HEAD AND NECK

Associated diseases: ATROPHODERMA VERMICULATUM, PEROXISOME BIOGENESIS DISORDER 5B, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, JOUBERT SYNDROME 21, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, ACHONDROPLASIA, RETINOSCHISIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CEROID LIPOFUSCINOSIS NEURONAL 6, AMELOGENESIS IMPERFECTA, TYPE IIA2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, DYSAUTONOMIA, FAMILIAL, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, RUIJS-AALFS SYNDROME, ALAGILLE SYNDROME 2, CARPENTER SYNDROME 2, ARTHROGRYPOSIS, DISTAL, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, CORNEA PLANA CONGENITA, RECESSIVE, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), VAN DER WOUDE SYNDROME 2, JOUBERT SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, SECKEL SYNDROME 7, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, CK SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, VOHWINKEL SYNDROME WITH ICHTHYOSIS, FLOATING-HARBOR SYNDROME, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, PRADER-WILLI SYNDROME, {PARKINSON DISEASE 8}, MUCOPOLYSACCHARIDOSIS TYPE IIID, ACROMELIC FRONTONASAL DYSOSTOSIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, NEUROFIBROMATOSIS, TYPE 1, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, SPINOCEREBELLAR ATAXIA 8, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, KAHRIZI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, EPISODIC KINESIGENIC DYSKINESIA 1, NESTOR-GUILLERMO PROGERIA SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 77, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, ?MECKEL SYNDROME 12, SPINOCEREBELLAR ATAXIA 19, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MUENKE SYNDROME, OPSISMODYSPLASIA, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, ABLEPHARON-MACROSTOMIA SYNDROME, ?AL-GAZALI-BAKALINOVA SYNDROME, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LEBER CONGENITAL AMAUROSIS 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, ?DEAFNESS, AUTOSOMAL RECESSIVE 61, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, JOUBERT SYNDROME 23, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, APHAKIA, CONGENITAL PRIMARY, LEBER CONGENITAL AMAUROSIS 12, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, MYOCLONIC-ATONIC EPILEPSY, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, DYSTONIA 26, MYOCLONIC, DEAFNESS, AUTOSOMAL RECESSIVE 29, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED 30/47, MARFAN LIPODYSTROPHY SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, XERODERMA PIGMENTOSUM, GROUP B, SPINOCEREBELLAR ATAXIA 11, CATARACT 19, MULTIPLE TYPES, SHAHEEN SYNDROME, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, CONE-ROD DYSTROPHY 20, BOTHNIA RETINAL DYSTROPHY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, USHER SYNDROME, TYPE 1C, RETINITIS PIGMENTOSA 62, AMELOGENESIS IMPERFECTA, TYPE IIA1, CILIARY DYSKINESIA, PRIMARY, 25, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, WAARDENBURG SYNDROME, TYPE 4B, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, RETINITIS PIGMENTOSA 65, CONE-ROD DYSTROPHY 15, ?SECKEL SYNDROME 6, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, COACH SYNDROME, CONE-ROD DYSTROPHY 18, ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES, DEAFNESS, AUTOSOMAL RECESSIVE 98, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OCCULT MACULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27, STORMORKEN SYNDROME, RETINITIS PIGMENTOSA 35, MENTAL RETARDATION, X-LINKED 1, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, AMELOGENESIS IMPERFECTA, TYPE IB, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, ARTHROGRYPOSIS, DISTAL, TYPE 5, CUTIS LAXA, AD, PERIODIC FEVER, FAMILIAL, CUTIS LAXA, AUTOSOMAL DOMINANT 3, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, DYSTONIA 27, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, CINCA SYNDROME, SOTOS SYNDROME 1, ACHROMATOPSIA-2, RENAL TUBULAR DYSGENESIS, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, OCCIPITAL HORN SYNDROME, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, GALACTOKINASE DEFICIENCY WITH CATARACTS, MARTSOLF SYNDROME, CATEL-MANZKE SYNDROME, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, 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, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, DEAFNESS, AUTOSOMAL RECESSIVE 28, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, SCLEROSTEOSIS 1, JOUBERT SYNDROME 10, DIHYDROPYRIMIDINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, PERRAULT SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, PROLIDASE DEFICIENCY, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, MUSCULAR DYSTROPHY, CONGENITAL, CATARACT 5, MULTIPLE TYPES, SPINOCEREBELLAR ATAXIA 35, KOHLSCHUTTER-TONZ SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, NOONAN SYNDROME 10, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), ?MYASTHENIC SYNDROME, CONGENITAL, 18, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 101, MYOPIA 21, AUTOSOMAL DOMINANT, CHUDLEY-MCCULLOUGH SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, DOOR SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, OHDO SYNDROME, X-LINKED, FIBROCHONDROGENESIS 1, AMELOGENESIS IMPERFECTA, TYPE IIA5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, LOEYS-DIETZ SYNDROME 5, DEAFNESS, AUTOSOMAL DOMINANT 20/26, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA, SPINOCEREBELLAR ATAXIA 38, DEAFNESS, AUTOSOMAL RECESSIVE 1B, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, RETINITIS PIGMENTOSA 11, GNATHODIAPHYSEAL DYSPLASIA, 3MC SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, DEAFNESS, AUTOSOMAL DOMINANT 50, RETINITIS PIGMENTOSA 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, IRIS HYPOPLASIA AND GLAUCOMA, IRIDOGONIODYSGENESIS, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, FACTOR XIIIA DEFICIENCY, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, LEBER CONGENITAL AMAUROSIS 15, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, JOUBERT SYNDROME 8, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, FAILURE OF TOOTH ERUPTION, PRIMARY, SJOGREN-LARSSON SYNDROME, MARSHALL SYNDROME, MACULAR DEGENERATION, EARLY-ONSET, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PSEUDOACHONDROPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, SINGLETON-MERTEN SYNDROME 1, ?NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G, PARTINGTON SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 1, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, RETINITIS PIGMENTOSA 2, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, SC PHOCOMELIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, BETA-UREIDOPROPIONASE DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), SENIOR-LOKEN SYNDROME 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, FUCOSIDOSIS, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, MENTAL RETARDATION, X-LINKED 9, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, TRIGONOCEPHALY 2, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, HARTSFIELD SYNDROME, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, TIMOTHY SYNDROME, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3, GREENBERG SKELETAL DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, FRONTOMETAPHYSEAL DYSPLASIA, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, CENTRONUCLEAR MYOPATHY 5, DEAFNESS, AUTOSOMAL DOMINANT 41, YUNIS-VARON SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CORNELIA DE LANGE SYNDROME 2, HYPERLIPOPROTEINEMIA, TYPE IB, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, ?DIAMOND-BLACKFAN ANEMIA 11, GERODERMA OSTEODYSPLASTICUM, COMBINED SAP DEFICIENCY, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, MICROPHTHALMIA WITH LIMB ANOMALIES, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, MENTAL RETARDATION, X-LINKED 45, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, ?RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CATARACT, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, XERODERMA PIGMENTOSUM, GROUP C, IMMUNODEFICIENCY 14, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, CATARACT 14, MULTIPLE TYPES, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MEGALOCORNEA 1, X-LINKED, OLMSTED SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, RETINITIS PIGMENTOSA 70, TANGIER DISEASE, PAPILLON-LEFEVRE SYNDROME, MICROPHTHALMIA, ISOLATED 3, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, COENZYME Q10 DEFICIENCY, PRIMARY, 1, DEAFNESS, AUTOSOMAL DOMINANT 67, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, MEIER-GORLIN SYNDROME 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FRONTONASAL DYSPLASIA 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, OPITZ-KAVEGGIA SYNDROME, SENGERS SYNDROME, BARDET-BIEDL SYNDROME 5, CILIARY DYSKINESIA, PRIMARY, 5, AGAMMAGLOBULINEMIA 4, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, DYSTONIA-11, MYOCLONIC, DEAFNESS, X-LINKED 1, MACULAR DYSTROPHY, VITELLIFORM, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MANITOBA OCULOTRICHOANAL SYNDROME, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 3B, GILLESPIE SYNDROME, MYHRE SYNDROME, LAURIN-SANDROW SYNDROME, MYOTONIA CONGENITA, RECESSIVE, BLUE CONE MONOCHROMACY, AICARDI-GOUTIERES SYNDROME 5, CONGENITAL DISORDER OF DEGLYCOSYLATION, STEATOCYSTOMA MULTIPLEX, MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, LADD SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, BONE MARROW FAILURE SYNDROME 2, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, THROMBOCYTOPENIA 5, HYPERLIPOPROTEINEMIA, TYPE 1D, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, CEROID LIPOFUSCINOSIS, NEURONAL, 7, DEAFNESS, AUTOSOMAL DOMINANT 65, CHONDRODYSPLASIA, BLOMSTRAND TYPE, GALLOWAY-MOWAT SYNDROME, PRIMROSE SYNDROME, PELGER-HUET ANOMALY, PARAGANGLIOMAS 2, TRANSALDOLASE DEFICIENCY, BARDET-BIEDL SYNDROME 6, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, SMITH-MCCORT DYSPLASIA, SENIOR-LOKEN SYNDROME 8, LYMPHEDEMA, HEREDITARY, III, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, CYCLIC VOMITING SYNDROME; CVS, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, ?CATARACT 45, OSTEOGENESIS IMPERFECTA, TYPE VIII, MENTAL RETARDATION, X-LINKED 99, JOUBERT SYNDROME 16, LANGER MESOMELIC DYSPLASIA, ?DEAFNESS, AUTOSOMAL DOMINANT 68, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, HUNTINGTON DISEASE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, DYSTONIA 16, XIA-GIBBS SYNDROME, RETINITIS PIGMENTOSA 60, OCULODENTODIGITAL DYSPLASIA, ALLAN-HERNDON-DUDLEY SYNDROME, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, ?SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15, DEAFNESS, AUTOSOMAL RECESSIVE 49, COENZYME Q10 DEFICIENCY, PRIMARY, 2, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, SECKEL SYNDROME 2, 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, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, ADAMS-OLIVER SYNDROME 3, JOUBERT SYNDROME 2, MUCOPOLYSACCHARIDOSIS II, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, CHOROIDEREMIA, MENTAL RETARDATION, X-LINKED 29 AND OTHERS, NEPHRONOPHTHISIS 11, DYSTONIA-12, OSTEOGENESIS IMPERFECTA, TYPE XI, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, ACHONDROGENESIS, TYPE IA, DEAFNESS, AUTOSOMAL RECESSIVE 21, SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 94, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, BAMFORTH-LAZARUS SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, NEPHRONOPHTHISIS 13, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, FUMARASE DEFICIENCY, TUMOR PREDISPOSITION SYNDROME, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, JALILI SYNDROME, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, DEAFNESS, AUTOSOMAL DOMINANT 28, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 30, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, RETINITIS PIGMENTOSA 13, ?MYOSCLEROSIS, CONGENITAL, DENTAL ANOMALIES AND SHORT STATURE, ?APLASIA CUTIS CONGENITA, NONSYNDROMIC, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, EPISODIC ATAXIA, TYPE 6, CRANIOECTODERMAL DYSPLASIA 3, CATARACT 13 WITH ADULT I PHENOTYPE, IMMUNODEFICIENCY 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ECTOPIA LENTIS, FAMILIAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, POIKILODERMA WITH NEUTROPENIA, GALACTOSEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI ANEMIA, COMPLEMENTATION GROUP L, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, CEROID LIPOFUSCINOSIS, NEURONAL, 3, FOCAL FACIAL DERMAL DYSPLASIA 4, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, DEAFNESS, AUTOSOMAL RECESSIVE 48, UROFACIAL SYNDROME 2, CONE-ROD DYSTROPHY 19, RENPENNING SYNDROME, SPINOCEREBELLAR ATAXIA 13, SPONDYLOCOSTAL DYSOSTOSIS 5, NEMALINE MYOPATHY 10, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, GM1-GANGLIOSIDOSIS, TYPE II, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, AGAMMAGLOBULINEMIA 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11, COWDEN SYNDROME 7, ?DEAFNESS, AUTOSOMAL RECESSIVE 104, HAMAMY SYNDROME, ATAXIA-OCULOMOTOR APRAXIA 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DEAFNESS, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY, COMMON VARIABLE, 3, DENT DISEASE 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, SUPRANUCLEAR PALSY, PROGRESSIVE, RETINITIS PIGMENTOSA-40, DEAFNESS, AUTOSOMAL DOMINANT 4A, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BEHR SYNDROME, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, DIAMOND-BLACKFAN ANEMIA 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, CILIARY DYSKINESIA, PRIMARY, 30, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, IMMUNODEFICIENCY 38, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, GLUTARICACIDURIA, TYPE I, KERATOSIS PALMOPLANTARIS STRIATA I, AD, ACRODERMATITIS ENTEROPATHICA, DEAFNESS, AUTOSOMAL DOMINANT 15, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, DANON DISEASE, CORNELIA DE LANGE SYNDROME 5, BRACHIOOTIC SYNDROME 3, CEROID LIPOFUSCINOSIS, NEURONAL, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), ?REYNOLDS SYNDROME, ?STEEL SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, FILIPPI SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, NEMALINE MYOPATHY 6, AUTOSOMAL DOMINANT, GAUCHER DISEASE, TYPE IIIC, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, INSOMNIA, FATAL FAMILIAL, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, MICROPHTHALMIA, SYNDROMIC 2, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, ICHTHYOSIS, X-LINKED, LARSEN SYNDROME, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, ALKAPTONURIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 31, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ?OPTIC ATROPHY 9, ENCEPHALOPATHY, NEONATAL SEVERE, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FRANK-TER HAAR SYNDROME, ?CATARACT 41, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), BORJESON-FORSSMAN-LEHMANN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CARPENTER SYNDROME, HAY-WELLS SYNDROME, ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, AMELOGENESIS IMPERFECTA, TYPE IIA3, LONG QT SYNDROME 1, LISSENCEPHALY 6, WITH MICROCEPHALY, LYSYL HYDROXYLASE 3 DEFICIENCY, CATARACT 39, MULTIPLE TYPES, AUTOSOMAL DOMINANT, PARAGANGLIOMAS 3, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, RETINITIS PIGMENTOSA 59, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, NEURODEGENERATION WITH BRAIN IRON ACCULULATION 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, GLYCOGEN STORAGE DISEASE IA, NANCE-HORAN SYNDROME, ?WEBB-DATTANI SYNDROME, WAARDENBURG SYNDROME, TYPE 4A, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, WIEDEMANN-STEINER SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SCHNECKENBECKEN DYSPLASIA, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, CAVITARY