HEAD AND NECK

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, {PARKINSON DISEASE 8}, WOLFRAM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, CEROID LIPOFUSCINOSIS NEURONAL 6, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DYSTONIA-11, MYOCLONIC, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, PERIODONTITIS 1, JUVENILE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ?REYNOLDS SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, NEUROFIBROMATOSIS, FAMILIAL SPINAL, HAIM-MUNK SYNDROME, MACULAR DYSTROPHY, RETINAL, 2, INSOMNIA, FATAL FAMILIAL, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MEND SYNDROME, OCCIPITAL HORN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ICHTHYOSIS, X-LINKED, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, BLEEDING DISORDER, PLATELET-TYPE, 15, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 36, ANGELMAN SYNDROME, ?CATARACT 41, SPEECH-LANGUAGE DISORDER-1, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, LYSYL HYDROXYLASE 3 DEFICIENCY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, KAHRIZI SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, RETINITIS PIGMENTOSA 59, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, BRACHYDACTYLY, TYPE E2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, WIEDEMANN-STEINER SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUENKE SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, RETINITIS PIGMENTOSA 20, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, AICARDI-GOUTIERES SYNDROME 6, GLAUCOMA 1A, PRIMARY OPEN ANGLE, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, PSEUDOHYPOPARATHYROIDISM IA, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, OSTEOGENESIS IMPERFECTA, TYPE VIII, MYOPATHY, DISTAL, TATEYAMA TYPE, MENKES DISEASE, CRANIOSYNOSTOSIS, TYPE 2, DEAFNESS, X-LINKED 5, HAY-WELLS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, DEAFNESS, AUTOSOMAL RECESSIVE 29, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, WHITE-SUTTON SYNDROME, NETHERTON SYNDROME, BRACHYOLMIA TYPE 3, {OROFACIAL CLEFT 6}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, FANCONI ANEMIA, COMPLEMENTATION GROUP C, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ?LICHTENSTEIN-KNORR SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 9, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, GLUTAMINE DEFICIENCY, CONGENITAL, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ADULT SYNDROME, BONE MARROW FAILURE SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, CORNEAL DYSTROPHY, CONGENITAL STROMAL, PSEUDOHYPOPARATHYROIDISM IC, NEUROFIBROMATOSIS, TYPE 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, OSTEOGENESIS IMPERFECTA, TYPE IV, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, PERIODIC FEVER, FAMILIAL, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, IMMUNODEFICIENCY 19, TOOTH AGENESIS, SELECTIVE, 7, COFFIN-SIRIS SYNDROME 3, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), TARSAL-CARPAL COALITION SYNDROME, FRAXE, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SEGAWA SYNDROME, RECESSIVE, SYMPHALANGISM, PROXIMAL, 1A, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 30/47, EVEN-PLUS SYNDROME, KNOBLOCH SYNDROME 1, ARTHROGRYPOSIS, DISTAL, TYPE 8, DEAFNESS, AUTOSOMAL DOMINANT 6/14/38, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, NOONAN SYNDROME 10, ALAGILLE SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, ANDERSEN SYNDROME, STARGARDT DISEASE 3, OSTEOGENESIS IMPERFECTA, TYPE VII, TRABOULSI SYNDROME, HYPOCHONDROPLASIA, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, DEAFNESS, AUTOSOMAL DOMINANT 20/26, VON WILLEBRAND DISEASE, TYPE 1, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, SPINOCEREBELLAR ATAXIA 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CEROID LIPOFUSCINOSIS, NEURONAL, 3, LEUKODYSTROPHY, HYPOMYELINATING, 9, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ?SPINOCEREBELLAR ATAXIA 34, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DYSTONIA-1, TORSION, ACHROMATOPSIA 7, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PARIETAL FORAMINA 1, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, IMMUNODEFICIENCY 10, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, POPLITEAL PTERYGIUM SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, DEJERINE-SOTTAS DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 74, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, GREENBERG SKELETAL DYSPLASIA, CAPOS SYNDROME, VAN DER WOUDE SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, CEROID LIPOFUSCINOSIS, NEURONAL, 5, YUNIS-VARON SYNDROME, SHORT SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AURICULOCONDYLAR SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, LIMB-MAMMARY SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, COLE-CARPENTER SYNDROME 1, WOLFRAM SYNDROME 2, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, PAPILLON-LEFEVRE SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, TREACHER COLLINS SYNDROME 2, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, LOEYS-DIETZ SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, FACTOR VII DEFICIENCY, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, MICROPHTHALMIA, ISOLATED 6, RENAL ADYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 37, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CUTIS LAXA, AD, CONGENITAL DISORDER OF DEGLYCOSYLATION, MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, LADD SYNDROME, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, RETINITIS PIGMENTOSA 41, MASA SYNDROME, CRASH SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 3, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, BARDET-BIEDL SYNDROME 3, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, ?RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES, MICROPHTHALMIA WITH COLOBOMA 5, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MYOPATHY, TUBULAR AGGREGATE, 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LYMPHEDEMA, HEREDITARY, III, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CEROID LIPOFUSCINOSIS, NEURONAL, 8, SMITH-LEMLI-OPITZ SYNDROME, CORNEAL OPACIFICATION AND OTHER OCULAR ANOMALIES, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, HYPERFERRITINEMIA-CATARACT SYNDROME, JOUBERT SYNDROME 4, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPINOCEREBELLAR ATAXIA 36, CATSHL SYNDROME, URBACH-WIETHE DISEASE, COWCHOCK SYNDROME, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, DYSTONIA-12, ARTHROGRYPOSIS, DISTAL, TYPE 2A, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NANOPHTHALMOS 4, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, NIEMANN-PICK DISEASE, TYPE A, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 4, SENIOR-LOKEN SYNDROME-1, NIEMANN-PICK DISEASE, TYPE C2, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, MACROCEPHALY/AUTISM SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, THYROID DYSHORMONOGENESIS 3, LATHOSTEROLOSIS, CHILD SYNDROME, EXUDATIVE VITREORETINOPATHY 4, DARIER DISEASE, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, WAGNER SYNDROME 1, ABETALIPOPROTEINEMIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, RITSCHER-SCHINZEL SYNDROME 1, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, VON WILLIBRAND DISEASE, TYPE 3, WOLCOTT-RALLISON SYNDROME, ALEXANDER DISEASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, TREACHER COLLINS SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 1, PAGET DISEASE OF BONE 3, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, FAILURE OF TOOTH ERUPTION, PRIMARY, TIETZ ALBINISM-DEAFNESS SYNDROME, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CODAS SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, APOE, LRPAP1, CLN3, TSC2, NGLY1, LBR, GNAS, TBXA2R, RPL5, FTL, PHEX, ADAMTS18, LRRK2, ALG3, NSDHL, NOG, DST, IL1B, TRIM32, MLC1, POMGNT1, ARSE, GFI1B, CYB5R3, CREBBP, P3H1, MSX2, MAFB, VLDLR, TRPV4, KL, APOA1, MEGF10, P4HB, DAG1, SKIV2L, LEP, IFNG, AIFM1, DSP, NR1I3, NR2F1, TECR, ITPR1, HSPD1, TRAPPC9, SMC3, MAN1B1, AGL, CTNNB1, SMAD4, CD40LG, CRTAP, CTSD, PPP2R1A, AKT1, TAPBP, PPIB, UBE3A, LIPE, HGF, LRAT, HSPA9, EFNB1, PEX5, SPINK5, TTC19, SERAC1, LRP5, IRF8, SLC9A1, HNRNPK, PIGA, NPHP1, PTPN11, GATA4, SPG7, RARS, NHLRC1, HLA-B, TMEM98, EGR2, FKTN, CIDEC, FKRP, PAK3, BDNF, ATF6, EPS8, ATXN3, AP3B1, DHCR24, POLR3B, ATP2A2, EPM2A, DMPK, B3GALNT2, PEX14, SEC23A, APOB, TH, MT-CO2, ACTB, KIF1C, PGK1, COL1A2, GBA2, SNX10, GFAP, COX6A1, ITGA8, G6PC3, LRBA, ASPM, PRSS56, SPTAN1, PGAP1, DES, CDT1, TGFBI, POR, ARHGDIA, MITF, IGF1, CAPN3, POMGNT2, PXDN, KIF1A, TGFBR2, FIG4, TGFB2, HOXB1, MAP2K2, SERPINA1, NOTCH1, CTSC, CBS, PLOD3, CD3E, VCAN, GTPBP3, WWOX, PTH1R, PIKFYVE, STS, FGF23, STAT3, BRAF, SNAP25, DMD, STIM1, ALPL, MYOC, ADAR, ALG1, SRP72, SC5D, ELOVL5, ALDH3A2, HRAS, PLEC, VDR, ASCL1, NAGLU, ATXN1, TP53, LRP2, IKBKB, SNCA, ATP2B2, TMEM43, PRKCG, NF1, QDPR, ITGA6, DLG3, AIMP1, PTS, ACTG1, ALB, KCNJ10, TGFB1, DARS, EIF2AK3, SPTLC1, CACNA1C, PARK2, PLG, PEX3, NDUFB9, IL6, ITM2B, DCN, PCSK9, PCNA, ATP1A3, POLR1C, AGA, VPS35, PEX16, MSRB3, PROM1, SMAD3, HSPG2, EXT2, MTOR, PLCB4, MPDZ, F2, CD3D, RAD21, F7, SQSTM1, IKBKG, CTSA, MAG, AGT, CDK5, TRAPPC2, ESPN, EDNRB, CDH1, KMT2A, NEB, FMR1, ARSB, PNPLA2, CLDN14, NOP56, CACNA1B, NPC1, JAG1, ECM1, PRKACG, RBPJ, NUBPL, GRIP1, ACVR1, DRD2, CBL, ELN, EGFR, LZTR1, PGM1, SEMA3E, NOTCH2, CCND1, MAPT, NPC2, MOGS, ACTN1, MSMO1, ABCA1, MET, POGZ, EBP, POLR1D, EEF1A2, DSE, SNAP29, TNFRSF1A, TMEM173, TSHR, RBP4, MPC1, WAS, INS, ABCC8, ITGB3, SMPD1, HSD17B10, FOXP2, PITX3, STAT1, YAP1, SYN1, VHL, COL4A1, KIF1B, PTHLH, TUBB3, BIN1, RUNX2, ATP5A1, DPM2, RPS19, PTEN, FGFR3, MTTP, SSR4, SMARCB1, STUB1, DPM1, CENPE, TBP, ATP7A, ABCB6, TP63, POMT1, SOS1, CYP1B1, CACNA1S, MFAP5, CISD2, AGPAT2, IRF6, TUFM, PDGFB, CAV1, PRPF8, CAV3, COL1A1, CNBP, SRD5A3, BCAP31, TAP1, DDX3X, MYO5A, PPARG, AGTR1, PRKAR1A, EDN1, SGCE, BTK, CDKN2A, BMP4, BLOC1S6, PDGFRB, P3H2, EMD, CLN8, SMARCA2, APOA2, KRAS, WFS1, GLUL, LMNB1, LRP1, RYR1, DHDDS, LONP1, CNTNAP1, HS6ST1, AGRN, PRX, HLA-DRB1, ELOVL4, HTT, TGFBR1, EP300, NDUFA2, MYO6, ARL6, CLN5, PTPRC, LRP6, PLIN1, QARS, TTR, KCNJ11, CACNA1G, GJA1, MYH3, SNRPB, INF2, VWF, CLN6, TG, CCND2, HADHB, WNT5A, VCP, COL4A3, LDLR, PIEZO1, TOR1A, ASPH, SLC37A4, DNAJC3, SIL1, RPE65, CHRM3, DDOST, ERLIN2, GJB1, SUMF1, FLNA, DNAJC13, NGF, ATXN2, DHCR7, PRNP, ATM, IER3IP1, C19orf12, INSR, KIAA0196, SERPINH1, FANCC, L1CAM, RET, PEX19, KCNJ2, HACE1, MPDU1, COL4A3BP, SHH, MTRR, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LOEYS-DIETZ SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), OPTIC ATROPHY PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OCULOECTODERMAL SYNDROME, SULFITE OXIDASE DEFICIENCY, OPTIC ATROPHY 1, SENIOR-LOKEN SYNDROME-1, DEAFNESS, X-LINKED 5, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPERFERRITINEMIA-CATARACT SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYOPIA 23, AUTOSOMAL RECESSIVE, DEAFNESS, AUTOSOMAL RECESSIVE 70, COWCHOCK SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HYPOBETALIPOPROTEINEMIA, MEIER-GORLIN SYNDROME 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, DEAFNESS, AUTOSOMAL DOMINANT 64, MOHR-TRANEBJAERG SYNDROME, JOUBERT SYNDROME 4, BEHR SYNDROME, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, HARP SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, GLAUCOMA 1A, PRIMARY OPEN ANGLE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

APOB, TGFBR1, SUOX, UQCC2, MYOC, TP53, PINK1, DIABLO, CDK5, NPHP1, KRAS, ARL2BP, FTL, LEP, SCO1, MT-CO2, TUBB, MSMO1, LIPE, AIFM1, NDUFS1, CDKN2A, COX6B1, OPA1, LRPAP1, AKT1, VPS35, EGFR, ACTA2, ORC1, TIMM8A, FBXL4, IGF1, PANK2, STAT3, PNPT1, INS, MICU1, PEX5

BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, USHER SYNDROME, TYPE 1B, DEAFNESS, AUTOSOMAL DOMINANT 4A, OTOPALATODIGITAL SYNDROME, TYPE II, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DEAFNESS, AUTOSOMAL DOMINANT 11, BARAITSER-WINTER SYNDROME 2, HOLOPROSENCEPHALY-7, GLANZMANN THROMBASTHENIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, GILLESPIE SYNDROME, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, HUTCHINSON-GILFORD PROGERIA, MYOPATHY, TUBULAR AGGREGATE, 1, PARIETAL FORAMINA 2, HERMANSKY-PUDLAK SYNDROME 1, FRASER SYNDROME, STORMORKEN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, MENTAL RETARDATION, X-LINKED 99, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HARTSFIELD SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, TUBEROUS SCLEROSIS-1, FOVEAL HYPOPLASIA 1, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, FRONTOMETAPHYSEAL DYSPLASIA, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, ENCEPHALOPATHY, NEONATAL SEVERE, ANGELMAN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, NYSTAGMUS 1, CONGENITAL, X-LINKED, NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, JACKSON-WEISS SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1B, AUTOSOMAL RECESSIVE, PITT-HOPKINS-LIKE SYNDROME 2, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, NEUROFIBROMATOSIS, TYPE 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, LISSENCEPHALY 6, WITH MICROCEPHALY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, RETINITIS PIGMENTOSA 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, OTOPALATODIGITAL SYNDROME, TYPE I, SPINOCEREBELLAR ATAXIA 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, PRIMARY LATERAL SCLEROSIS, JUVENILE, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRAGILE X TREMOR/ATAXIA SYNDROME, MELNICK-NEEDLES SYNDROME, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, WISKOTT-ALDRICH SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, IMMUNODEFICIENCY 10, WAARDENBURG SYNDROME, TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, FRONTONASAL DYSPLASIA 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, WAARDENBURG SYNDROME, TYPE 3, FRAGILE X SYNDROME, LOEYS-DIETZ SYNDROME 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HOLOPROSENCEPHALY 11, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 37, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, HERMANSKY-PUDLAK SYNDROME 9, MENTAL RETARDATION, X-LINKED 90, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DEAFNESS, AUTOSOMAL RECESSIVE 2, HERMANSKY-PUDLAK SYNDROME 7, BRACHYOLMIA TYPE 3, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

NF1, PTCH1, TSC2, STIM1, TGFBR1, DLG3, FGFR1, ITGA8, FRMD7, IGHMBP2, PAX6, EGFR, PAX3, ACTG1, ADCY6, ALS2, FLNA, MECP2, KPTN, NRXN1, HDAC6, DVL1, LRP1, PCNA, AGT, KIF11, CORO1A, SNCA, DOCK7, TSC1, USP9X, CASK, GRIP1, DTNBP1, OTX2, LMNA, IGF1R, ACTN1, AKT2, ITGB3, AKT1, MYH14, MYO5A, CCND1, GJA1, PAFAH1B1, SMARCE1, KATNB1, SNCAIP, ATXN1, WAS, FMR1, ITGA3, EPS8, NEFL, EXOC8, SPTAN1, DCTN1, TOR1A, GRM1, APC, PAM16, HRAS, MYO6, BLOC1S6, MAPT, CDK5, EMD, SNAP25, STXBP1, TRPV4, CDKL5, NGF, ARHGDIA, NEB, CDH1, NR2E3, ALX4, MYO7A, CDON, CTNNB1, RYR1, PIK3R1, GRM6

BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, USHER SYNDROME, TYPE 1B, DEAFNESS, AUTOSOMAL DOMINANT 4A, OTOPALATODIGITAL SYNDROME, TYPE II, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DEAFNESS, AUTOSOMAL DOMINANT 11, BARAITSER-WINTER SYNDROME 2, HOLOPROSENCEPHALY-7, GLANZMANN THROMBASTHENIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, GILLESPIE SYNDROME, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, HUTCHINSON-GILFORD PROGERIA, MYOPATHY, TUBULAR AGGREGATE, 1, PARIETAL FORAMINA 2, HERMANSKY-PUDLAK SYNDROME 1, FRASER SYNDROME, STORMORKEN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, MENTAL RETARDATION, X-LINKED 99, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HARTSFIELD SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, TUBEROUS SCLEROSIS-1, FOVEAL HYPOPLASIA 1, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, FRONTOMETAPHYSEAL DYSPLASIA, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, ENCEPHALOPATHY, NEONATAL SEVERE, ANGELMAN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, JACKSON-WEISS SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, NYSTAGMUS 1, CONGENITAL, X-LINKED, NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, NEUROFIBROMATOSIS, TYPE 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, LISSENCEPHALY 6, WITH MICROCEPHALY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, RETINITIS PIGMENTOSA 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, OTOPALATODIGITAL SYNDROME, TYPE I, SPINOCEREBELLAR ATAXIA 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, PRIMARY LATERAL SCLEROSIS, JUVENILE, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MELNICK-NEEDLES SYNDROME, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, IMMUNODEFICIENCY 10, WAARDENBURG SYNDROME, TYPE 1, FRONTONASAL DYSPLASIA 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, WAARDENBURG SYNDROME, TYPE 3, LOEYS-DIETZ SYNDROME 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HOLOPROSENCEPHALY 11, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 37, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MENTAL RETARDATION, X-LINKED 90, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DEAFNESS, AUTOSOMAL RECESSIVE 2, HERMANSKY-PUDLAK SYNDROME 7, BRACHYOLMIA TYPE 3, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

NF1, PTCH1, TSC2, STIM1, TOR1A, FLNA, DVL1, ITGA8, FRMD7, IGHMBP2, PAX6, ATXN1, PAX3, OTX2, ACTG1, ADCY6, ALS2, MECP2, KPTN, NRXN1, HDAC6, DLG3, LRP1, AGT, KIF11, CORO1A, SNCA, DOCK7, NEB, USP9X, CASK, GRIP1, DTNBP1, MYO5A, LMNA, ACTN1, KATNB1, NR2E3, AKT1, MYH14, CCND1, GJA1, FGFR1, SMARCE1, AKT2, SNCAIP, PAFAH1B1, WAS, ITGA3, EGFR, NEFL, EXOC8, EPS8, SPTAN1, DCTN1, TGFBR1, APC, PAM16, HRAS, CDKL5, MYO6, BLOC1S6, MAPT, CDK5, EMD, SNAP25, STXBP1, TRPV4, PCNA, NGF, ARHGDIA, TSC1, CDH1, ITGB3, ALX4, MYO7A, CDON, CTNNB1, RYR1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, CORNEAL DYSTROPHY, LATTICE TYPE I, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, PSEUDOACHONDROPLASIA, MULTIPLE SULFATASE DEFICIENCY, SMED STRUDWICK TYPE, ?STICKLER SYNDROME, TYPE V, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, BRUCK SYNDROME 1, MICROPHTHALMIA WITH COLOBOMA 5, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CORNEAL DYSTROPHY, AVELLINO TYPE, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, POPLITEAL PTERYGIUM SYNDROME 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, AXENFELD-RIEGER SYNDROME, TYPE 1, COENZYME Q10 DEFICIENCY, PRIMARY, 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, MYOPIA 23, AUTOSOMAL RECESSIVE, ?OSTEOGENESIS IMPERFECTA, TYPE X, ?RETINAL ARTERIES, TORTUOSITY OF, CEROID LIPOFUSCINOSIS NEURONAL 6, SPINOCEREBELLAR ATAXIA 14, MYOTUBULAR MYOPATHY, X-LINKED, CARASIL SYNDROME, FECHTNER SYNDROME, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DEJERINE-SOTTAS DISEASE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, EPSTEIN SYNDROME, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), OSTEOGENESIS IMPERFECTA, TYPE VIII, CORNEAL DYSTROPHY, CONGENITAL STROMAL, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TOOTH AGENESIS, SELECTIVE, 7, ?STEEL SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, CLEFT PALATE, ISOLATED, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, ADAMS-OLIVER SYNDROME 5, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, EPITHELIAL RECURRENT EROSION DYSTROPHY, OSTEOGENESIS IMPERFECTA, TYPE IV, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ICHTHYOSIS, X-LINKED, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, VAN DER WOUDE SYNDROME, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PARKINSON DISEASE 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, MULTIPLE SYNOSTOSES SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, EHLERS-DANLOS SYNDROME, TYPE IV, MICROPHTHALMIA, SYNDROMIC 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, SEBASTIAN SYNDROME, PRADER-WILLI SYNDROME, FRAXE, ?TETRA-AMELIA SYNDROME, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XI, STICKLER SYNDROME, TYPE II, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ALPORT SYNDROME, SEGAWA SYNDROME, RECESSIVE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, SERKAL SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, MULLERIAN APLASIA AND HYPERANDROGENISM, CULLER-JONES SYNDROME, COLE-CARPENTER SYNDROME 1, ?DEAFNESS, X-LINKED 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, KNOBLOCH SYNDROME 1, HOLOPROSENCEPHALY-9, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, RENAL TUBULAR DYSGENESIS, MYASTHENIC SYNDROME, CONGENITAL, 5, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 53, CAMURATI-ENGELMANN DISEASE, MARINESCO-SJOGREN SYNDROME, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, THYROID DYSHORMONOGENESIS 3, OSTEOGENESIS IMPERFECTA, TYPE VII, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 17, DARIER DISEASE, METACHROMATIC LEUKODYSTROPHY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, TRABOULSI SYNDROME, BETHLEM MYOPATHY 1, EXUDATIVE VITREORETINOPATHY 1, SPINOCEREBELLAR ATAXIA 17, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RABSON-MENDENHALL SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ABETALIPOPROTEINEMIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, VON WILLEBRAND DISEASE, TYPE 1, FIBROCHONDROGENESIS 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, KOSAKI OVERGROWTH SYNDROME, FACTOR VII DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ADAMS-OLIVER SYNDROME 4, CRANIOSYNOSTOSIS, TYPE 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XVII, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF DEGLYCOSYLATION, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, DYSTONIA-1, TORSION, STICKLER SYNDROME, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, DEAFNESS, AUTOSOMAL DOMINANT 13, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, PARIETAL FORAMINA 1, {OROFACIAL CLEFT 6}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, MARSHALL SYNDROME, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

RDH5, LRPAP1, CAV1, APOB, APOE, NGLY1, GP1BA, FKBP10, COL3A1, F2, MAG, AGT, COL11A2, PPARG, COL5A1, COLQ, CDH1, WNT5A, SOX10, GLI2, ARSE, EGR2, EOGT, COL4A5, WNT4, DNM2, TGFBI, BMP4, WNT1, PRKCG, COL13A1, PDGFRB, IGF1, P3H2, P3H1, COL2A1, LDLR, MUSK, WNT7A, F7, APOA2, RUNX1, CBL, SERPINA1, COL8A2, COL6A2, P4HB, CD79A, NOTCH1, IL6, LRP1, COL6A1, MTOR, PLOD3, EDA, LEP, COL9A2, FZD4, MSX2, PROC, CCND1, COMP, COL4A6, SPARC, TGFBR1, CRTAP, FKBP14, ARSB, STS, GP9, STAT3, DDR2, INS, LRP6, PITX2, COL7A1, CAV3, ALDOA, GJA1, SOX9, SUFU, HSD17B10, COL4A1, VWF, PAX2, COL17A1, CD40LG, GMPPB, CLN6, VHL, COL4A4, TG, GDF5, ROR2, NDN, AKT1, CCND2, PPIB, NAGLU, APOA1, TP53, ITGB2, COL27A1, ASPH, SNCA, IL1B, SIL1, PTEN, MTTP, TH, ITGA6, COL6A3, NR2F1, SUMF1, SSR4, MYH11, NGF, COL25A1, IRF6, WNT3, TXN2, TGFB1, PTPN11, COL1A1, GATA4, TBP, MYH9, COL11A1, INSR, COL5A2, PLG, SERPINH1, RNASET2, DNMT1, COL4A3, DCN, GATA6, PDGFRA, BDNF, TOR1A, COL18A1, F10, COL1A2, COQ6, EIF2AK3, DNAJC3, HTRA1, ATP2A2, HSPG2, PDGFB, ARSA, SHH

ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 9, AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), WOLFRAM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, DEAFNESS, AUTOSOMAL DOMINANT 11, CEROID LIPOFUSCINOSIS NEURONAL 6, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, COLE-CARPENTER SYNDROME 2, DYSTONIA-11, MYOCLONIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, BOUCHER-NEUHAUSER SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ?REYNOLDS SYNDROME, MANDIBULOACRAL DYSPLASIA, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, RENAL TUBULAR DYSGENESIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, ADAMS-OLIVER SYNDROME 5, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MEND SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, JOUBERT SYNDROME 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, PEUTZ-JEGHERS SYNDROME, CK SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 36, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ?CATARACT 41, PRADER-WILLI SYNDROME, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1B, AUTOSOMAL RECESSIVE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, LYSYL HYDROXYLASE 3 DEFICIENCY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, KAHRIZI SYNDROME, PELGER-HUET ANOMALY, RETINITIS PIGMENTOSA 59, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, BRACHYDACTYLY, TYPE E2, GLYCOGEN STORAGE DISEASE IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?WEBB-DATTANI SYNDROME, WARBURG MICRO SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, FOCAL FACIAL DERMAL DYSPLASIA 4, ?N-ACETYLASPARTATE DEFICIENCY, HEMOCHROMATOSIS, TYPE 4, AGAMMAGLOBULINEMIA 1, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, COWDEN SYNDROME 7, MENTAL RETARDATION, X-LINKED 63, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, DESBUQUOIS DYSPLASIA 1, MYOPATHY, DISTAL, TATEYAMA TYPE, DEAFNESS, X-LINKED 5, MUSCULAR DYSTROPHY, RIGID SPINE, 1, HAY-WELLS SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, EHLERS-DANLOS SYNDROME, TYPE VI, DEAFNESS, AUTOSOMAL RECESSIVE 39, THYROID DYSHORMONOGENESIS 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 30/47, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, {OROFACIAL CLEFT 6}, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ?LICHTENSTEIN-KNORR SYNDROME, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, BONE MARROW FAILURE SYNDROME 1, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ?PERIVENTRICULAR NODULAR HETEROTOPIA 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA 14, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, STORMORKEN SYNDROME, CORNEAL DYSTROPHY, CONGENITAL STROMAL, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PERIODIC FEVER, FAMILIAL, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, STRIATONIGRAL DEGENERATION, INFANTILE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, CHIME SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, CYSTINOSIS, OCULAR NONNEPHROPATHIC, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, WHITE-SUTTON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), COACH SYNDROME, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, DEAFNESS, AUTOSOMAL DOMINANT 6/14/38, ?OSTEOGENESIS IMPERFECTA, TYPE XII, SPINOCEREBELLAR ATAXIA 1, NOONAN SYNDROME 10, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, PEROXISOME BIOGENESIS DISORDER 8B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, MECKEL SYNDROME 3, ALAZAMI SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, DESBUQUOIS DYSPLASIA 2, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, MASA SYNDROME, CRASH SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, TRABOULSI SYNDROME, FRAGILE X TREMOR/ATAXIA SYNDROME, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ICHTHYOSIS, X-LINKED, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SPINOCEREBELLAR ATAXIA 38, HYALINE FIBROMATOSIS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, GNATHODIAPHYSEAL DYSPLASIA, 3MC SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, NEPHRONOPHTHISIS 11, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, SENIOR-LOKEN SYNDROME 9, TUMOR PREDISPOSITION SYNDROME, RETINITIS PIGMENTOSA 1, USHER SYNDROME, TYPE 1B, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, DIAMOND-BLACKFAN ANEMIA 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, REVESZ SYNDROME, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, PCWH SYNDROME, MACULAR DYSTROPHY, PATTERNED, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, BRUCK SYNDROME 1, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), POPLITEAL PTERYGIUM SYNDROME 1, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, COENZYME Q10 DEFICIENCY, PRIMARY, 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, DEJERINE-SOTTAS DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, LOEYS-DIETZ SYNDROME 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, LEPRECHAUNISM, GREENBERG SKELETAL DYSPLASIA, VAN DER WOUDE SYNDROME, ?THROMBOXANE SYNTHASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 6, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LIMB-MAMMARY SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1F, AUTOSOMAL RECESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CATARACT 44, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, COLE-CARPENTER SYNDROME 1, WOLFRAM SYNDROME 2, CORNELIA DE LANGE SYNDROME 3, ?IMMUNODEFICIENCY 37, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, ?LAURENCE-MOON SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, MYOPIA 23, AUTOSOMAL RECESSIVE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, ALAGILLE SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, TYLOSIS WITH ESOPHAGEAL CANCER, LOEYS-DIETZ SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLOPROSENCEPHALY 11, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, USHER SYNDROME, TYPE 1C, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MYHRE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, RENAL ADYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 37, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ACHROMATOPSIA 7, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HUTCHINSON-GILFORD PROGERIA, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, LYMPHEDEMA, HEREDITARY, III, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, PETERS-PLUS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 8, SMITH-LEMLI-OPITZ SYNDROME, ADULT SYNDROME, HUNTINGTON DISEASE, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, JOUBERT SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XI, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, WEAVER SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, CORNELIA DE LANGE SYNDROME 4, SENIOR-LOKEN SYNDROME-1, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MACROCEPHALY/AUTISM SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 10, LATHOSTEROLOSIS, CHILD SYNDROME, DARIER DISEASE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, WAGNER SYNDROME 1, VON WILLIBRAND DISEASE, TYPE 3, WOLCOTT-RALLISON SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, SCHNECKENBECKEN DYSPLASIA, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DEAFNESS, AUTOSOMAL RECESSIVE 2, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

LSS, DRD2, APOE, RPL5, SEC23A, CAV1, GJB1, TREX1, UPK3A, POLR1A, CTNNB1, CAV3, PLOD1, CDK5, NOP56, PIGW, RAD21, POMT1, FKBP10, STAT1, LBR, PGK1, SC5D, IKBKG, ALG2, CTSA, ITGB3, DHDDS, TAP1, DPM1, PARK7, B3GLCT, INS, AGT, TP63, ARSB, EIF4A3, PPARG, MOGS, PTDSS1, AGL, OCA2, PTHLH, ESPN, ALB, CDH1, BTK, APOB, G6PC3, LRPAP1, GALE, STK11, ERMARD, CDKN2A, NPHP1, ALG1, HGF, SMAD4, ASPM, TGFBR1, EPS8, PNPLA2, CDC6, PGAP1, DES, G6PC, MSMO1, PIGL, NOTCH3, ACSL4, RPS19, POR, COQ6, ARHGDIA, CYB5R3, ANKLE2, USH1C, IGF1, WFS1, CYP26C1, SLC37A4, CLN8, ARSE, MYO6, CLP1, CTSD, LRIT3, PTEN, CYP2R1, DNMT1, NECAP1, PEX16, ACTB, PPP2R5D, STT3A, PIGO, KRAS, GJA1, ERBB3, CBL, FOXL2, RDH11, EGFR, QDPR, CYP7B1, AR, DPAGT1, P4HB, AGTR1, PIGT, NOTCH1, CYP1B1, AGPAT2, VMA21, LMNB1, NR1I3, LRP1, CBS, RYR1, PLOD3, RB1, EDA, RPS10, LEP, LMNA, ALG11, BCAP31, HNRNPK, BAP1, VCAN, ANTXR2, CANT1, AIFM1, MEGF10, POMGNT2, CCND1, UCHL1, PROS1, IFNG, HLA-DRB1, HTT, RELN, FMR1, ZMPSTE24, TECR, ITPR1, TGFB1, F2, RBPJ, FKBP14, TMEM173, PIGY, NAT8L, POMT2, SYN1, ACTA2, STS, SUMF1, ALG6, HOXA2, HCFC1, TNFRSF1A, TBC1D20, WAS, NUP62, VCP, ARNT2, JAGN1, SLC35A3, MPDU1, SNAP25, EZH2, PGAP2, TXN2, ALPL, PIGA, MAN1B1, STIM1, GRIN2B, ALDOA, CACNA1G, DVL1, TRAF3IP1, ETFA, LRAT, TBXAS1, DOLK, XYLT2, NSDHL, SPAST, SLC9A6, DVL3, POGZ, VWF, TMCO1, SRP72, ATF6, LYST, KLC2, FA2H, CNTN1, PNPLA6, CLN6, POMK, ALG3, BCS1L, PPP2R1A, ALDH3A2, SPTAN1, F10, MYO7A, MTOR, NDN, PRKAR1A, AKT1, TUBB3, SLC9A1, ITPR2, VDR, C19orf12, TSC2, PCYT1A, IGF1R, ATXN1, TINF2, TP53, CYP4V2, UBE3A, TMEM67, PIEZO1, LRP2, NOTCH2, LARP7, RHBDF2, IHH, ABCD4, ASPH, EDN1, RHO, CTNS, IL1B, TSHR, PIGN, SEC24D, LZTR1, SPINK5, OTOF, SNAP29, DDOST, SOX10, ERLIN2, SKIV2L, RUNX2, PDE4D, SRD5A3, COL4A3BP, USH2A, SSR4, NME1, FLNA, SLC40A1, TAPBP, NGF, MASP1, STUB1, SEPN1, ACTG1, IRF6, EIF2B1, DHCR7, SMC3, HPCA, XYLT1, ANO5, PTPN11, GATA4, TBP, DTNBP1, EIF2AK3, BCL10, SPTLC1, STXBP1, SPRY4, STAT3, MT-CO2, IER3IP1, CACNA1C, INSR, EBP, HLA-B, DHCR24, PLG, GRM6, CTNNA1, DST, RP1, SLC33A1, SEC23B, IL6, PIK3R1, PAK3, RPL11, MFSD2A, DCN, RDH5, L1CAM, ACD, PCNA, GBA2, PRKCG, ATP5A1, DUOXA2, RET, PEX19, ACTN1, IGHM, CDON, HRAS, PIGV, CISD2, DNAJC3, POLR3B, SMAD3, DPM2, ATP2A2, CFL2, HSPG2, EXT2, SLC35D1, SHH, TAP2, ELOVL5, DCTN1, TUFM, ALG13, DMPK, ATIC

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, OSTEOGENESIS IMPERFECTA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, JERVELL AND LANGE-NIELSEN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 48, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CENANI-LENZ SYNDACTYLY SYNDROME, SPINOCEREBELLAR ATAXIA 5, OSTEOGENESIS IMPERFECTA, TYPE IV, ?MYASTHENIC SYNDROME, CONGENITAL, 17, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, SEBASTIAN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 10, DUCHENNE MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPINOCEREBELLAR ATAXIA 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, CARNEY COMPLEX, TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MELNICK-NEEDLES SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ADAMS-OLIVER SYNDROME 3, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAMURATI-ENGELMANN DISEASE, LISSENCEPHALY 5, SCLEROSTEOSIS 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, USHER SYNDROME, TYPE IJ, OTOPALATODIGITAL SYNDROME, TYPE I, FECHTNER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 17, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, EPSTEIN SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, RENAL TUBULAR DYSGENESIS, SPINOCEREBELLAR ATAXIA 13, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LONG QT SYNDROME 1, {BLEPHAROSPASM, PRIMARY BENIGN}, ALPORT SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PROTEUS SYNDROME, SOMATIC

CAV3, LAMB1, KCNQ1, CIB2, ERBB3, COL25A1, CDK5, TGFB1, DOK7, MYH9, AGT, DMD, PRKACA, RAPSN, CHRNE, CHRNA1, PRKAR1A, FLNA, AKT1, CTNNB1, GJA1, F2, DRD5, ATXN1, COL4A5, BDNF, COL1A1, GRIN2B, DES, SPTBN2, EGFR, DAG1, KCNC3, MUSK, SPTAN1, RBPJ, LRP4

CORNEAL DYSTROPHY, LATTICE TYPE I, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 9, AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, ACHONDROPLASIA, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DEAFNESS, AUTOSOMAL DOMINANT 11, KERATOSIS PALMOPLANTARIS STRIATA I, AD, JOUBERT SYNDROME 4, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DYSTONIA-11, MYOCLONIC, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, CAMURATI-ENGELMANN DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, SALLA DISEASE, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RENAL TUBULAR DYSGENESIS, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MACULAR DYSTROPHY, RETINAL, 2, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SENIOR-LOKEN SYNDROME 4, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, DIAMOND-BLACKFAN ANEMIA 4, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, ALTERNATING HEMIPLEGIA OF CHILDHOOD, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HAY-WELLS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?RETINAL DYSTROPHY AND OBESITY, DEAFNESS, AUTOSOMAL DOMINANT 2B, TIMOTHY SYNDROME, EPISODIC KINESIGENIC DYSKINESIA 1, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NOONAN SYNDROME 4, ?JOUBERT SYNDROME 22, DYSTONIA-12, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NANCE-HORAN SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, ?MECKEL SYNDROME 12, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION, MUENKE SYNDROME, DYSTONIA 9, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, RETINITIS PIGMENTOSA 64, CONE-ROD DYSTROPHY 16, DEAFNESS, AUTOSOMAL DOMINANT 17, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ?SECKEL SYNDROME 4, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, VAN DEN ENDE-GUPTA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMAGE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CHERUBISM, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ?MICROHYDRANENCEPHALY, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 3, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, ECTOPIA LENTIS ET PUPILLAE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 29, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MENTAL RETARDATION, X-LINKED 30/47, {BLEPHAROSPASM, PRIMARY BENIGN}, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, XERODERMA PIGMENTOSUM, GROUP B, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, CATARACT 19, MULTIPLE TYPES, CHEDIAK-HIGASHI SYNDROME, BRACHYOLMIA TYPE 3, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?RETINITIS PIGMENTOSA 67, FANCONI ANEMIA, COMPLEMENTATION GROUP P, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ADULT SYNDROME, ATELOSTEOGENESIS, TYPE I, ?SECKEL SYNDROME 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, HOLOPROSENCEPHALY-7, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, CORNEAL DYSTROPHY, CONGENITAL STROMAL, MENTAL RETARDATION, X-LINKED 1, TOOTH AGENESIS, SELECTIVE, 7, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, SESAME SYNDROME, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, SHPRINTZEN-GOLDBERG SYNDROME, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, CENANI-LENZ SYNDACTYLY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 68, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKOENCEPHALOPATHY WITH ATAXIA, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 8, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, CINCA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, CHOANAL ATRESIA AND LYMPHEDEMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, JOUBERT SYNDROME 5, MARTSOLF SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, STRIATONIGRAL DEGENERATION, INFANTILE, ARTHROGRYPOSIS, DISTAL, TYPE 8, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, TARSAL-CARPAL COALITION SYNDROME, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A, OPSISMODYSPLASIA, MALOUF SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 28, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, COACH SYNDROME, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, PARKINSON DISEASE 20, EARLY-ONSET, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MUSCULAR DYSTROPHY, CONGENITAL, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, MYASTHENIC SYNDROME, CONGENITAL, 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, KINDLER SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, FRAGILE X TREMOR/ATAXIA SYNDROME, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ANDERSEN SYNDROME, EPSTEIN SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, RETINITIS PIGMENTOSA 41, HYPOCHONDROPLASIA, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, INCONTINENTIA PIGMENTI, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 1B, ESCOBAR SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, 3MC SYNDROME 1, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AICARDI-GOUTIERES SYNDROME 6, DYSTONIA-1, TORSION, NEPHRONOPHTHISIS 11, MECKEL SYNDROME 3, JOUBERT SYNDROME 6, SENIOR-LOKEN SYNDROME 9, MENTAL RETARDATION, X-LINKED 46, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, DEAFNESS, AUTOSOMAL DOMINANT 25, LEBER CONGENITAL AMAUROSIS 15, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, HERMANSKY-PUDLAK SYNDROME 7, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, USHER SYNDROME, TYPE 1B, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 10, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ?OSTEOGENESIS IMPERFECTA, TYPE X, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, FECHTNER SYNDROME, LIMB-MAMMARY SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, WARBURG MICRO SYNDROME 2, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, DEJERINE-SOTTAS DISEASE, MYOPATHY, DISTAL, TATEYAMA TYPE, LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, SADDAN, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GIANT AXONAL NEUROPATHY-1, USHER SYNDROME, TYPE 1G, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BENT BONE DYSPLASIA SYNDROME, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, RETINITIS PIGMENTOSA 38, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, CAPOS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, PARKINSONISM-DYSTONIA, INFANTILE, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, TEMPLE-BARAITSER SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, SCLEROSTEOSIS 2, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SENIOR-LOKEN SYNDROME 6, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHOROID PLEXUS PAPILLOMA, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, COLE-CARPENTER SYNDROME 1, CORNELIA DE LANGE SYNDROME 3, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MYASTHENIC SYNDROME, CONGENITAL, 19, OSTEOGENESIS IMPERFECTA, TYPE IX, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, TANGIER DISEASE, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, SPINOCEREBELLAR ATAXIA 14, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 3B, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), RENAL ADYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 37, CUTIS LAXA, AD, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 12, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LADD SYNDROME, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 17, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MASA SYNDROME, CRASH SYNDROME, EPISODIC ATAXIA, TYPE 6, ?FACIAL CLEFTING, OBLIQUE, 1, SECKEL SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, THANATOPHORIC DYSPLASIA, TYPE II, SPINOCEREBELLAR ATAXIA 5, FRASER SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, ALSTROM SYNDROME, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CULLER-JONES SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, BARAITSER-WINTER SYNDROME 2, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HERMANSKY-PUDLAK SYNDROME 1, USHER SYNDROME, TYPE IJ, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, DEAFNESS, X-LINKED 4, EPISODIC ATAXIA, TYPE 2, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, MENTAL RETARDATION, X-LINKED 99, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, APLASIA OF LACRIMAL AND SALIVARY GLANDS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, ?DEAFNESS, AUTOSOMAL DOMINANT 68, RUBINSTEIN-TAYBI SYNDROME, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, TRIGONOCEPHALY 1, BARDET-BIEDL SYNDROME 16, DEAFNESS, AUTOSOMAL RECESSIVE 23, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, BARDET-BIEDL SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, PERRY SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 49, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, SECKEL SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, CATSHL SYNDROME, URBACH-WIETHE DISEASE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, MUCKLE-WELLS SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, PROGRESSIVE MYOCLONUS EPILEPSY WITH ATAXIA, JACKSON-WEISS SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, TUBEROUS SCLEROSIS 2, SPINOCEREBELLAR ATAXIA 6, WAARDENBURG SYNDROME, TYPE 3, USHER SYNDROME, TYPE 1F, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORPUS CALLOSUM AGENESIS, OSTEOGENESIS IMPERFECTA, TYPE II, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, OSTEOGLOPHONIC DYSPLASIA, WIEACKER-WOLFF SYNDROME, ?BARDET-BIEDL SYNDROME 11, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, HOLOPROSENCEPHALY-9, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CORNELIA DE LANGE SYNDROME 4, SENIOR-LOKEN SYNDROME-1, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, QUESTION MARK EARS, ISOLATED, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CORPUS CALLOSUM, PARTIAL AGENESIS OF, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, JAWAD SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, MACROCEPHALY/AUTISM SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, NEUROFIBROMATOSIS, TYPE 2, GENITOPATELLAR SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, DEAFNESS, AUTOSOMAL RECESSIVE 24, JOUBERT SYNDROME 7, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, VOHWINKEL SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, BLEEDING DISORDER, PLATELET-TYPE, 17, LISSENCEPHALY 3, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, DEAFNESS, AUTOSOMAL RECESSIVE 48, SPONDYLOCOSTAL DYSOSTOSIS 5, PITYRIASIS RUBRA PILARIS, BLEEDING DISORDER, PLATELET-TYPE, 11, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, MECKEL SYNDROME 5, WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ALEXANDER DISEASE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, TREACHER COLLINS SYNDROME 3, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 84A, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DEAFNESS, AUTOSOMAL RECESSIVE 30, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, MYOTONIC DYSTROPHY 2, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ATAXIA-OCULOMOTOR APRAXIA 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DEAFNESS, AUTOSOMAL RECESSIVE 2, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME

CA2, APOE, LRPAP1, LAMB1, EDNRA, RASGRP2, PDE4D, TBXA2R, ATP6V1B1, KRIT1, RBBP8, DOCK7, COLQ, PCYT1A, TRIOBP, SLC17A5, PTPN14, NOG, SCARF2, ITGA3, MERTK, MLC1, NCF4, GFI1B, TGFBR2, CREBBP, PTPRQ, SPECC1L, STXBP1, NF2, SCN4A, ALMS1, ERBB3, TULP1, AR, P4HB, SQSTM1, DAG1, CENPF, MTOR, LAMA1, TAF6, OPHN1, PIK3CD, IFNG, MRE11A, DSP, CCND1, TALDO1, RPL5, ITPR1, HSPD1, RPS10, KRAS, PPP2R2B, TP63, SMC3, CAV3, TUBG1, DDR2, AP4M1, SMAD4, DVL3, TAF1, CEP290, TPM2, HDAC6, CHRNA1, CLCN2, SLC6A3, NUP62, PPP2R1A, TUBB, MYO7A, AKT1, TPI1, PPIB, DIAPH1, SH3PXD2B, HGF, GLI3, KIF11, CDH1, IL1B, ZBTB16, HSPA9, EFNB1, XRCC4, SLC2A1, SLC9A1, MASP1, HNRNPK, NPHP1, PIK3R2, PCDH15, GATA4, DMPK, SPRY4, VPS11, ENG, HLA-B, PTPN11, DST, PAK3, BDNF, ADAM17, JAM3, EPS8, ATXN3, AP3B1, HES7, PNPLA2, IQSEC2, TSC1, SKI, CTNNA1, PEX14, TRIM32, GJB6, APOB, MMP1, NAA10, SPATA5, ACTB, NEK2, PIK3CA, ACTN1, GFAP, WNK1, ITGA2B, ITGA8, KMT2A, CDK5RAP2, SPTAN1, PODXL, DES, TGFBI, S1PR2, ARHGDIA, DLL4, ADAR, NHS, CLDN19, CUL7, KIF1A, TUB, SOX9, DOK7, NDE1, HOXB1, MAP2K2, ADCY6, NME1, HOMER2, NOTCH1, ERCC3, ITGB4, CRIPT, CD3E, SCARB2, CFL2, FZD4, DMXL2, MYO18B, KIF5C, CDH3, PIKFYVE, ACTA2, KAT6B, GP6, FGFR3, CACNA1A, SLC6A17, STAT3, BRAF, SNAP25, DMD, GRIN2B, MYOC, IGF1, PLEC, GRM1, KLC2, PRICKLE1, HRAS, SMC1A, DRD2, FGFR1, ASCL1, DVL1, PARK2, TP53, LRP2, IKBKB, C8orf37, SNCA, PRKCG, MYH2, GJB3, TUBB4A, DYNC1H1, CENPJ, AIRE, DLG3, CHRNE, PAX3, ACTG1, JAGN1, KCNJ10, CLDN1, TRAF3IP1, MPDZ, VCP, EIF2AK3, PCLO, CACNA1C, ATXN1, IGF1R, PLG, BLM, DNMT1, IL6, PIK3R1, DCN, ADAMTSL4, NEFL, POLR1C, OTOF, APC, TMEM67, SMAD3, HSPG2, NLRP3, DDX58, CAST, LMNA, F2, PAFAH1B1, RAD21, IGBP1, IKBKG, EFTUD2, NRXN1, AGT, LEP, CDK5, KDM1A, NPHP4, RPGRIP1L, LRP4, EIF4A3, MYO3A, FMR1, NDRG1, CDKN1C, PDE6D, PPP1R15B, CLDN14, NOP56, CACNA1B, JAG1, CNBP, GRID2, ECM1, RBPJ, GLI2, ACTA1, DNM1, GRIP1, SMARCA4, CBL, ELN, RPS7, EGFR, KCNH1, GPC3, IGF2, FERMT3, NOTCH2, KCNJ1, GATA2, SNAP29, SH3BP2, ATP1A2, ASXL1, ABCA1, DCX, ITGA6, APTX, MET, RPS17, GLIS3, EEF1A2, DSE, GJB1, IRF8, CLDN16, RPS6KA3, WAS, USH2A, INS, DNM1L, CDON, ITGB3, KIF14, FRMD4A, SHANK3, SDCCAG8, STAT1, YAP1, SYN1, CNTN1, CARD14, VHL, USP9X, RAPSN, KIF1B, RDX, PLK4, ITGB2, BIN1, FHL1, ATP5A1, DCTN1, SCN1A, DSG1, RHO, TERT, GAD1, RPS19, PTEN, TRPV4, CHRND, AHI1, ZC4H2, PDSS2, MYH7, STUB1, EIF2B1, SYNJ1, TBP, MYH9, FGF10, TGFB1, ERCC4, ACVR1, SYT2, SOS1, HERC2, SP110, RAB3GAP1, CACNA1S, ACD, LIMS2, VAMP1, ABCC8, EDNRB, OCLN, TINF2, PRRT2, FLNB, PTPRF, SMPX, PDGFB, CAV1, MPC1, PRPF8, COL1A1, HMCN1, CHRNG, PRKACA, PIGT, DNM2, SEMA3A, SLC1A3, PPARG, CD19, AGTR1, BBS4, HIBCH, GAN, EIF2B2, CTNNB1, BTK, MARVELD2, CDKN2A, CLASP1, NEU1, TGM1, SCN8A, BMP4, BLOC1S6, COL13A1, PDGFRB, RAB3GAP2, EMD, CNTNAP1, PTCH1, ACE, HEPACAM, CIB2, PAX6, CAPN3, TNC, LYST, GCH1, LMNB1, LRP1, RYR1, CEP63, ARFGEF2, MECOM, MEGF10, IKBKAP, HS6ST1, AGRN, PROM1, HTT, TGFBR1, EP300, LIM2, RPIA, ARHGEF6, MYO6, NOTCH3, SF3B4, PCNA, FERMT1, PTPRC, LRP6, ARHGAP31, EDN1, TTR, SLX4, KCNJ11, CACNA1G, GJA1, SMARCA2, MYH3, CHRNB1, COL17A1, KIF22, PNKP, GNAQ, PRKDC, DTNBP1, TAF2, ATP1A3, TUBA1A, TOR1A, ITCH, MUSK, CHRM3, DDOST, INPPL1, RUNX2, SLC17A8, FLNA, NGF, GJB2, CASK, SGCE, NEB, POLR3A, INSR, SERPINH1, FGFR2, PACS1, DRD5, L1CAM, RET, SPTBN2, KCNJ2, HACE1, MYH11, ATR, ATIC, CORO1A, SHH

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OSTEOGENESIS IMPERFECTA, TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, ?LICHTENSTEIN-KNORR SYNDROME, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MACULAR DYSTROPHY, PATTERNED, 2, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, THANATOPHORIC DYSPLASIA, TYPE I, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SECKEL SYNDROME 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ZIMMERMANN-LABAND SYNDROME 2, COLE-CARPENTER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CAMURATI-ENGELMANN DISEASE, HUTCHINSON-GILFORD PROGERIA, CATSHL SYNDROME, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, USHER SYNDROME, TYPE IJ, DEAFNESS, X-LINKED 4, AURICULOCONDYLAR SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, CORNEAL DYSTROPHY, CONGENITAL STROMAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, STROMME SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TOOTH AGENESIS, SELECTIVE, 7, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, RENAL TUBULAR DYSGENESIS, TRIGONOCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PORETTI-BOLTSHAUSER SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, HYPOCHONDROPLASIA, RETINITIS PIGMENTOSA 38, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 8, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, FOVEAL HYPOPLASIA 1, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CINCA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MUCKLE-WELLS SYNDROME, DIAMOND-BLACKFAN ANEMIA 9, SHORT SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, DIAMOND-BLACKFAN ANEMIA 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IX, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, DISTAL, TATEYAMA TYPE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, SADDAN, DEAFNESS, AUTOSOMAL RECESSIVE 28, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, DEAFNESS, AUTOSOMAL DOMINANT 56, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, JACKSON-WEISS SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ?MYOPATHY, SCAPULOHUMEROPERONEAL, OTOPALATODIGITAL SYNDROME, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NANCE-HORAN SYNDROME, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, KINDLER SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MYOPIA 23, AUTOSOMAL RECESSIVE, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, GILLESPIE SYNDROME, WIEDEMANN-STEINER SYNDROME, JAWAD SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, CONGENITAL, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SPONDYLOCOSTAL DYSOSTOSIS 5, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 24, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, LIANG DISTAL MYOPATHY, CORNELIA DE LANGE SYNDROME 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, GLAUCOMA 1A, PRIMARY OPEN ANGLE, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, VAN DEN ENDE-GUPTA SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, DEAFNESS, AUTOSOMAL RECESSIVE 48, BARAITSER-WINTER SYNDROME 1, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, KOSAKI OVERGROWTH SYNDROME, SESAME SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LEUKOCYTE ADHESION DEFICIENCY, RESTRICTIVE DERMOPATHY, LETHAL, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, ?FIBROMATOSIS, GINGIVAL, 1, CORNEAL DYSTROPHY, AVELLINO TYPE, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, ECTOPIA LENTIS ET PUPILLAE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, RENAL ADYSPLASIA, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DIAMOND-BLACKFAN ANEMIA 6, DEAFNESS, AUTOSOMAL RECESSIVE 37, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NOONAN SYNDROME 7, MICROPHTHALMIA, SYNDROMIC 6, HYPOBETALIPOPROTEINEMIA, CROUZON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ARTHROGRYPOSIS, DISTAL, TYPE 8, LADD SYNDROME, MYOTONIC DYSTROPHY 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MENTAL RETARDATION, X-LINKED 46, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, APERT SYNDROME, CHOROID PLEXUS PAPILLOMA, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ATELOSTEOGENESIS, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