OPTIC DISC ANOMALIES, 3-METHYLGLUTACONIC ACIDURIA, TYPE III, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS, RETINITIS PIGMENTOSA 72, NORRIE DISEASE, BARTH SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 16, IMAGE SYNDROME, CHERUBISM, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, DESBUQUOIS DYSPLASIA 1, DYSTONIA 24, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, CRANIOSYNOSTOSIS, TYPE 2, KANZAKI DISEASE, MARSHALL-SMITH SYNDROME, MACULAR DYSTROPHY, VITELLIFORM, 3, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, CORTICAL MALFORMATIONS, OCCIPITAL, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, KARTAGENER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), AMELOGENESIS IMPERFECTA, TYPE IH, ?DEAFNESS, AUTOSOMAL RECESSIVE 66, HOLOPROSENCEPHALY-5, 2-METHYLBUTYRYLGLYCINURIA, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, FANCONI ANEMIA, COMPLEMENTATION GROUP P, CILIARY DYSKINESIA, PRIMARY, 21, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, CONE-ROD DYSTROPHY, X-LINKED, 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10, NIJMEGEN BREAKAGE SYNDROME, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, CHORIODAL DYSTROPHY, CENTRAL AREOLAR 2, ARTHROGRYPOSIS, DISTAL, TYPE 8, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, MEIER-GORLIN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 25, PERRAULT SYNDROME 4, ANAUXETIC DYSPLASIA, PYCNODYSOSTOSIS, ?COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, CATARACT 1, MULTIPLE TYPES, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, MENTAL RETARDATION, X-LINKED 12/35, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SHPRINTZEN-GOLDBERG SYNDROME, OROFACIODIGITAL SYNDROME IV, RAINE SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CILIARY DYSKINESIA, PRIMARY, 33, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, JOUBERT SYNDROME 6, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, DEAFNESS, AUTOSOMAL RECESSIVE 59, ?ABRUZZO-ERICKSON SYNDROME, MULIBREY NANISM, RETINITIS PIGMENTOSA 69, NOONAN SYNDROME 9, MULTIPLE SYNOSTOSES SYNDROME 2, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, TOOTH AGENESIS, SELECTIVE, 7, NYSTAGMUS 1, CONGENITAL, X-LINKED, NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, TARSAL-CARPAL COALITION SYNDROME, FRAXE, LEUKODYSTROPHY, HYPOMYELINATING, 2, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS, CORNEAL DYSTROPHY, AVELLINO TYPE, MUCOLIPIDOSIS IV, SYMPHALANGISM, PROXIMAL, 1A, WHITE-SUTTON SYNDROME, HEIMLER SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, NOONAN SYNDROME 8, MEDNIK SYNDROME, CHAR SYNDROME, RETINITIS PIGMENTOSA 37, TRICHOHEPATOENTERIC SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, PEROXISOME BIOGENESIS DISORDER 3B, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, FRUCTOSE INTOLERANCE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, PRIMARY LATERAL SCLEROSIS, JUVENILE, BRITTLE CORNEA SYNDROME 2, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, GIANT AXONAL NEUROPATHY-1, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, OSTEOGENESIS IMPERFECTA, TYPE VII, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ELLIS-VAN CREVELD SYNDROME, NEU-LAXOVA SYNDROME 1, OCULOAURICULAR SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, KRABBE DISEASE, MENTAL RETARDATION, X-LINKED 19, BRANCHIOOTIC SYNDROME 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MELEDA DISEASE, OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, GRACILE BONE DYSPLASIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, ESCOBAR SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 9, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, ADAMS-OLIVER SYNDROME 4, ?OLMSTED SYNDROME, X-LINKED, RETT SYNDROME, CONGENITAL VARIANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, MACROCEPHALY/AUTISM SYNDROME, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, ?CANDIDIASIS, FAMILIAL, 8, SENIOR-LOKEN SYNDROME 9, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ACHROMATOPSIA-3, GAUCHER DISEASE, TYPE III, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, WARBURG MICRO SYNDROME 3, BASAL CELL NEVUS SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, GLASS SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 10, JOUBERT SYNDROME 25, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, 3-M SYNDROME 3, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), FANCONI ANEMIA, COMPLEMENTATION GROUP E, WARBURG MICRO SYNDROME 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, TREACHER COLLINS SYNDROME 1, ?BARDET-BIEDL SYNDROME 19, EPISODIC ATAXIA/MYOKYMIA SYNDROME, LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 4}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, GLUTAMINE DEFICIENCY, CONGENITAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CEROID LIPOFUSCINOSIS, NEURONAL, 5, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, FILS SYNDROME, SPINOCEREBELLAR ATAXIA 21, NORUM DISEASE, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, OPITZ GBBB SYNDROME, TYPE I, RETINITIS PIGMENTOSA 38, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, OPTIC ATROPHY 1, PARKINSON DISEASE 1, ?MENTAL RETARDATION, X-LINKED 100, TRANSCOBALAMIN II DEFICIENCY, AGNATHIA-OTOCEPHALY COMPLEX, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, TEMPLE-BARAITSER SYNDROME, EXUDATIVE VITREORETINOPATHY 5, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, PONTOCEREBELLAR HYPOPLASIA TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34, EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1F, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 13, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SCHAAF-YANG SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, DEAFNESS AND MYOPIA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CATARACT 12, MULTIPLE TYPES, AL-RAQAD SYNDROME, DENTIN DYSPLASIA, TYPE II, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, RETINITIS PIGMENTOSA 74, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, DEAFNESS, AUTOSOMAL RECESSIVE 67, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?JOUBERT SYNDROME 26, ?PERIVENTRICULAR NODULAR HETEROTOPIA 6, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, LEBER CONGENITAL AMAUROSIS 16, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1D, AUTOSOMAL RECESSIVE, USHER SYNDROME, TYPE 2D, ?CHARGE SYNDROME, CHARGE SYNDROME, ODONTOONYCHODERMAL DYSPLASIA, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ALPORT SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PACHYONYCHIA CONGENITA 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, ?SECKEL SYNDROME 8, AMINOACYLASE 1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 6B, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, D-2-HYDROXYGLUTARIC ACIDURIA, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, OROFACIODIGITAL SYNDROME I, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, ACROMICRIC DYSPLASIA, BRITTLE CORNEA SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, CATARACT 2, MULTIPLE TYPES, SPINOCEREBELLAR ATAXIA 12, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, FARBER LIPOGRANULOMATOSIS, PARAGANGLIOMAS 4, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, APERT SYNDROME, CATARACT 44, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RETINITIS PIGMENTOSA 41, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, RETINITIS PIGMENTOSA 71, IMMUNODEFICIENCY 9, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, JERVELL AND LANGE-NIELSEN SYNDROME 1, ALSTROM SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ?OROFACIODIGITAL SYNDROME XIV, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 20, ?DEAFNESS, AUTOSOMAL DOMINANT 4B, ?IMMUNODEFICIENCY 37, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, ZIMMERMANN-LABAND SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, ?ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE, STICKLER SYNDROME, TYPE I, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, BARDET-BIEDL SYNDROME 3, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, SPINOCEREBELLAR ATAXIA 28, KABUKI SYNDROME 2, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, PROGRESSIVE MYOCLONUS EPILEPSY WITH ATAXIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, CEROID LIPOFUSCINOSIS, NEURONAL, 8, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, LEBER OPTIC ATROPHY AND DYSTONIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BIRT-HOGG-DUBE SYNDROME, BARDET-BIEDL SYNDROME 8, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PERRAULT SYNDROME 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, MUCKLE-WELLS SYNDROME, AURAL ATRESIA, CONGENITAL, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, OPTIC ATROPHY 3 WITH CATARACT, OGUCHI DISEASE-1, PITT-HOPKINS-LIKE SYNDROME 2, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, CHOREOACANTHOCYTOSIS, ACHROMATOPSIA 6, RETINAL CONE DYSTROPHY 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, THYROID DYSHORMONOGENESIS 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, WEAVER SYNDROME, PACHYONYCHIA CONGENITA 2, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, STICKLER SYNDROME, TYPE II, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 3, SED CONGENITA, JAWAD SYNDROME, MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS, BEAULIEU-BOYCOTT-INNES SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 76, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, CILIARY DYSKINESIA, PRIMARY, 27, LATHOSTEROLOSIS, EXUDATIVE VITREORETINOPATHY 4, BARDET-BIEDL SYNDROME 13, METACHROMATIC LEUKODYSTROPHY, EDICT SYNDROME, VOHWINKEL SYNDROME, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, CRANIOECTODERMAL DYSPLASIA 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LISSENCEPHALY 3, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, ABETALIPOPROTEINEMIA, MYOPATHY, MYOFIBRILLAR, 6, CONE-ROD DYSTROPHY 21, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, KENNY-CAFFEY SYNDROME, TYPE 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, TATTON-BROWN-RAHMAN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 11, MECKEL SYNDROME 5, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, CILIARY DYSKINESIA, PRIMARY, 16, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, GM1-GANGLIOSIDOSIS, TYPE III, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPIA 24, AUTOSOMAL DOMINANT, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, RETINAL CONE DYSTROPHY 4, ATAXIA-OCULOMOTOR APRAXIA 3, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 15, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VERHEIJ SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MANNOSIDOSIS, ALPHA-, TYPES I AND II, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, AICARDI-GOUTIERES SYNDROME 4, ?STICKLER SYNDROME, TYPE V, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, DEAFNESS, AUTOSOMAL DOMINANT 11, JOUBERT SYNDROME 4, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, DYSKERATOSIS CONGENITA, X-LINKED, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, ?UROCANASE DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, MANDIBULOACRAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SPINOCEREBELLAR ATAXIA 27, WARSAW BREAKAGE SYNDROME, RETINITIS PIGMENTOSA 68, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, CRANIOSYNOSTOSIS 4, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, WRINKLY SKIN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 40, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, ?LACRIMAL DUCT DEFECT, KBG SYNDROME, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SPEECH-LANGUAGE DISORDER-1, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CRANIOSYNOSTOSIS 3, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, DERMATOPATHIA PIGMENTOSA RETICULARIS, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JOUBERT SYNDROME 15, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, VIBRATORY URTICARIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, HEIMLER SYNDROME 2, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL, LEBER CONGENITAL AMAUROSIS 17, WAARDENBURG SYNDROME, TYPE 4C, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, JOUBERT SYNDROME 24, DEAFNESS, AUTOSOMAL RECESSIVE 22, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 2B, TREMOR, HEREDITARY ESSENTIAL, 5, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ENDOCRINE-CEREBROOSTEODYSPLASIA, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), WOOLLY HAIR, AUTOSOMAL RECESSIVE 2 WITH OR WITHOUT HYPOTRICHOSIS, HYPOTRICHOSIS 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, WARBURG MICRO SYNDROME 4, NEPHRONOPHTHISIS 18, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION, SPINOCEREBELLAR ATAXIA 23, HYPOTRICHOSIS 12, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WOODHOUSE-SAKATI SYNDROME, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, MEIER-GORLIN SYNDROME 2, ?SPINOCEREBELLAR ATAXIA 34, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ADAMS-OLIVER SYNDROME 2, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, MYOPIA 6, MYASTHENIC SYNDROME, CONGENITAL, 16, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, MUCOLIPIDOSIS III ALPHA/BETA, VAN MALDERGEM SYNDROME 2, RETINITIS PIGMENTOSA 20, DEAFNESS, AUTOSOMAL DOMINANT 36, SMITH-MAGENIS SYNDROME, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, DEAFNESS, X-LINKED 5, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, DEAFNESS, AUTOSOMAL RECESSIVE 6, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, TARP SYNDROME, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ECTOPIA LENTIS ET PUPILLAE, OSTEOGENESIS IMPERFECTA, TYPE XVII, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, DEAFNESS, AUTOSOMAL DOMINANT 13, ROIFMAN SYNDROME, UROFACIAL SYNDROME 1, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1E, AUTOSOMAL RECESSIVE, ALBINISM, OCULOCUTANEOUS, TYPE VII, JERVELL AND LANGE-NIELSEN SYNDROME 2, OROFACIODIGITAL SYNDROME V, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, IMMUNODEFICIENCY 20, {OROFACIAL CLEFT 6}, COLE DISEASE, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ?RETINITIS PIGMENTOSA 67, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, ?CATARACT 43, BONE MARROW FAILURE SYNDROME 1, MYOTONIC DYSTROPHY 1, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, SILVER-RUSSELL SYNDROME, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HOLOPROSENCEPHALY-7, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, DEAFNESS, AUTOSOMAL DOMINANT 23, MUCOPOLYSACCHARIDOSIS IS, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, SALLA DISEASE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, ?MICROPHTHALMIA, SYNDROMIC 13, ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ALBINISM, OCULOCUTANEOUS, TYPE III, DUANE-RADIAL RAY SYNDROME, RETINITIS PIGMENTOSA 58, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, DEAFNESS, AUTOSOMAL RECESSIVE 37, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, MITOCHONDRIAL MYOPATHY WITH DIABETES, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, {AUTISM, SUSCEPTIBILITY TO, 18}, ?PERRAULT SYNDROME 2, CENANI-LENZ SYNDACTYLY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, THYROID DYSHORMONOGENESIS 2A, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, ISCHIOCOXOPODOPATELLAR SYNDROME, OMODYSPLASIA 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKOENCEPHALOPATHY WITH ATAXIA, C SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, DIAMOND-BLACKFAN ANEMIA 8, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, VELOCARDIOFACIAL SYNDROME, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, IMMUNODEFICIENCY 19, COFFIN-SIRIS SYNDROME 3, DEAFNESS, AUTOSOMAL RECESSIVE 79, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ACHONDROGENESIS IB, CHIME SYNDROME, MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), VAN DEN ENDE-GUPTA SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PAROXYSMAL NONKINESIGENIC DYSKINESIA, MENTAL RETARDATION, X-LINKED 98, GAUCHER DISEASE, TYPE I, ?OSTEOGENESIS IMPERFECTA, TYPE XII, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?OROFACIAL CLEFT 15, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, EVEN-PLUS SYNDROME, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, CEREBROTENDINOUS XANTHOMATOSIS, MYASTHENIC SYNDROME, CONGENITAL, 5, DEAFNESS, AUTOSOMAL DOMINANT 6/14/38, WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, MECKEL SYNDROME 1, GELEOPHYSIC DYSPLASIA 1, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, KINDLER SYNDROME, ?DEAFNESS, AUTOSOMAL DOMINANT 44, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 57, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPONDYLOPERIPHERAL DYSPLASIA, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, DYSTONIA 25, ALAZAMI SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE, IMMUNODEFICIENCY 23, MICROPHTHALMIA, ISOLATED 8, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, EPSTEIN SYNDROME, MICROPHTHALMIA, SYNDROMIC 14, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, TRABOULSI SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1, HYPOCHONDROPLASIA, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, PENDRED'S SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, HYALINE FIBROMATOSIS SYNDROME, IMMUNODEFICIENCY 42, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CILIARY DYSKINESIA, PRIMARY, 26, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, [SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN], ALBINISM, OCULOCUTANEOUS, TYPE VI, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ?RETINITIS PIGMENTOSA 51, KLIPPEL-FEIL SYNDROME 2, CILIARY DYSKINESIA, PRIMARY, 17, KERATOCONUS 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ?DEAFNESS, AUTOSOMAL RECESSIVE 88, DEAFNESS, AUTOSOMAL DOMINANT 25, NEUROFIBROMATOSIS, TYPE 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, XERODERMA PIGMENTOSUM, GROUP D, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, MYOTONIA CONGENITA, DOMINANT, HERMANSKY-PUDLAK SYNDROME 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, BARDET-BIEDL SYNDROME 10, ANDERSEN SYNDROME, ?EXUDATIVE VITREORETINOPATHY 6, USHER SYNDROME, TYPE 1B, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39, PEUTZ-JEGHERS SYNDROME, STARGARDT DISEASE 3, BRUCK SYNDROME 1, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, DEAFNESS, AUTOSOMAL DOMINANT 8/12, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, TRICHODONTOOSSEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, KAUFMAN OCULOCEREBROFACIAL SYNDROME, MENTAL RETARDATION, X-LINKED 93, LEBER CONGENITAL AMAUROSIS 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, ?MENTAL RETARDATION, X-LINKED 91, SCALP-EAR-NIPPLE SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RETINITIS PIGMENTOSA 73, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, DIGEORGE SYNDROME, MEVALONIC ACIDURIA, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, COLD-INDUCED SWEATING SYNDROME 2, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, ?HYDROLETHALUS SYNDROME 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, RETINITIS PIGMENTOSA 64, CONE-ROD DYSTROPHY 16, FOVEAL HYPOPLASIA 1, PARKINSONISM-DYSTONIA, INFANTILE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, ?SPINOCEREBELLAR ATAXIA 40, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AURICULOCONDYLAR SYNDROME 2, LIMB-MAMMARY SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ACROCAPITOFEMORAL DYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ?SECKEL SYNDROME 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, OSTEOGENESIS IMPERFECTA, TYPE I, CRANIOECTODERMAL DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, TOOTH AGENESIS, SELECTIVE, 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, COHEN SYNDROME, OCULOECTODERMAL SYNDROME, RETINITIS PIGMENTOSA 56, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, BANNAYAN-RILEY-RUVALCABA SYNDROME, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, MACULAR DYSTROPHY, VITELLIFORM, 5, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1B, AUTOSOMAL RECESSIVE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, DEAFNESS , AUTOSOMAL RECESSIVE 86, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, AMELOGENESIS IMPERFECTA, TYPE IC, DEAFNESS, AUTOSOMAL RECESSIVE 70, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, PROUD SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, GALACTOSE EPIMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OROFACIAL CLEFT 7, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36, PHYTANIC ACID STORAGE DISEASE, BARDET-BIEDL SYNDROME 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BARTTER SYNDROME, TYPE 3, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?MECKEL SYNDROME 8, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, [C3HEX, ABILITY TO SMELL], PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50, HERMANSKY-PUDLAK SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MOHR-TRANEBJAERG SYNDROME, EXUDATIVE VITREORETINOPATHY 2, X-LINKED, KEPPEN-LUBINSKY SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ?FACIAL CLEFTING, OBLIQUE, 1, CILIARY DYSKINESIA, PRIMARY, 19, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, STAR SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SPINOCEREBELLAR ATAXIA 5, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), EMBERGER SYNDROME, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, SPINOCEREBELLAR ATAXIA 7, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, ?RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES, CEREBROOCULOFACIOSKELETAL SYNDROME 4, 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, DYSTONIA 6, TORSION, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CATARACT 18, AUTOSOMAL RECESSIVE, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, JOUBERT SYNDROME 17, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, EPISODIC ATAXIA, TYPE 2, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, STROMME SYNDROME, PETERS-PLUS SYNDROME, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, TRIGONOCEPHALY 1, BARDET-BIEDL SYNDROME 16, SMITH-LEMLI-OPITZ SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, DESMOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, PERRY 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, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, MAST SYNDROME, SPINOCEREBELLAR ATAXIA 36, AMELOGENESIS IMPERFECTA, TYPE IA, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, URBACH-WIETHE DISEASE, COWCHOCK SYNDROME, WHITE SPONGE NEVUS 2, ?CATARACT 42, DEAFNESS, AUTOSOMAL RECESSIVE 36, TRIFUNCTIONAL PROTEIN DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CILIARY DYSKINESIA, PRIMARY, 24, ALTERNATING HEMIPLEGIA OF CHILDHOOD, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, HOLOPROSENCEPHALY-2, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45, CILIARY DYSKINESIA, PRIMARY, 32, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE V, KEUTEL SYNDROME, SENIOR-LOKEN SYNDROME 4, SPINOCEREBELLAR ATAXIA 6, COUSIN SYNDROME, GALACTOSIALIDOSIS, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, CILIARY DYSKINESIA, PRIMARY, 20, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, OSTEOGLOPHONIC DYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 2A, NIEMANN-PICK DISEASE, TYPE A, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, ?BARDET-BIEDL SYNDROME 18, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, CHANARIN-DORFMAN SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, L-2-HYDROXYGLUTARIC ACIDURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, OSTEOGENESIS IMPERFECTA, TYPE XIII, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SPASTIC PARAPLEGIA 2, X-LINKED, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 