MPDZ, GFI1B, DLL4, CAV1, FGFR1, APOB, APOE, COL1A1, MAP2K2, CNBP, RAD21, VPS11, ACTB, IGBP1, CENPF, RPS7, ACTN1, SMARCA4, RPL5, F2, ATP6V1B2, AGT, PPARG, SCARB2, MERTK, KDM1A, CDH1, ITGA8, TRIOBP, KMT2A, ENG, DST, ITGA3, PNPLA2, MMP1, DNM2, TGFBI, SERPINH1, BMP4, RPS19, MYOC, ARHGDIA, PDGFRB, IGF1, NGF, CNTNAP1, LRP6, RBPJ, KIF1A, STXBP1, ACTA1, ACE, LIMS2, TRPV4, KRAS, DCX, PAX6, EGFR, NHS, AR, TNC, P4HB, PIGT, NOTCH1, IL6, DAG1, ITGB4, EDNRA, TAF6, LAMA1, AGRN, CBL, CCND1, IFNG, TPM2, FHL1, RPS17, TGFBR1, TGFB1, ARHGEF6, MYO6, RPS10, CIB2, SF3B4, MYH3, BIN1, RBBP8, STAT3, PTPRC, INS, SNAP25, ARHGAP31, CAV3, EDN1, TTR, RET, ITGB3, DOCK7, DDR2, CTNNB1, SMAD4, CDK5, COL17A1, STAT1, YAP1, LEP, DMD, VHL, KIF1B, PPP2R1A, TUBB, RDX, ITGB2, AKT1, PLEC, INPPL1, PRKDC, PPIB, ASCL1, ATXN1, WAS, TP53, LRP2, ATP5A1, HNRNPK, LRPAP1, SMC1A, HSPA9, ATIC, PTEN, FGFR3, CHRM3, ITGA6, FLNA, SLC9A1, MYH7, STUB1, EIF2B1, KCNJ10, KIF22, IGF2, PTPN11, LMNA, ITGA2B, EIF2AK3, FGF10, CLDN1, SMPX, SPRY4, FERMT1, PRKACA, HLA-B, PLG, PDGFB, SOS1, CTNNA1, SCARF2, DNMT1, FGFR2, BRAF, DRD5, DCN, L1CAM, ADAMTSL4, GPC3, SPTBN2, CAST, SMC3, HRAS, GJA1, LRP1, HES7, MYH11, SPTAN1, HSPG2, NLRP3, PIK3R1, FLNB, PTPRF, CASK, SHH

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, ATROPHODERMA VERMICULATUM, IMMUNODEFICIENCY 15, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, ?LICHTENSTEIN-KNORR SYNDROME, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MELNICK-NEEDLES SYNDROME, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, BARAITSER-WINTER SYNDROME 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, SPINOCEREBELLAR ATAXIA 14, MYOTUBULAR MYOPATHY, X-LINKED, DYSTONIA-11, MYOCLONIC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, HERMANSKY-PUDLAK SYNDROME 1, OTOPALATODIGITAL SYNDROME, TYPE II, EPISODIC ATAXIA, TYPE 2, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, RENAL TUBULAR DYSGENESIS, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CENANI-LENZ SYNDACTYLY SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, ?DEAFNESS, AUTOSOMAL DOMINANT 68, OCULOECTODERMAL SYNDROME, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, LOEYS-DIETZ SYNDROME 3, PHELAN-MCDERMID SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, BLEEDING DISORDER, PLATELET-TYPE, 15, DEAFNESS, AUTOSOMAL DOMINANT 41, OSTEOGENESIS IMPERFECTA, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, SPINOCEREBELLAR ATAXIA 17, SCLEROSTEOSIS 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, OTOPALATODIGITAL SYNDROME, TYPE I, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1B, AUTOSOMAL RECESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, SPINOCEREBELLAR ATAXIA 6, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {BLEPHAROSPASM, PRIMARY BENIGN}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, RETINITIS PIGMENTOSA 37, WIEACKER-WOLFF SYNDROME, TIMOTHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, JACKSON-WEISS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, DEAFNESS, AUTOSOMAL RECESSIVE 30, OSTEOGENESIS IMPERFECTA, TYPE II, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, FRAGILE X TREMOR/ATAXIA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, MACROCEPHALY/AUTISM SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, ?MYASTHENIC SYNDROME, CONGENITAL, 18, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, DEAFNESS, AUTOSOMAL RECESSIVE 24, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, PCWH SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, EXUDATIVE VITREORETINOPATHY 1, FRAGILE X SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, ?DYSTONIA 23, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ESCOBAR SYNDROME, MENTAL RETARDATION, X-LINKED 21/34, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, TREACHER COLLINS SYNDROME 3, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MYHRE SYNDROME, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CUTIS LAXA, AD, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LISSENCEPHALY 5, ?MYASTHENIC SYNDROME, CONGENITAL, 17, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 4C, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

MPDZ, LAMB1, SYNE1, PAFAH1B1, PDE4D, COL1A1, CHRNG, SQSTM1, TBXA2R, NRXN1, AGT, AGTR1, HIBCH, PCYT1A, EDN1, CTNNB1, EIF4A3, MYO3A, FMR1, NDRG1, EPS8, SPTAN1, DNM2, CACNA1B, FZD4, BLOC1S6, GFI1B, MTMR2, SMAD4, GRID2, NR2E3, MUSK, DNM1, GRIP1, KRAS, ELN, DRD2, HOMER2, DRD5, DAG1, RYR1, FGFR1, SHANK3, CASK, ACTN1, ARFGEF2, MYO18B, KIF5C, MEGF10, SNCAIP, AGRN, DNM1L, ITPR1, CACNA1A, ACTA2, RPS6KA3, STAT3, ACD, SNAP25, NDUFS7, CAV3, GRIN2B, SGCE, IL1RAPL1, IGF1, CDK5, CHRNB1, KLC2, HDAC6, FLNA, P2RX2, DMD, RAPSN, CHRNA1, RDX, AKT1, NGF, PRKDC, ASCL1, IGF1R, ATXN1, TP53, EGFR, NEFL, SPTBN2, IKBKB, KIF11, CDH1, PRKCG, STXBP1, CHRM3, SOX10, CHRND, USH2A, ZC4H2, DLG3, CHRNE, SLC9A1, ACTG1, EIF2B1, PIK3R2, KCNJ10, AP4M1, TBP, DTNBP1, PCLO, CACNA1C, PARK2, SMARCA2, GRM6, LRP4, IL6, L1CAM, INS, PCNA, POLR1C, GRM1, PTEN, GJA1, LRP1, SMAD3, P2RX1, HSPG2, MTOR, PIK3R1

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 9, AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, OTOPALATODIGITAL SYNDROME, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, HERMANSKY-PUDLAK SYNDROME 1, COLE-CARPENTER SYNDROME 2, DYSTONIA-11, MYOCLONIC, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, DANON DISEASE, DYSAUTONOMIA, FAMILIAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SALLA DISEASE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, MACULAR DYSTROPHY, RETINAL, 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, VON WILLEBRAND DISEASE, TYPE 1, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JOUBERT SYNDROME 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, GILLESPIE SYNDROME, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, CATARACT 16, MULTIPLE TYPES, FRANK-TER HAAR SYNDROME, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, CARPENTER SYNDROME, LONG QT SYNDROME 1, SEBASTIAN SYNDROME, EMBERGER SYNDROME, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, NOONAN SYNDROME 4, ?JOUBERT SYNDROME 22, BRACHYDACTYLY, TYPE E2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, COWDEN SYNDROME 7, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, EXUDATIVE VITREORETINOPATHY 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, PSEUDOHYPOPARATHYROIDISM IA, CHERUBISM, MYOPATHY, DISTAL, TATEYAMA TYPE, MENKES DISEASE, COENZYME Q10 DEFICIENCY, PRIMARY, 3, WARBURG MICRO SYNDROME 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, CORNEAL DYSTROPHY, AVELLINO TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA 14, MACHADO-JOSEPH DISEASE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, ALBINISM, OCULOCUTANEOUS, TYPE III, CORNEAL DYSTROPHY, CONGENITAL STROMAL, TOOTH AGENESIS, SELECTIVE, 7, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, CLEFT PALATE, ISOLATED, DEAFNESS, AUTOSOMAL RECESSIVE 37, ATAXIA-TELANGIECTASIA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OCCIPITAL HORN SYNDROME, WRINKLY SKIN SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, FRAXE, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SEGAWA SYNDROME, RECESSIVE, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MEDNIK SYNDROME, COACH SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, PARKINSON DISEASE 20, EARLY-ONSET, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME 2, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, SPONDYLOPERIPHERAL DYSPLASIA, MECKEL SYNDROME 3, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, MASA SYNDROME, CRASH SYNDROME, EPSTEIN SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, SPINOCEREBELLAR ATAXIA 17, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SIALIC ACID STORAGE DISORDER, INFANTILE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, 3MC SYNDROME 1, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, DYSTONIA-1, TORSION, NEPHRONOPHTHISIS 11, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SENIOR-LOKEN SYNDROME 9, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 25, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, LOEYS-DIETZ SYNDROME 4, HERMANSKY-PUDLAK SYNDROME 7, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, FECHTNER SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, ?BARDET-BIEDL SYNDROME 19, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 68, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SPINOCEREBELLAR ATAXIA 21, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, LEPRECHAUNISM, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, PARKINSONISM-DYSTONIA, INFANTILE, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, AXENFELD-RIEGER SYNDROME, TYPE 1, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 3, JERVELL AND LANGE-NIELSEN SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, WISKOTT-ALDRICH SYNDROME, MARINESCO-SJOGREN SYNDROME, TANGIER DISEASE, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, PALLISTER-HALL SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {BLEPHAROSPASM, PRIMARY BENIGN}, RETINITIS PIGMENTOSA 41, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 5, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES, MICROPHTHALMIA WITH COLOBOMA 5, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ALBINISM, OCULOCUTANEOUS, TYPE IA, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, OCULODENTODIGITAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, PERRY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, BLEEDING DISORDER, PLATELET-TYPE, 15, CHOROIDEREMIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, TUBEROUS SCLEROSIS 2, ACHONDROGENESIS, TYPE IA, WAARDENBURG SYNDROME, TYPE 3, GALACTOSIALIDOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, LOWE SYNDROME, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, THYROID DYSHORMONOGENESIS 3, EXUDATIVE VITREORETINOPATHY 4, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CHOROID PLEXUS PAPILLOMA, WAGNER SYNDROME 1, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LOEYS-DIETZ SYNDROME 5, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, TIETZ ALBINISM-DEAFNESS SYNDROME, MENTAL RETARDATION, X-LINKED 90, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, WARBURG MICRO SYNDROME 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, DENT DISEASE 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, APOE, GLIS3, HGF, CAV1, APOB, MPDZ, ATP2B3, VPS53, SH3BP2, ACTB, GNAS, CTSA, FXN, RPL5, F2, AP4B1, DTNBP1, TUBB, PPARG, SCARB2, AGTR1, MFN2, AGL, OCA2, PTHLH, SYNJ1, CDH1, PROS1, BTK, EEF1A2, UBB, SLC17A5, CDKN2A, TG, PDE6D, TGFBR1, EPS8, SPTAN1, SEPT9, TH, DNM2, HLA-DQA1, NOP56, PIK3CA, TGFBI, VCAN, BMP4, S1PR2, SIL1, DLD, PDGFRB, UCHL1, DRD2, IGF1, CAPN3, IKBKAP, GATA3, OCRL, COL2A1, ATP6V0A2, MARS2, SF3B4, PTEN, ACTA1, DNM1, GP1BA, GRIP1, AIRE, SEC23A, SOX2, GJA1, APOA1, CBL, TUBA1A, EGFR, SERPINA1, CREBBP, ISG15, GPC3, TNC, IGF2, SQSTM1, VMA21, DRD5, LRP1, GLI2, PROC, GATA2, CHM, CD3E, LEP, ACTN1, AKT2, FZD4, ABCA1, AGRN, VAMP1, MEGF10, GFAP, TUBB4A, CCND1, MAFB, MET, IFNG, PROM1, SPARC, LRP5, HTT, IRF8, DNM1L, PDGFRA, TUBG1, DSE, TGFB3, HSPD1, NR2F1, ROR2, TMEM173, PCSK9, MYO6, EP300, TCIRG1, TSHR, GSC, RAB18, AP1S2, BIN1, AGT, WAS, VCP, AHI1, SEC23B, INS, LAMP2, SNAP25, TYRP1, MYO5A, TRIP11, GATA1, CAV3, SYT2, TYR, CACNA1G, SHH, TRAF3IP1, NECAP1, TGFB2, CTNNB1, ITPR1, SMAD4, CDK5, DVL3, MITF, VWF, PITX3, SPTBN2, GHR, HLA-DRB1, HDAC6, FLNA, SYN1, AP1S1, DMD, SOX9, SLC6A3, ACVR1, GRIN2B, KIF1B, DBH, PLK4, VPS11, ITGB2, PRKAR1A, AKT1, SERPINI1, SLC9A1, TAPBP, PRKDC, WNT5A, IGF1R, PARK2, ERBB3, TP53, UBE3A, TMEM67, ATP5A1, SLC6A17, SH3PXD2B, DCTN1, PAX6, LRPAP1, VPS33B, GLI3, EDN1, SNCA, SYNGAP1, IL1B, GAD1, PRKCG, EFNB1, SEC24D, F13A1, MUSK, CRYAB, SNAP29, DDOST, CC2D1A, ITGA6, DYNC1H1, RUNX2, SCYL1, RB1, USH2A, ATP6V1B1, SLC17A8, DLG3, CORO1A, KCNQ1, NGF, CD40LG, MASP1, HNRNPK, PAX3, OTX2, ALB, JAGN1, SMC3, PDSS2, KLC2, CLDN1, STXBP1, PTPN11, ATM, GATA4, ITGA2B, TBP, DDX58, ATP7A, AP3B1, IFT27, TGFB1, CASK, STAT1, STAT3, PRKACA, PCNA, CACNA1C, ATXN1, INSR, HLA-B, AP4M1, PLG, SOS1, PITX2, LDLR, DNMT1, ALDOA, PACS1, IL6, OTOF, PIK3R1, DMXL2, RAB3GAP1, ITM2B, GATA6, DCN, L1CAM, BDNF, TOR1A, RET, CTCF, LRP6, HRAS, HLA-DQB1, ATXN3, MYH9, PTPRF, OCLN, MYH11, ATR, HSPG2, EXOC8, ITGB3, PDGFB, RAB23, MTOR, ATIC

ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 8B, PEROXISOME BIOGENESIS DISORDER 5B, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 6B, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 14B, PEROXISOME BIOGENESIS DISORDER 3B, PEROXISOME BIOGENESIS DISORDER 11B

PEX12, PEX16, PEX13, PEX11B, PEX3, PEX10, PEX2, PEX19, PEX26, ABCD1

ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 5B, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), FANCONI ANEMIA, COMPLEMENTATION GROUP A, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 3B, ?SECKEL SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 6B, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, PEROXISOME BIOGENESIS DISORDER 14B, LOEYS-DIETZ SYNDROME 3, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4B, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, MENTAL RETARDATION, X-LINKED 63, ?MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, HEIMLER SYNDROME 2, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HEIMLER SYNDROME 1

PEX1, PEX14, MAP2K2, ACOX1, HSD17B4, PEX6, PEX12, PEX11B, SASS6, PPP2R1A, BRCA1, AGXT, GNPAT, PEX3, PEX10, ACSL4, TUBG1, PEX19, ABCD1, PEX16, PEX13, ABCD4, PEX5, SMAD3, PEX2, IKBKAP, CENPJ, FAR1

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EMBERGER SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ATROPHODERMA VERMICULATUM, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CATARACT 16, MULTIPLE TYPES, GLANZMANN THROMBASTHENIA, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DEAFNESS, AUTOSOMAL RECESSIVE 39, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, MYOPATHY, MYOFIBRILLAR, 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, MARINESCO-SJOGREN SYNDROME, FRAXE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TANGIER DISEASE, THYROID DYSHORMONOGENESIS 3, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, GLYCOGEN STORAGE DISEASE XII, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, RABSON-MENDENHALL SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, OSTEOGENESIS IMPERFECTA, TYPE XVII, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ?MYOPATHY, SCAPULOHUMEROPERONEAL, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, SPINOCEREBELLAR ATAXIA 17, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

ACTA1, APOE, TGFBR1, TGFB2, CTNNB1, APOA1, IGF1, IGF2, TGFB1, VWF, ACTN1, STAT1, TGFB3, F2, LRP1, AGT, GATA2, INSR, LEP, DBH, PLG, ITGB2, AKT1, APOB, ALDOA, IL6, UCHL1, ERBB3, LDLR, TG, CRYAB, SPARC, HGF, EP300, TBP, CTCF, ITGA2B, ITGB3, SIL1, PTEN, F13A1, SERPINA1, ALB, HSPG2, PROS1, INS, PDGFB

MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, BARDET-BIEDL SYNDROME 10, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, AURICULOCONDYLAR SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 9, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 4A, MANNOSIDOSIS, ALPHA-, TYPES I AND II, PAPILLON-LEFEVRE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, OTOPALATODIGITAL SYNDROME, TYPE II, MENTAL RETARDATION, X-LINKED 63, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, VERHEIJ SYNDROME, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DEAFNESS, AUTOSOMAL RECESSIVE 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, IMMUNODEFICIENCY 38, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, DEAFNESS, AUTOSOMAL DOMINANT 11, CLEFT PALATE, ISOLATED, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CEROID LIPOFUSCINOSIS NEURONAL 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, ACRODERMATITIS ENTEROPATHICA, HERMANSKY-PUDLAK SYNDROME 1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DYSTONIA-11, MYOCLONIC, SPINOCEREBELLAR ATAXIA 36, CAMURATI-ENGELMANN DISEASE, DANON DISEASE, DYSKERATOSIS CONGENITA, X-LINKED, DYSAUTONOMIA, FAMILIAL, HOLOPROSENCEPHALY-9, AMELOGENESIS IMPERFECTA, TYPE 1E, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PERIODONTITIS 1, JUVENILE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, SPINOCEREBELLAR ATAXIA 42, MULTIPLE SYNOSTOSES SYNDROME 1, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, ?MICROHYDRANENCEPHALY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MANDIBULOACRAL DYSPLASIA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, ATAXIA-TELANGIECTASIA-LIKE DISORDER, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, NEUROFIBROMATOSIS, FAMILIAL SPINAL, HAIM-MUNK SYNDROME, MACULAR DYSTROPHY, RETINAL, 2, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, CORNEA PLANA CONGENITA, RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, LEUKODYSTROPHY, HYPOMYELINATING, 11, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, JOHANSON-BLIZZARD SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, BLEEDING DISORDER, PLATELET-TYPE, 15, ?SECKEL SYNDROME 4, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, DEAFNESS, AUTOSOMAL DOMINANT 40, SECKEL SYNDROME 7, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CATARACT 16, MULTIPLE TYPES, ?LACRIMAL DUCT DEFECT, DEAFNESS, AUTOSOMAL RECESSIVE 36, CARASIL SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, COFFIN-SIRIS SYNDROME 3, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, LEBER OPTIC ATROPHY, DIAMOND-BLACKFAN ANEMIA 4, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OCCIPITAL HORN SYNDROME, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, CHOREOACANTHOCYTOSIS, DERMATOPATHIA PIGMENTOSA RETICULARIS, {PARKINSON DISEASE 8}, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HARTNUP DISORDER, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, GLUTAMINE DEFICIENCY, CONGENITAL, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, CARPENTER SYNDROME, HAY-WELLS SYNDROME, HEIMLER SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, SPEECH-LANGUAGE DISORDER-1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, SEBASTIAN SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE XIII, EMBERGER SYNDROME, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRICHOHEPATOENTERIC SYNDROME 1, RETINITIS PIGMENTOSA 59, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NESTOR-GUILLERMO PROGERIA SYNDROME, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, RETINITIS PIGMENTOSA 60, ?JOUBERT SYNDROME 22, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ACHONDROGENESIS IB, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GM2-GANGLIOSIDOSIS, AB VARIANT, BRACHYDACTYLY, TYPE E2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, VAN MALDERGEM SYNDROME 2, AMELOGENESIS IMPERFECTA, TYPE IA, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, RETINITIS PIGMENTOSA 13, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, RETINITIS PIGMENTOSA 2, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CLOVE SYNDROME, SOMATIC, PACHYONYCHIA CONGENITA 1, NOONAN SYNDROME 4, MUCOPOLYSACCHARIDOSIS VII, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, HEMOCHROMATOSIS, TYPE 4, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, COWDEN SYNDROME 7, MUENKE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DYSTONIA 9, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, PARAGANGLIOMAS 4, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, WAARDENBURG SYNDROME, TYPE 1, KERATOSIS PALMOPLANTARIS STRIATA I, AD, DEAFNESS, AUTOSOMAL DOMINANT 17, KEUTEL SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ABLEPHARON-MACROSTOMIA SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, BETHLEM MYOPATHY 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, DEAFNESS, AUTOSOMAL DOMINANT 9, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, GLAUCOMA 1A, PRIMARY OPEN ANGLE, WAARDENBURG SYNDROME, TYPE 3, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, ?DYSTONIA 23, PARKINSON DISEASE 19, JUVENILE-ONSET, VAN DEN ENDE-GUPTA SYNDROME, NAIL-PATELLA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1, IMAGE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, DESBUQUOIS DYSPLASIA 1, MYOPATHY, DISTAL, TATEYAMA TYPE, PEROXISOME BIOGENESIS DISORDER 14B, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, LISSENCEPHALY 5, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), CRANIOSYNOSTOSIS, TYPE 2, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, DEAFNESS, X-LINKED 5, KANZAKI DISEASE, DIAMOND-BLACKFAN ANEMIA 10, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, DYSTONIA 26, MYOCLONIC, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, DEAFNESS, AUTOSOMAL DOMINANT 8/12, DEAFNESS, AUTOSOMAL DOMINANT 13, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CATARACT 9, MULTIPLE TYPES, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), {BLEPHAROSPASM, PRIMARY BENIGN}, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, MARFAN LIPODYSTROPHY SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, XERODERMA PIGMENTOSUM, GROUP B, SPINOCEREBELLAR ATAXIA 11, HOLOPROSENCEPHALY-5, CATARACT 19, MULTIPLE TYPES, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, NETHERTON SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, CHEDIAK-HIGASHI SYNDROME, BRACHYOLMIA TYPE 3, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, {OROFACIAL CLEFT 6}, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 9, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ?RETINITIS PIGMENTOSA 67, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OPTIC ATROPHY 1, ?CATARACT 43, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, VAN DER WOUDE SYNDROME, ADULT SYNDROME, BONE MARROW FAILURE SYNDROME 1, RETINITIS PIGMENTOSA 65, CONE-ROD DYSTROPHY 15, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES, CHERUBISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, WATSON SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HOLOPROSENCEPHALY-7, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?SPINOCEREBELLAR ATAXIA 26, PROLIDASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AMINOACYLASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, OCCULT MACULAR DYSTROPHY, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, HYPOTRICHOSIS 11, LOEYS-DIETZ SYNDROME 2, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, FARBER LIPOGRANULOMATOSIS, WAARDENBURG SYNDROME, TYPE 2D, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FUMARASE DEFICIENCY, PYCNODYSOSTOSIS, SENIOR-LOKEN SYNDROME 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ALBINISM, OCULOCUTANEOUS, TYPE III, CORNEAL DYSTROPHY, CONGENITAL STROMAL, PSEUDOHYPOPARATHYROIDISM IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE XVII, GRISCELLI SYNDROME, TYPE 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, USHER SYNDROME, TYPE 1C, DEAFNESS, AUTOSOMAL RECESSIVE 37, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, MYOCLONUS, FAMILIAL CORTICAL, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LISSENCEPHALY 3, OSTEOGENESIS IMPERFECTA, TYPE IV, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERFERRITINEMIA-CATARACT SYNDROME, MULTIPLE SULFATASE DEFICIENCY, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, PITYRIASIS RUBRA PILARIS, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 8, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, DYSTONIA 27, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, GAUCHER DISEASE, TYPE IIIC, CINCA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, SENIOR-LOKEN SYNDROME-1, ALAGILLE SYNDROME, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, WRINKLY SKIN SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, GALACTOKINASE DEFICIENCY WITH CATARACTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, MARTSOLF SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, STRIATONIGRAL DEGENERATION, INFANTILE, ARTHROGRYPOSIS, DISTAL, TYPE 8, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, OTOPALATODIGITAL SYNDROME, TYPE I, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, TARSAL-CARPAL COALITION SYNDROME, FRAXE, GAPO SYNDROME, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, CYSTINOSIS, OCULAR NONNEPHROPATHIC, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC, USHER SYNDROME, TYPE 2C, USHER SYNDROME, TYPE 2C, GPR98/PDZD7 DIGENIC, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, CORNEAL DYSTROPHY, AVELLINO TYPE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEGAWA SYNDROME, RECESSIVE, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, PAROXYSMAL NONKINESIGENIC DYSKINESIA, SYMPHALANGISM, PROXIMAL, 1A, GAUCHER DISEASE, TYPE I, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, FANCONI ANEMIA, COMPLEMENTATION GROUP C, SCLEROSTEOSIS 1, JOUBERT SYNDROME 10, DIHYDROPYRIMIDINURIA, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MENTAL RETARDATION, X-LINKED 30/47, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OPTIC ATROPHY PLUS SYNDROME, SORSBY FUNDUS DYSTROPHY, EVEN-PLUS SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, RETINITIS PIGMENTOSA 37, DEAFNESS, AUTOSOMAL DOMINANT 56, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MEIER-GORLIN SYNDROME 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PARKINSON DISEASE 20, EARLY-ONSET, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, AMELOGENESIS IMPERFECTA, TYPE IH, PARIETAL FORAMINA 1, MUSCULAR DYSTROPHY, CONGENITAL, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL, CATARACT 5, MULTIPLE TYPES, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, FRUCTOSE INTOLERANCE, WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, ?MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE, PRIMARY LATERAL SCLEROSIS, JUVENILE, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, NOONAN SYNDROME 10, GM1-GANGLIOSIDOSIS, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, NEUROFIBROMATOSIS, TYPE 1, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, SPONDYLOPERIPHERAL DYSPLASIA, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, FRAGILE X TREMOR/ATAXIA SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, MECKEL SYNDROME 3, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, DYSTONIA 25, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, JOUBERT SYNDROME 5, DEAFNESS, AUTOSOMAL DOMINANT 64, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, MICROPHTHALMIA, ISOLATED 8, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CHUDLEY-MCCULLOUGH SYNDROME, EPSTEIN SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, SED CONGENITA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HYPOCHONDROPLASIA, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, NEU-LAXOVA SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SPINOCEREBELLAR ATAXIA 17, OSTEOGENESIS IMPERFECTA, TYPE III, BIOTINIDASE DEFICIENCY, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, PENDRED'S SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, DEAFNESS, AUTOSOMAL RECESSIVE 53, RETINITIS PIGMENTOSA 41, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, X-LINKED, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, POLYGLUCOSAN BODY DISEASE, ADULT FORM, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEU-LAXOVA SYNDROME 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, FACTOR VII DEFICIENCY, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, GELEOPHYSIC DYSPLASIA 2, RETINITIS PIGMENTOSA 38, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, BRANCHIOOCULOFACIAL SYNDROME, RETINITIS PIGMENTOSA 11, [SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN], ALBINISM, OCULOCUTANEOUS, TYPE VI, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, COMPLEMENT FACTOR I DEFICIENCY, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, 3MC SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ?ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE, DYSTONIA-1, TORSION, CATSHL SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, JOUBERT SYNDROME 6, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MENTAL RETARDATION, X-LINKED 46, TUMOR PREDISPOSITION SYNDROME, CAPOS SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, ?MENTAL RETARDATION, X-LINKED 91, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ?MICROPHTHALMIA, SYNDROMIC 1, OGDEN SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, CEROID LIPOFUSCINOSIS, NEURONAL, 11, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, LEOPARD SYNDROME 1, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, XERODERMA PIGMENTOSUM, GROUP D, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, FAILURE OF TOOTH ERUPTION, PRIMARY, SJOGREN-LARSSON SYNDROME, WARBURG MICRO SYNDROME 3, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, MEESMANN CORNEAL DYSTROPHY, IMMUNODEFICIENCY 15, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, TEMTAMY SYNDROME, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MACULAR DYSTROPHY, PATTERNED, 2, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ADAMS-OLIVER SYNDROME 3, JOUBERT SYNDROME 8, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 6, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, PERRAULT SYNDROME 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, ?RETINAL ARTERIES, TORTUOSITY OF, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, RITSCHER-SCHINZEL SYNDROME 2, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, COENZYME Q10 DEFICIENCY, PRIMARY, 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, ANGIOEDEMA, HEREDITARY, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?OSTEOGENESIS IMPERFECTA, TYPE X, ?MENTAL RETARDATION, X-LINKED 100, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, TRANSCOBALAMIN II DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, ?LICHTENSTEIN-KNORR SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, WARBURG MICRO SYNDROME 2, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DEJERINE-SOTTAS DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, BETA-UREIDOPROPIONASE DEFICIENCY, FISH-EYE DISEASE, SECKEL SYNDROME 9, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?BARDET-BIEDL SYNDROME 19, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, LOEYS-DIETZ SYNDROME 3, FUCOSIDOSIS, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, IMMUNODEFICIENCY 19, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, GAUCHER DISEASE, PERINATAL LETHAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CEROID LIPOFUSCINOSIS, NEURONAL, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, HARTSFIELD SYNDROME, MENKES DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, SPINOCEREBELLAR ATAXIA 21, NORUM DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, GIANT AXONAL NEUROPATHY-1, USHER SYNDROME, TYPE 1G, ALPORT SYNDROME, AUTOSOMAL DOMINANT, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, COLD-INDUCED SWEATING SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, USHER SYNDROME TYPE 3B, SECKEL SYNDROME 1, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, ?SECKEL SYNDROME 6, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, AICARDI-GOUTIERES SYNDROME 6, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, FOVEAL HYPOPLASIA 1, PARKINSONISM-DYSTONIA, INFANTILE, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, KNOBLOCH SYNDROME 1, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, VOHWINKEL SYNDROME WITH ICHTHYOSIS, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, TEMPLE-BARAITSER SYNDROME, FILS SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, FLOATING-HARBOR SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, TIETZ ALBINISM-DEAFNESS SYNDROME, ?RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, BURN-MCKEOWN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, HUNTINGTON DISEASE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 20, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPOPHOSPHATEMIC RICKETS, AR, ACROCAPITOFEMORAL DYSPLASIA, HYPERLIPOPROTEINEMIA, TYPE IB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ATELOSTEOGENESIS, TYPE