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, PERRAULT SYNDROME 5, CHILD SYNDROME, DARIER DISEASE, JOUBERT SYNDROME 7, PCWH SYNDROME, BARDET-BIEDL SYNDROME 4, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, COLD-INDUCED SWEATING SYNDROME 1, AGAMMAGLOBULINEMIA 6, WAGNER SYNDROME 1, ?RETINITIS PIGMENTOSA 9, PARIETAL FORAMINA 1, RITSCHER-SCHINZEL SYNDROME 1, USHER SYNDROME, TYPE 3A, WILSON-TURNER SYNDROME, THYROID DYSHORMONOGENESIS 4, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ALEXANDER DISEASE, CATARACT 21, MULTIPLE TYPES, HEMOCHROMATOSIS, TYPE 4, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, TREACHER COLLINS SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, ?RETINITIS PIGMENTOSA 23, JOUBERT SYNDROME 18, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MENTAL RETARDATION, X-LINKED 90, NANOPHTHALMOS 4, CILIARY DYSKINESIA, PRIMARY, 2, DIAMOND-BLACKFAN ANEMIA 7, CONE DYSTROPHY 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, TEMTAMY SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, AMELOGENESIS IMPERFECTA, TYPE III, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 9, AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, OTOPALATODIGITAL SYNDROME, TYPE II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, JOUBERT SYNDROME 9, DEAFNESS, AUTOSOMAL DOMINANT 5, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, COLE-CARPENTER SYNDROME 2, DEAFNESS, AUTOSOMAL DOMINANT 48, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, CANDIDIASIS, FAMILIAL, 9, {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}, MOLYBDENUM COFACTOR DEFICIENCY A, AMELOGENESIS IMPERFECTA, TYPE 1E, MACULAR DYSTROPHY, NORTH CAROLINA TYPE, PERIODONTITIS 1, JUVENILE, BOUCHER-NEUHAUSER SYNDROME, CONE-ROD DYSTROPHY 11, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, ?RETINAL ARTERIES, TORTUOSITY OF, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, OGDEN SYNDROME, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, ATAXIA-TELANGIECTASIA-LIKE DISORDER, HAIM-MUNK SYNDROME, NATIVE AMERICAN MYOPATHY, MACULAR DYSTROPHY, RETINAL, 2, ADAMS-OLIVER SYNDROME 5, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, HELSMOORTEL-VAN DER AA SYNDROME, MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, SECKEL SYNDROME 1, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, ?MARDEN-WALKER SYNDROME, FEINGOLD SYNDROME 2, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, DEAFNESS, AUTOSOMAL DOMINANT 9, PEROXISOME BIOGENESIS DISORDER 14B, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HARTNUP DISORDER, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?RETINAL DYSTROPHY AND OBESITY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], CATARACT 38, AUTOSOMAL RECESSIVE, NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME, ARTS SYNDROME, GM2-GANGLIOSIDOSIS, AB VARIANT, HOLOPROSENCEPHALY-9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WEILL-MARCHESANI-LIKE SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ANGIOEDEMA, HEREDITARY, TYPE III, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, LIANG DISTAL MYOPATHY, ?N-ACETYLASPARTATE DEFICIENCY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, LEUKODYSTROPHY, HYPOMYELINATING, 6, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1A, X-LINKED, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, BARTTER SYNDROME, TYPE 4B, DIGENIC, BARDET-BIEDL SYNDROME 17, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CILIARY DYSKINESIA, PRIMARY, 18, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, GABA-TRANSAMINASE DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, DEAFNESS, X-LINKED 2, MUSCULAR DYSTROPHY, RIGID SPINE, 1, MACULAR DYSTROPHY, VITELLIFORM, 4, COENZYME Q10 DEFICIENCY, PRIMARY, 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, DYSTONIA-PARKINSONISM, X-LINKED, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, DEAFNESS, AUTOSOMAL RECESSIVE 39, THYROID DYSHORMONOGENESIS 5, IMMUNODEFICIENCY, COMMON VARIABLE, 4, CARTILAGE-HAIR HYPOPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XV, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CATARACT 9, MULTIPLE TYPES, PARIETAL FORAMINA 2, DYGGVE-MELCHIOR-CLAUSEN DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, PONTOCEREBELLAR HYPOPLASIA TYPE 2A, HYPOMYELINATION, GLOBAL CEREBRAL, TENORIO SYNDROME, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, BRACHYOLMIA TYPE 3, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, AMELOGENESIS IMPERFECTA, TYPE IF, ATELOSTEOGENESIS, TYPE I, SENIOR-LOKEN SYNDROME 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MECKEL SYNDROME 2, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, WAARDENBURG SYNDROME, TYPE 2D, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), POLYMORPHOUS CORNEAL DYSTROPHY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, WIEACKER-WOLFF SYNDROME, MUCOLIPIDOSIS II ALPHA/BETA, ?DEAFNESS, X-LINKED 6, CORNEAL DYSTROPHY, CONGENITAL STROMAL, 3MC SYNDROME 2, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4, MEIER-GORLIN SYNDROME 5, ?CRANIOECTODERMAL DYSPLASIA 4, GRISCELLI SYNDROME, TYPE 3, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ARTHROGRYPOSIS, DISTAL, TYPE 5D, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, MYOPATHY, SPHEROID BODY, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, PARKINSON DISEASE 20, EARLY-ONSET, CATARACT 22, AUTOSOMAL RECESSIVE, DEAFNESS, AUTOSOMAL RECESSIVE 63, FOLATE MALABSORPTION, HEREDITARY, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, PANCREATIC AND CEREBELLAR AGENESIS, TOOTH AGENESIS, SELECTIVE, 4, AICARDI-GOUTIERES SYNDROME 2, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, CHOANAL ATRESIA AND LYMPHEDEMA, KENNY-CAFFEY SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, NIEMANN-PICK DISEASE, TYPE C2, OSTEOLYSIS, FAMILIAL EXPANSILE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, OROFACIODIGITAL SYNDROME VI, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A, DYSTONIA 9, CYSTINOSIS, OCULAR NONNEPHROPATHIC, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, TROYER SYNDROME, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, SADDAN, RIDDLE SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, OPTIC ATROPHY PLUS SYNDROME, CLEFT PALATE, ISOLATED, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, SPINOCEREBELLAR ATAXIA 31, MEIER-GORLIN SYNDROME 3, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, MECKEL SYNDROME 3, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, LUSCAN-LUMISH SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 64, DESBUQUOIS DYSPLASIA 2, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, CILIARY DYSKINESIA, PRIMARY, 28, AMELOGENESIS IMPERFECTA, TYPE IIA4, BIOTINIDASE DEFICIENCY, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, CHOPS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTRICHOSIS 8, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MACULAR DEGENERATION, X-LINKED ATROPHIC, POLYGLUCOSAN BODY DISEASE, ADULT FORM, SIALIC ACID STORAGE DISORDER, INFANTILE, MUCOPOLYSACCHARIDOSIS, MPS-III-A, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8, OLIGODONTIA-COLORECTAL CANCER SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, RETINITIS PIGMENTOSA 7 AND DIGENIC, RETINITIS PIGMENTOSA 7, DIGENIC, LEBER CONGENITAL AMAUROSIS 18, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, DEAFNESS, AUTOSOMAL RECESSIVE 53, MENTAL RETARDATION, X-LINKED 46, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, JOUBERT SYNDROME 20, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, EXUDATIVE VITREORETINOPATHY 1, VAN DER WOUDE SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 4, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT, REVESZ SYNDROME, MEESMANN CORNEAL DYSTROPHY, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, POPLITEAL PTERYGIUM SYNDROME 1, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 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, MICROPHTHALMIA, ISOLATED 