I, AXENFELD-RIEGER SYNDROME, TYPE 1, ?DIAMOND-BLACKFAN ANEMIA 11, AYME-GRIPP SYNDROME, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, SENIOR-LOKEN SYNDROME 6, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ACHONDROPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 89, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CATARACT 44, SERKAL SYNDROME, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, JERVELL AND LANGE-NIELSEN SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, AL-RAQAD SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 70, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, COLE-CARPENTER SYNDROME 1, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, DEAFNESS, AUTOSOMAL RECESSIVE 68, TREACHER COLLINS SYNDROME 3, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ECTOPIA LENTIS ET PUPILLAE, HYPOTRICHOSIS 8, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, XERODERMA PIGMENTOSUM, GROUP C, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, DEAFNESS, AUTOSOMAL DOMINANT 20/26, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, MELEDA DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 35, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE, IMMUNODEFICIENCY 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, GAUCHER DISEASE, TYPE III, PACHYONYCHIA CONGENITA 2, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, MUCOPOLYSACCHARIDOSIS TYPE IIID, MACULAR DEGENERATION, X-LINKED ATROPHIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, LEUKODYSTROPHY, HYPOMYELINATING, 12, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, ?CHARGE SYNDROME, CHARGE SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, JOUBERT SYNDROME 4, TREACHER COLLINS SYNDROME 2, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, SHPRINTZEN-GOLDBERG SYNDROME, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, COMBINED SAP DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CANAVAN DISEASE, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, SMITH-MCCORT DYSPLASIA 2, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, MYOFIBRILLAR, 6, SESAME SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, AGAMMAGLOBULINEMIA 3, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, PHYTANIC ACID STORAGE DISEASE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, ?SECKEL SYNDROME 8, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, TRIFUNCTIONAL PROTEIN DEFICIENCY, SMED STRUDWICK TYPE, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, STICKLER SYNDROME, TYPE I, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE, LISSENCEPHALY 4 (WITH MICROCEPHALY), PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 13, OROFACIODIGITAL SYNDROME I, RENAL ADYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACROMICRIC DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ADAMS-OLIVER SYNDROME 6, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, CUTIS LAXA, AD, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE, STEATOCYSTOMA MULTIPLEX, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 12, ?RETINITIS PIGMENTOSA 66, LADD SYNDROME, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, LONG QT SYNDROME 1, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, APERT SYNDROME, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, PALLISTER-HALL SYNDROME, LEOPARD SYNDROME 3, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, THROMBOCYTOPENIA 5, LEUKODYSTROPHY, HYPOMYELINATING, 3, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, RETINITIS PIGMENTOSA 71, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, PAPILLORENAL SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, SPINOCEREBELLAR ATAXIA 5, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, SADDAN, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, CARPENTER SYNDROME 2, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, MICROPHTHALMIA WITH COLOBOMA 5, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, COACH SYNDROME, CULLER-JONES SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MUCOLIPIDOSIS III GAMMA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, TRANSALDOLASE DEFICIENCY, MEIER-GORLIN SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CATARACT 18, AUTOSOMAL RECESSIVE, CARDIOFACIOCUTANEOUS SYNDROME, GNATHODIAPHYSEAL DYSPLASIA, MYOPATHY, MYOFIBRILLAR, 2, GILLESPIE SYNDROME, GRISCELLI SYNDROME, TYPE 1, HUTCHINSON-GILFORD PROGERIA, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), BEHR SYNDROME, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, AGAMMAGLOBULINEMIA, X-LINKED 1, BARDET-BIEDL SYNDROME 3, {CELIAC DISEASE, SUSCEPTIBILITY TO}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, OSTEOGENESIS IMPERFECTA, TYPE VIII, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, TRIGONOCEPHALY 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IC, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, DYSTONIA-12, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, DEAFNESS, AUTOSOMAL RECESSIVE 23, USHER SYNDROME, TYPE 1B, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CORNEAL OPACIFICATION AND OTHER OCULAR ANOMALIES, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET, LEBER OPTIC ATROPHY AND DYSTONIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PERRY SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 49, FEINGOLD SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, MAST SYNDROME, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, URBACH-WIETHE DISEASE, CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, WHITE SPONGE NEVUS 2, USHER SYNDROME, TYPE 1F, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, ?DEAFNESS, AUTOSOMAL RECESSIVE 61, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ALKAPTONURIA, GALACTOSE EPIMERASE DEFICIENCY, NEPHROTIC SYNDROME, TYPE 8, ADAMS-OLIVER SYNDROME 5, CHOROIDEREMIA, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, JACKSON-WEISS SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS 11, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?CANDIDIASIS, FAMILIAL, 8, ARTHROGRYPOSIS, DISTAL, TYPE 2A, HYPER-IGD SYNDROME, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), TUBEROUS SCLEROSIS 2, EXUDATIVE VITREORETINOPATHY 1, DEAFNESS, AUTOSOMAL RECESSIVE 21, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, OSTEOGENESIS IMPERFECTA, TYPE IX, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORPUS CALLOSUM AGENESIS, OSTEOGENESIS IMPERFECTA, TYPE II, VAN MALDERGEM SYNDROME 1, MECKEL SYNDROME 4, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, THYROID DYSHORMONOGENESIS 1, BAMFORTH-LAZARUS SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, GM1-GANGLIOSIDOSIS, TYPE III, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, OROFACIODIGITAL SYNDROME IV, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, NIEMANN-PICK DISEASE, TYPE C2, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ?DYSTONIA, JUVENILE-ONSET, CORPUS CALLOSUM, PARTIAL AGENESIS OF, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, AGAMMAGLOBULINEMIA 2, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, CORNELIA DE LANGE SYNDROME 3, SECKEL SYNDROME 5, ?MYOSCLEROSIS, CONGENITAL, BIRT-HOGG-DUBE SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, DENTAL ANOMALIES AND SHORT STATURE, KNIEST DYSPLASIA, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RAINE SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MULTIPLE ENDOCRINE NEOPLASIA IIB, COENZYME Q10 DEFICIENCY, PRIMARY, 5, MACROCEPHALY/AUTISM SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, NEUROFIBROMATOSIS, TYPE 2, GENITOPATELLAR SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ABETALIPOPROTEINEMIA, RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), THYROID DYSHORMONOGENESIS 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, LATHOSTEROLOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ECTOPIA LENTIS, FAMILIAL, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, EXUDATIVE VITREORETINOPATHY 4, DARIER DISEASE, METACHROMATIC LEUKODYSTROPHY, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, VOHWINKEL SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, EHLERS-DANLOS SYNDROME, TYPE IV, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AGAMMAGLOBULINEMIA 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HERMANSKY-PUDLAK SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, BLEEDING DISORDER, PLATELET-TYPE, 11, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CATARACT 21, MULTIPLE TYPES, WEAVER SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, GM1-GANGLIOSIDOSIS, TYPE II, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, AGAMMAGLOBULINEMIA 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, DIAMOND-BLACKFAN ANEMIA 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, CEROID LIPOFUSCINOSIS, NEURONAL, 2, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, POPLITEAL PTERYGIUM SYNDROME 1, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, ?RETINITIS PIGMENTOSA 23, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, JOUBERT SYNDROME 18, MYOPIA 24, AUTOSOMAL DOMINANT, CRANIOSYNOSTOSIS 6, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 30, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, RETINITIS PIGMENTOSA 70, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, CK SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?MENTAL RETARDATION, X-LINKED 101, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CEROID LIPOFUSCINOSIS, NEURONAL, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, HERMANSKY-PUDLAK SYNDROME 7, CORNELIA DE LANGE SYNDROME 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 3, SIALURIA, MUCOPOLYSACCHARIDOSIS IVA, DENT DISEASE 2, ATELOSTEOGENESIS, TYPE III, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, LSS, APOE, LRPAP1, LAMB1, SQSTM1, FGFR1, PROS1, TCTN3, LMNA, SPINT2, CD3E, SPINK5, GNAS, WNT5A, GLI3, COL3A1, ATP6V1B1, FTL, KRIT1, TP63, ADAMTS18, TRMT10A, LRRK2, PNKD, VMA21, PCYT1A, BCOR, CDC6, CD3D, GALK1, AKT2, NRAS, NOG, VARS2, DST, ITGA3, PAH, FH, PHF8, PNPT1, MERTK, HPGD, MLC1, FZD4, WNK1, INPP5E, ASPM, RPS19, GFI1B, CYB5R3, CREBBP, GNE, HGD, GTPBP3, MAFB, TECTA, DMP1, PCNA, VLDLR, GP1BA, SCN4A, IL1RN, KL, NFKB2, APOA1, SOX2, CHMP1A, KIF21A, COL6A2, SLC26A2, OCRL, NDUFA1, CD79A, IGBP1, DNMT3A, THRA, MRPL44, DAG1, GLI2, BUB1B, CENPF, ABAT, ADCY1, KCNJ10, CASK, TAF6, LAMA1, BTD, SLC4A4, PIK3CD, GRIN2B, ELN, MEGF8, MRE11A, AIFM1, CBL, DNA2, CCND1, TPP1, TALDO1, COMP, TPM2, ABCA1, RPL5, SUCLA2, C1QTNF5, AP1S2, UNC45B, SLC6A19, SGSH, IL6, BMP1, GALNT3, HSPD1, WWOX, ROR2, CHAT, TUBGCP4, RPS10, ATP6V1B2, GAD1, RYR1, TNNT2, GDF5, KRT25, C12orf57, DUSP6, NDUFA10, KAT6B, SMC3, NDUFS7, SEPT9, MLPH, GATA1, TUFM, CP, BANF1, TUBG1, LYST, COCH, CTNNB1, SERPINC1, SUFU, LTBP3, BCS1L, CTSK, SLC25A12, CHST14, LIM2, CEP290, SLURP1, IGHM, HDAC6, LRP5, SH3TC2, LEP, LAMA3, CTSD, SOX9, PQBP1, SLC6A3, NUP62, PPP2R1A, SLC40A1, TUBB, NDUFA2, MYO7A, VPS11, AKT1, RIPK4, INPPL1, PPIB, UBA1, LRPPRC, HINT1, DIAPH1, NONO, UBE3A, SPTBN2, SLC6A17, LIPE, STUB1, HGF, TUBA1A, TWIST1, KIF11, NSDHL, CLP1, CTNS, IL1B, FANCA, HSPA9, EFNB1, MBD5, ECHS1, MUSK, XPC, ENG, NOD2, MTM1, CDON, TAC3, ADCY6, POLA1, CUL4B, MT-ND4, SLC2A1, MOGS, IRF8, FGF23, SLC9A1, MASP1, PINK1, DIABLO, LAMC2, UBE2A, MTPAP, NPHP1, LAMA2, AP4M1, MSX2, GATA4, SPG7, IFT27, RARS, TSR2, MT-CO2, ETFDH, GPSM2, IGFBP7, HLA-B, PCDH15, HMGB3, COL4A3BP, SCARF2, PDGFRB, ALDOA, PTPRC, COL4A3, PTRH2, DMXL2, NEU1, GMPPA, ZMPSTE24, KRT3, BDNF, SNRPB, PRSS23, KERA, P4HB, PRPF4, CTCF, LRP6, CDK5RAP2, ATXN3, ATP7A, DHCR24, POLR3B, KRT12, PPP1R15B, ALB, TSC1, TAF1, HRAS, ARSB, GM2A, EZH2, DMPK, NDUFS2, FSHB, PEX14, SEC23A, PARK7, TREX1, ARHGDIA, IRX5, TRAIP, QARS, MMP1, MAP2K2, NAA10, NR4A2, ACTB, DDC, GRN, MOCS2, RPS7, COL1A2, DGUOK, AP4B1, COL11A2, ZIC1, PEX13, PNPO, FCGR3A, ACY1, DCX, GJA1, IDUA, HCFC1, KMT2A, COL6A1, SLC25A1, ARSE, IKBKAP, EPS8, NPR2, PROK2, BLNK, NEK8, DES, MT-CO3, TGFBI, SOS1, SZT2, PRF1, S1PR2, UPB1, RBPJ, DLD, MITF, USH1C, ADAR, CAPN3, CHD2, NR2E3, ISG15, CLCN7, IL2RG, PXDN, SF3B4, TGFBR2, SHOC2, RRM2B, TNNT3, NDE1, ALDOB, SLC26A4, AP5Z1, TFAP2A, CYP7B1, SRCAP, TRPV4, ANO5, CARD14, ZIC2, NOTCH1, MYCN, ERCC3, CTSC, TTC37, ATP2B3, SRP72, CORO1A, EDNRA, P3H1, MEF2C, C9orf72, SCARB2, EGR2, AARS, CFL2, VCAN, ST14, PAK3, MYO18B, KIF5C, COL17A1, GK, PRKACG, EARS2, CRYAB, SCP2, KLC2, VPS33B, PIKFYVE, TIMP3, LCAT, ERLIN2, GP6, CDH23, HARS, DYNC2H1, PKHD1, EEF2, ACTA2, STS, RB1, RAB18, VIPAS39, STAT3, BRAF, SLC26A5, SNAP25, NDUFS3, LAMB3, PIGA, ORC4, COL18A1, ALPL, GNPTG, NDUFB3, MT-ATP6, TTC19, RPS28, KRT5, F13A1, CBS, F12, UBR1, SC5D, GMPPB, PEX11B, NDUFS4, NIN, ALDH3A2, EDNRB, NDN, SMC1A, PLEC, TXNL4A, HNMT, ASCL1, NAGLU, ATXN1, ERBB3, COQ9, EGFR, SOX18, LRP2, IKBKB, KCTD17, CACNA1D, TNFRSF11B, SNCA, ACVRL1, PRKCG, FAT4, NF1, FREM2, QDPR, KIF4A, MAF, ANTXR1, ESRRB, TUBB4A, DYNC1H1, MT-ND3, CENPJ, AGPAT2, CLCF1, POLD1, VDR, COG4, AR, DLG3, COL25A1, KRT14, DYRK1A, AIMP1, PDHX, SLC12A6, PAX3, ACTG1, ATP2A2, JAGN1, GNS, B3GAT3, RORC, ITGB4, IGF2, APOC2, PRPF6, GATA6, DVL1, MTR, PCLO, STAT1, EXOC8, ZBTB24, CACNA1C, PARK2, PLG, ETFA, BLM, DNMT1, NIPBL, WDR60, DCN, PIK3R1, ITM2B, RBP3, OFD1, PTHLH, PCSK9, ADAMTSL4, NEFL, POLR1C, AGA, APC, KIF1BP, VPS35, GDNF, ASPA, ATP1A3, FERMT3, ARL13B, MGP, ALOXE3, PROM1, SMAD3, ADAM17, HSPG2, NLRP3, CDH1, DDX58, ITGA6, C10orf2, F10, MTOR, ATIC, PEX5, PDE4D, KANK2, F2, ASAH1, PAFAH1B1, CTNNA1, PRPF31, SDHD, SALL1, RAD21, ALDH6A1, F7, RPS17, BRCA2, CDK6, IKBKG, CTSA, MSX1, LOR, EFTUD2, NRXN1, RPS26, MAG, AGT, PMM2, GCK, GNAI3, ATP1A2, CDK5, FYCO1, TRAPPC2, NOTCH3, PPP1R3A, DKC1, KDM1A, PSAT1, ESPN, RBMX, APOB, CC2D1A, PDCD1, SLC24A5, NEB, ECE1, STK11, MYO3A, DPYS, NDRG1, ITCH, PDE6D, PNPLA2, LAMB2, COL1A1, FANCM, NOP56, PIK3CA, ABCD1, GNAL, LTBP4, ACSL4, BMPER, JAG1, MYH9, HADHA, CRYM, IGSF3, CNBP, GRID2, ECM1, BAG3, CEP152, COL2A1, BAP1, MYH2, NUBPL, ACTA1, DNM1, PABPN1, GRIP1, ACVR1, SMARCA4, RUNX1, DSP, TWIST2, LZTR1, FIBP, KCNH1, DRD2, SLC39A4, CRYAA, SEMA3E, NOTCH2, TACSTD2, ROBO3, APTX, MAPT, FANCC, GATA2, CHM, CHRM3, SH3BP2, NEK2, HEXA, NTRK1, ACTN1, HNRNPK, HNRNPDL, MSMO1, GFPT1, PRSS12, PLOD1, PROC, PLOD3, PSMB8, GAA, SNCAIP, MET, NFKBIA, KARS, ACP5, MPC1, MCPH1, KRT16, SPARC, EEF1A2, DSE, SPG21, NR2F1, FKBP14, TUBB2B, TMEM173, TSHR, IFNG, SCYL1, GSC, GP9, POLR1D, NPC2, RPS6KA3, TFG, SASS6, VCP, NDUFV1, RPL26, LAMP2, PAM16, PIK3R2, TYRP1, GFAP, COL7A1, FAM20C, TECR, ITGB3, ALS2, MT-CYB, SMPD1, HSD17B10, AGTR1, FOXP2, PITX3, SHANK3, PAX2, LMX1B, HLA-DRB1, KRAS, SYN1, CNTN1, TGFB1, VHL, OTX2, COL4A1, RAPSN, ARL6, KIF1B, LTBP2, TNFRSF1A, BRCA1, ITGB2, HIBCH, TUBB3, PSAP, FLNB, SMS, NOL3, FBN1, ALDH1A3, PHGDH, DCTN1, HCCS, IHH, DTNBP1, KRT74, DSG1, RHO, TERT, TTN, NDUFA9, ACADSB, CA8, PTEN, FGFR3, MTTP, POLG2, PPP2R2B, BTK, VPS13A, EIF2B5, EHMT1, GDF2, RBP4, AHI1, CLN3, SSR4, PGM1, ASXL1, FGD1, KCNQ1, SMARCB1, LHB, MYH7, KRT17, DLL4, STAMBP, EIF2B1, PUF60, STXBP1, MED25, TNFAIP3, ITGA2B, TBP, CDKN2A, AP3B1, FGF10, CLDN1, DMD, UPK3A, WAS, KITLG, AXIN2, PEPD, SNRPE, POLE, RNASET2, LRBA, RBCK1, HERC2, SLC1A4, CLIC5, FOXE1, PPT1, GBA, SUCLG1, RAB3GAP1, ABCC9, CYP1B1, HPCA, CACNA1S, ACD, LAMTOR2, DCPS, MAN1B1, GRM1, PTH1R, ABCC8, MFAP5, PEX6, POLG, MTAP, EIF2AK3, CD79B, OCLN, HTRA1, SPTAN1, IRF6, NDUFB11, TINF2, DHFR, PTPRF, SPTLC1, PDGFB, FUCA1, PODXL, CAV1, NF2, PRPF8, CAV3, TTBK2, SDHB, HMCN1, CASC5, ORC1, AMELX, XPNPEP3, PIGT, DNM2, ALG2, ITGB6, TAP1, SEMA3A, TYR, TBX3, NPC1, MYO5A, PPARG, INSR, COL5A1, AGL, SERPINB6, PRKAR1A, GALNS, PHYH, GAN, EIF2B2, PGK1, TCN2, DDR2, SOX10, NR1I3, MARVELD2, COL6A3, MAN2B1, RP1L1, RAB3GAP2, NCF4, EFEMP2, CLASP1, IGLL1, PTPN11, TGM1, TRIM32, ITGA8, SCN8A, DARS, BMP4, BLOC1S6, USH2A, SNAI2, ADGRG1, WNT4, MTMR2, SMAD4, EMD, SLC5A5, NDUFB9, MT-ND2, KRT13, DNMT3B, ATP6V0A2, MATR3, DDX3X, SPAST, PTCH1, WNT7A, DVL3, APOA2, STT3A, CECR1, FBLN5, TP53, FGFR2, ABCA12, FLCN, TNC, WRN, OAT, ETV6, IFT172, GCH1, LMNB1, AIPL1, LRP1, ARSA, ERCC2, COQ6, TARDBP, CACNA1B, CEP63, LHX3, ARFGEF2, ALDH2, SYNJ1, CANT1, DHDDS, HLA-DQA1, HS6ST1, UCHL1, GLA, AGRN, PRX, CD40LG, HTT, RELN, FMR1, FAM20A, TGFBR1, EP300, ITIH4, EPHX2, AP1S1, PHOX2A, ARHGEF6, NBN, MYO6, UBB, KRT6C, SOST, ZBTB16, KIF1A, MFN2, ADGRV1, CLN5, IQCB1, SEC23B, SPATA5, DCHS1, JAM3, SLC39A5, PCK1, PAX8, HSF4, LARS, EDN1, TTR, GPC3, CACNA1G, REN, TG, CFHR3, SMARCA2, MYH3, SLC9A6, SPR, VWF, TBX6, MECP2, MVK, ITPA, SERPINI1, TGFB2, DNAJC6, MYOC, RAB33B, CHRNA1, TSC2, BBS10, PACS1, RDX, TH, CCND2, GNAQ, GALE, HADHB, PRKDC, NDUFS1, PLK4, IGF1R, CFI, CDHR1, LDLR, TMEM67, PHOX2B, ICOS, MPDZ, PAX6, TOR1A, POMT1, TBC1D7, RPIA, MCM4, RP2, CDKN1C, DNAJC3, SIL1, ZDHHC15, SERPINA1, SNAP29, DDOST, TPI1, LMBRD1, SKIV2L, GPX4, GJB1, GUSB, SUMF1, INS, GLE1, ACE, NME1, FLNA, DNAJC13, BIN1, RAB23, TUBGCP6, GJB2, CCDC22, ATXN2, NGF, PRNP, GBE1, TRAF3IP2, ENTPD1, ATM, GLB1, SPG11, ETFB, SGCE, EXT2, PRKACA, FXN, CD19, GALC, AKT3, TBXA2R, SERPINH1, PITX2, TANGO2, RPGR, CNTNAP1, PLCG2, DRD5, LIFR, RPL11, GLUL, PDGFRA, L1CAM, OPA1, TAPBP, IGF1, ATP5A1, RET, PEX19, PNP, MTRR, HACE1, EXOSC3, MID2, AMPD2, NAGA, MPDU1, CFHR1, RUNX2, ABCB6, MYH11, MT-ND1, ATR, B4GAT1, CAST, MYH14, HPS1, TPM3, SHH