5, PARKINSON DISEASE 19, JUVENILE-ONSET, AGAMMAGLOBULINEMIA 2, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), PORETTI-BOLTSHAUSER SYNDROME, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, DEJERINE-SOTTAS DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, DEAFNESS, AUTOSOMAL RECESSIVE 74, MYOPATHY, DISTAL, TATEYAMA TYPE, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ?MICROPHTHALMIA, SYNDROMIC 11, DEAFNESS, AUTOSOMAL RECESSIVE 68, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, JOHANSON-BLIZZARD SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, ?MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, PAROXYSMAL EXTREME PAIN DISORDER, USHER SYNDROME, TYPE 1G, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, USHER SYNDROME TYPE 3B, CAPOS SYNDROME, RETINAL CONE DYSTROPHY 3B, DEAFNESS, AUTOSOMAL RECESSIVE 18B, ?THROMBOXANE SYNTHASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, DIAMOND-BLACKFAN ANEMIA 6, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, LEUKODYSTROPHY, HYPOMYELINATING, 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, SCLEROSTEOSIS 2, HYPOPHOSPHATEMIC RICKETS, AR, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, AXENFELD-RIEGER SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL RECESSIVE 42, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, MACULAR DYSTROPHY, PATTERNED, 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, RETINITIS PIGMENTOSA 27, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, MECKEL SYNDROME 6, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, WOLFRAM SYNDROME 2, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, MILLER SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 29, VITAMIN D-DEPENDENT RICKETS, TYPE I, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, COFFIN-SIRIS SYNDROME 4, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, ?LAURENCE-MOON SYNDROME, PAGET DISEASE OF BONE 6, COENZYME Q10 DEFICIENCY, PRIMARY, 5, DEAFNESS, AUTOSOMAL RECESSIVE 35, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, JOUBERT SYNDROME 14, VICI SYNDROME, COFFIN-SIRIS SYNDROME 2, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, NIEMANN-PICK DISEASE, TYPE B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, CORNELIA DE LANGE SYNDROME 1, FISH-EYE DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, DIAMOND-BLACKFAN ANEMIA 10, PELIZAEUS-MERZBACHER DISEASE, TYLOSIS WITH ESOPHAGEAL CANCER, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, LOEYS-DIETZ SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 21, CANAVAN DISEASE, SMITH-MCCORT DYSPLASIA 2, NEPHRONOPHTHISIS 15, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, FACTOR VII DEFICIENCY, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, SMED STRUDWICK TYPE, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, FOVEAL HYPOPLASIA 2, WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, ISOLATED 6, MYOCLONUS, FAMILIAL CORTICAL, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE, HYPOTRICHOSIS 11, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?RETINITIS PIGMENTOSA 66, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, ARTERIAL TORTUOSITY SYNDROME, SORSBY FUNDUS DYSTROPHY, ?JOUBERT SYNDROME 22, ?MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE, MICROCEPHALY, AMISH TYPE, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, GAUCHER DISEASE, PERINATAL LETHAL, CILIARY DYSKINESIA, PRIMARY, 23, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, ACHROMATOPSIA 7, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, NEMALINE MYOPATHY 9, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, MANNOSIDOSIS, BETA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MICROPHTHALMIA WITH COLOBOMA 5, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, CEREBROCOSTOMANDIBULAR SYNDROME, MUCOLIPIDOSIS III GAMMA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, MYOPATHY, MYOFIBRILLAR, 2, MYOPATHY, TUBULAR AGGREGATE, 1, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CODAS SYNDROME, USHER SYNDROME, TYPE IJ, SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE, DEAFNESS, X-LINKED 4, DESANTO-SHINAWI SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, AGAMMAGLOBULINEMIA, X-LINKED 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BURN-MCKEOWN SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 23, CORNEAL OPACIFICATION AND OTHER OCULAR ANOMALIES, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, PITYRIASIS RUBRA PILARIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, SULFITE OXIDASE DEFICIENCY, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, HYPERFERRITINEMIA-CATARACT SYNDROME, LUJAN-FRYNS SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, CATSHL SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, BLEEDING DISORDER, PLATELET-TYPE, 15, NEU-LAXOVA SYNDROME 2, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, JACKSON-WEISS SYNDROME, MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, VITREORETINOCHOROIDOPATHY, TIETZ ALBINISM-DEAFNESS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, KOOLEN-DE VRIES SYNDROME, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, LEUKODYSTROPHY, HYPOMYELINATING, 13, WAARDENBURG SYNDROME, TYPE 3, USHER SYNDROME, TYPE 1F, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, SOTOS SYNDROME 2, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, SCHOPF-SCHULZ-PASSARGE SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ETHYLMALONIC ENCEPHALOPATHY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ?OTOFACIOCERVICAL SYNDROME 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SENIOR-LOKEN SYNDROME-1, LEBER CONGENITAL AMAUROSIS 13, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PSORIASIS 14, PUSTULAR, SECKEL SYNDROME 5, AICARDI-GOUTIERES SYNDROME 3, KNIEST DYSPLASIA, MENTAL RETARDATION, X-LINKED 21/34, HERMANSKY-PUDLAK SYNDROME 9, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, THYROID DYSHORMONOGENESIS 3, PERLMAN SYNDROME, OPTIC ATROPHY 7, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, SECKEL SYNDROME 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYOPIA 22, AUTOSOMAL DOMINANT, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, CONE-ROD DYSTROPHY 10, KABUKI SYNDROME 1, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 30, HYPOPHOSPHATASIA, CHILDHOOD, RETINITIS PIGMENTOSA 42, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, PAGET DISEASE OF BONE 3, DEAFNESS, AUTOSOMAL RECESSIVE 84A, DEAFNESS, AUTOSOMAL RECESSIVE 93, LERI-WEILL DYSCHONDROSTEOSIS, DEAFNESS, AUTOSOMAL RECESSIVE 84B, CRANIOSYNOSTOSIS 6, MECKEL SYNDROME 4, MYOTONIC DYSTROPHY 2, BARDET-BIEDL SYNDROME 9, CILIARY DYSKINESIA, PRIMARY, 22, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ?MENTAL RETARDATION, X-LINKED 101, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: LSS, TCF12, TSC2, IHH, EDNRA, VARS2, GPT2, CD3E, GP1BA, TBX22, RPL5, FTL, PRIMPOL, ENPP1, POLD1, ADAMTS18, LRRK2, ALG3, SEMA4A, UNC45B, TRIP4, CHD8, EGR2, PTRH2, SLC6A8, GAS8, FREM1, COG6, VCAN, AMBN, OCRL, DNAI2, VAX1, CYP7B1, SLC16A12, MYO18B, RPS24, CLRN1, LRIT3, RPS7, APOA1, CD79A, SPINT2, DAG1, TPP1, FGF17, SCP2, NR1I3, SPARC, C1QTNF5, AP1S2, C2CD3, ITPR1, GALNT3, DDHD1, RPS10, GUSB, LARS2, LOXHD1, MLPH, CP, RMRP, ALDOA, PRKRA, DDR2, PRPS1, BBS5, IGLL1, RAB3GAP2, DVL3, PDYN, MMP20, CEP290, NDUFAF2, FOXC1, CTDP1, PNPLA6, NDUFS7, SLC40A1, HES7, SSR4, PI4KA, WDR62, TANGO2, RHBDF2, IMPG2, CNGB1, KIF11, IL1B, HOXA11, EFNB1, FAR1, XRCC4, TRIOBP, ADK, IFT122, PARK7, RSPO1, CUL4B, GNAQ, HINT1, HNRNPK, LAMC2, NPHP1, PCDH15, PDE4D, RPL21, IFT27, TENM3, P2RY12, CCDC65, FOXRED1, TFAP2B, SCARF2, COL4A3, FCGR3A, NLRP5, FH, GRIN2B, MICU1, FOXE3, FANCL, EGFR, ATXN3, ATP7A, POLR3B, KRT14, IQSEC2, TSC1, SOS2, NDUFS2, CCBE1, CTNNA1, PEX14, FAM58A, IRX5, TRAIP, LRRC6, NAA10, SBF2, CRYBB3, RAI1, DGUOK, KIF2A, THAP1, COX6A1, TSR2, MTAP, MYOC, IDUA, BBS1, FEZF1, DNAH8, ROBO3, NBN, PCNT, PRF1, RRM2B, USH1C, IGF1, PET100, RBCK1, CYB5R3, SLC33A1, SHOC2, TNNT3, ALDOB, CREBBP, SLC17A8, ANO5, MYCN, ADAMTSL2, FGFR1, HGD, FZD4, POC1A, FASTKD2, EXOSC8, WWOX, BBS2, KAT6B, GDNF, STAC3, SLC6A19, PRICKLE1, GIPC3, ARID1B, STAT3, CRYBA2, KAT6A, FBXO31, BBS12, COL18A1, ALPL, NDUFB3, DNAJB6, UBR1, SC5D, GRXCR2, NIN, ANKH, CCDC8, DHTKD1, ATXN1, KARS, CISD2, SOX18, GLI2, FREM2, ATP13A2, ARHGAP11A, ITGA6, MT-ND3, UQCC2, DYRK1A, AIMP1, TBCK, ZC4H2, ASCL1, SDHA, NTRK1, HYLS1, MFSD2A, IDS, SPTLC1, IFT43, CACNA1C, COL6A3, ETFA, CCDC174, MT-TQ, ITM2B, PCSK9, DUOXA2, CHRNB1, TUFM, PMPCA, EMC1, ADGRE2, DDX59, F2, LAMA1, CEP120, MED13L, STT3B, ADSL, SERPINB6, IKBKG, NRXN1, NDUFA1, KRT25, VPS53, MTHFR, DNAAF3, BSND, ESPN, CDH1, CLDN1, VPS13B, ECE1, STK11, FMR1, NDRG1, TTC19, PDP1, PNPLA2, ATP2B3, NOP56, PIK3CA, BMPER, ST14, MIR17HG, MYH2, BMS1, ACTA1, GJA3, PABPN1, GRIP1, SMARCA4, FAM177A1, NDUFAF6, FAM134B, ARMC4, IGF2, CLUAP1, HMX1, CCND1, SYT14, SH3BP2, NSD1, HEXA, KDM5C, CRLF1, EBP, TALDO1, GLIS3, DPYD, ZNF644, TSHB, CENPJ, ALG6, SPEG, COX14, PANK2, ACVR1, TBX1, CDON, PGAP2, TPO, CALM2, DDX3X, SGCE, KIAA0586, PAX2, ZNF469, NAT8L, OTX2, SLC9A6, KATNB1, ITGB2, CNNM2, FHL1, IARS2, FOXC2, FBN1, PEX19, PPP2R5D, COL27A1, EIF2B2, DNAAF5, CA8, STXBP1, FGFR3, POLG2, SOX10, NRAS, THOC2, DSPP, PDSS2, PRICKLE2, ADAT3, SPECC1L, DPM1, RFT1, TNFAIP3, PRPF4, AP3B1, TAF6, KIF22, ERCC4, UPK3A, TCF4, PEPD, PGAP3, ABHD12, PDE10A, WDR19, SP110, DARS, DLAT, VAMP1, EDNRB, COQ6, MTR, AGPAT2, PSPH, SLC25A12, ATXN7, NDUFS8, CD96, HMCN1, ACOX1, ZBTB24, SRD5A3, NDUFA11, GDF6, ERCC1, COL9A2, AGTR1, PHYH, GAN, DSG1, PGK1, PAX1, MARVELD2, OTOG, AARS, SLC24A1, FANCA, SUFU, ALG2, SCN8A, ROM1, ERCC2, CCDC50, COL13A1, RSPH1, NDUFA12, OPA3, NDUFB9, CNTNAP1, ATP6V0A2, TGDS, WNT7A, CHD7, MEOX1, SETD5, TP53, RTN4IP1, P3H2, WRN, ETV6, GLUL, DNAL1, LYRM7, LHX3, MECOM, RSPH4A, DHDDS, IFNG, PRX, RAX2, RELN, TGFBR1, EP300, AGBL1, GCDH, CLPB, POMT2, ARL6, BBS9, ABCA5, PCNA, DTNBP1, CACNA2D4, TRAF3IP1, PCK1, CEP83, TCN2, TNFRSF13B, TTR, OSBPL2, TTC21B, SFXN4, MRPS16, SERPINI1, IGFBP7, CLN6, SLC6A1, KRAS, TSPAN12, TNFRSF13C, TAF2, SLC25A4, RNASEH2B, KANK2, RAG1, PSAT1, ARL13B, SLC12A5, CHRM3, GAA, GLE1, YAP1, NGF, CRYGC, HCCS, CEP41, TRAPPC11, PLEKHG2, SPG11, BRF1, SOBP, GRHL2, INSR, STAP1, KIAA0196, SCN9A, ARID1A, SERPINH1, RNASET2, C10orf2, CD3G, GLA, COX4I2, STIL, TACO1, SLX4, FGF20, EXOSC3, WDR45, DNAJC3, MIR96, MBD5, CHKB, DCAF17, MTRR, RP9, SLC5A5, PHGDH, MPDZ, ACADS, MID1, NALCN, SPG21, RBBP8, TRMT10A, UBA1, NSDHL, MYH14, KDM6A, NECTIN4, PTPN14, SLC35D1, APOPT1, LRAT, TRIM32, G6PC, WNK1, ASPM, ENAM, PEX2, KRT3, HPSE2, TECTA, DMP1, EVC, VLDLR, F7, IL1RN, SIK1, AXIN2, MEGF10, KCTD17, KIF21A, THRA, TNNI2, CENPF, MTOR, ASAH1, LEP, OPHN1, PIK3CD, MEGF8, AIFM1, DSP, SMARCE1, AAAS, SGSH, MKKS, STEAP3, HYDIN, SLC24A4, MAG, PSAP, XPNPEP3, C12orf57, DEAF1, SMC3, MT-CO1, CAV3, BANF1, MGME1, CTNNB1, LHFPL5, SMAD4, PIGY, SRP72, IGHM, HDAC6, LRP5, LAMA3, CLCN2, PPP2R1A, TUBB, TCTN1, ARHGEF6, BBS7, RIPK4, INPPL1, AIP, ALX3, UBE3A, TRMU, TGM6, GLI3, RBMX, MT-TH, NOTCH3, LAMP2, SPINK5, TAC3, SMOC2, NLRP1, GPIHBP1, MASP1, HGSNAT, PIGA, PIGL, LAMA2, AP4M1, GATA4, HADHB, MT-CO2, GPSM2, PTPRQ, COL6A1, FTSJ1, FKTN, PTPRC, MMADHC, SALL4, DMXL2, GPX4, RAB40AL, BDNF, RNF113A, CHAT, SOX11, JAM3, HLA-DQB1, RAX, TMEM43, ALB, SDHB, TMC1, TAP2, PLIN1, ARMC5, ARHGDIA, APOB, MMP1, CPT2, SPATA5, MFN2, KIF1C, FERMT3, MOCS2, CHCHD10, B3GLCT, AP4B1, TMEM237, PDE11A, NPC1, HARS2, TMEM231, ADGRG6, WNT10A, KCNA1, ST3GAL5, NDUFB11, NEK8, CDT1, SPRTN, SZT2, DNAI1, SPAST, COL8A2, NR2E3, ZNF408, PXDN, SF3B4, MCOLN1, TGFB2, LRP6, SLC26A2, HOXB1, SLC26A4, AP5Z1, TFAP2A, LOR, PURA, SLC19A3, CTSC, IL11RA, C4orf26, CRIPT, ECM1, MEF2C, C9orf72, POLG, NHS, MSX2, KIF5C, DLX4, CRYAB, ZNF513, PIKFYVE, OTOA, CACNA1A, CCDC28B, L2HGDH, WDPCP, SLC6A17, RB1, ATF6, RAB33B, STIM1, B4GALT7, ITGA8, DNM1, MT-ATP6, ADAR, CBS, GHR, GMPPB, MCPH1, OR2J3, UBE3B, COL4A4, SLC52A2, DRD2, PLP1, VDR, FIBP, PARK2, COQ9, COG4, IKBKB, C8orf37, SKI, MIR204, PRKCG, FARS2, GJB3, NME8, ESRRB, SCYL1, CLCF1, PEX1, C21orf59, MTFMT, JAGN1, PNKD, ITGB4, TYMP, GNAL, KMT2D, VCP, ZFYVE26, SLC52A3, ERMARD, BLM, AIPL1, RBP3, PUS1, NDUFS6, POLR1C, AGA, VPS35, PEX16, STRA6, MSRB3, TIMP3, SMAD3, MTMR14, ALDH18A1, HSPG2, NLRP3, HPGD, SLC38A8, ISCA2, LMNA, CD3D, FSHB, LARGE1, ATRX, CYP27A1, CTSA, RSPH3, RPS26, ATP6V1B2, AGT, SEPT9, PPP1R3A, KDM1A, MAGEL2, FOXI1, NPHP4, RPGRIP1L, WNT5A, MANBA, ALG1, IL21R, BCOR, SEPSECS, PPP1R15B, KCND3, ABCD1, ACSL4, SPAG1, MTO1, PRPH2, PRKAG2, CEP152, PRKACG, TSPEAR, FANCD2, TCOF1, GBE1, UROC1, ICOS, TWIST2, QDPR, NDUFAF4, MRPS22, MID2, NOTCH2, PARN, SLURP1, GATA2, ERCC6, SHANK3, MT-TK, ACTN1, GALT, GFPT1, DCX, PSMB8, DLX5, APTX, POGZ, CNNM4, POLR1D, ICK, TMEM173, ALDH5A1, IMPAD1, CLDN16, RPS6KA3, TFG, RPL26, DNM1L, MOCS1, FAM20C, SETBP1, KIF14, WRAP53, SLC25A19, PITX3, LMX1B, TSFM, CNTN1, VHL, SNRPB, SMARCAL1, CLCN1, SEMA3A, DYM, SMS, METTL23, ALOX12B, DCTN1, COL25A1, ZBTB42, DPM2, TPM3, H19, PTEN, F13A1, PIK3R5, EHMT1, PRDM12, CCNO, FAT4, SAG, NDUFA10, STAMBP, KITLG, IGBP1, SOS1, SLC1A4, C10orf11, GBA, SUCLG1, ACD, STRADA, LIMS2, ILDR1, GUCA1A, TMEM165, HRAS, GPC6, OCLN, NIPAL4, TINF2, NARS2, KIF1BP, MFSD8, IER3IP1, BRCA2, ACP5, TSHZ1, YARS2, SLC1A3, MFRP, TGFBI, COL5A1, NR4A2, TK2, CDKN2A, TENM4, NCF4, TGM1, COX20, NDUFV2, SIX3, AFG3L2, WNT4, AUH, POU1F1, ABHD5, PHOX2A, MATR3, FBXO7, FAM83H, SMARCA2, ZNF592, TUBA1A, FLCN, GP1BB, GAS1, LMNB1, ARSA, PTCH2, HELLS, CANT1, SPG20, LONP1, POMGNT2, HS6ST1, KCNV2, PYCR1, ZNF335, ZIC3, MYH8, TUBG1, LIM2, ADGRV1, PROKR2, MFAP5, SLC39A5, PAX8, VPS33B, QARS, EDN1, PLA2G6, REN, SOX9, MYH3, WDR81, COL4A1, INF2, VWF, KCNQ1OT1, MECP2, PDCD1, ATPAF2, DOK7, DNAJC6, ANKLE2, TG, MAK, BBS10, CLPP, CCND2, EXT2, RMND1, IGF1R, LDLR, PIEZO1, TMEM126A, CYP4V2, AMPD2, TBC1D7, MT-TS1, GATA6, ARSB, ZDHHC15, TBX15, ACVRL1, PNPT1, PAH, HESX1, GUCY2D, NDE1, POLR3A, TUBGCP6, PMP22, PDHA1, SLC34A3, ETFB, PRKACA, CD19, TRPS1, SLCO2A1, ADGRG1, RPGR, PLCG2, DRD5, MPV17, PDGFRA, MT-ND5, DPAGT1, PNP, ACO2, PGM3, DNMT3B, COL4A3BP, MYH11, EDC3, RNF168, SHH, HPS1, PORCN, CORO1A, CA2, RDH5, ORC6, PLOD3, RASGRP2, PIGW, CC2D2A, LBR, TBXA2R, ATP6V1B1, LAMB1, KRIT1, HNRNPDL, SNRPE, SLC6A3, CDC6, PROS1, IL17RD, GALK1, TCTN3, ESCO2, TERT, NYX, PHF8, AGK, TTC8, POR, TGFBR2, P3H1, MAFB, KLK4, UPB1, MYOT, NF2, SCN4A, ALMS1, SLC39A8, SKIV2L, SYNE1, MT-ND6, ALG11, KIAA0556, CBL, KCNJ1, RNASEH2A, GJA8, IMPG1, HSPD1, MT-CYB, ABCD4, FGD1, GAD1, TNNT2, FBXL4, ANKRD11, AHI1, PDE6B, PDE6C, SYT2, OAT, RBM28, LIAS, SCO2, LTBP3, SETD2, CHST14, CEP63, CD40LG, CRTAP, CTSD, COLQ, NUP62, FYCO1, PNKP, DBH, AP4E1, FLVCR1, MMACHC, TAPBP, PPIB, ICR1, SIPA1L3, GCNT2, SH3PXD2B, COX15, KRT17, LRPAP1, UNC119, PEX13, PDE6G, NRL, PEX5, ECHS1, MUSK, XPC, ZMYND11, NLRP12, AHDC1, SDHAF1, MT-ND4, SLC2A1, RAB18, SLC9A1, ZNF423, SLC46A1, DIABLO, ERCC6L2, PIK3R2, PUF60, DCDC2, PDHX, DNAAF1, SPRY4, DYX1C1, ENG, PDSS1, HLA-B, CENPE, HMGB3, BRWD3, KIF7, FKRP, PAK3, CCDC88C, DRAM2, CTCF, POMK, TYR, DHCR24, COX7B, RDH11, P2RX1, FGF10, EXOC8, NOP10, RAB28, B3GALNT2, MITF, GJB6, TREX1, LRP4, ORC4, TH, POMT1, SEMA3E, SNX10, ZIC1, PNPO, ACY1, KMT2A, LIPH, SLC25A1, SPTAN1, PODXL, MT-CO3, POLE, DHS6S1, S1PR2, GFI1B, CACNB4, DLL4, CD79B, CLCN7, CLP1, SLC4A4, TUB, DCPS, BFSP2, FOXL2, SERPINA1, NDUFAF1, HOMER2, CABP4, PPT1, TTC37, SACS, AMACR, SCARB2, SNIP1, CFL2, GTPBP3, KCNE1, HDAC8, KMT2C, EARS2, RIT1, ADAMTS10, RBM10, KLC2, EDN3, LCAT, TCIRG1, RLBP1, ANO10, PPP1R17, FGF23, LAMTOR2, BOLA3, FGF5, BRAF, SNAP25, PIGV, GNPTG, UBE2A, BLNK, RSPRY1, TMEM70, KRT5, SLC7A14, GNS, F12, SNRPN, CYP27B1, ARL2BP, EEF2, NFKB2, ALDH3A2, KCNJ5, B4GALNT1, MT-TS2, TNFRSF11B, SOX2, NAGLU, PEX3, FAM111B, CNGA3, ITPA, SLC16A2, ADRA2B, TCTN2, SMC1A, LMNB2, ATP2B2, SEC24D, PGAP1, CNGB3, KCNH1, MAF, KANSL1, TUBB4A, DYNC1H1, USH2A, SHOXY, AR, CHRNE, SLC12A6, ACTG1, ASXL1, KCNJ10, RORC, ABCB6, CYP1B1, DVL1, PCLO, PEX7, SERAC1, NIPBL, ZSWIM6, IL6, DCN, COLEC11, HCFC1, APC, DHFR, ASPA, SMOC1, MGP, PTPRF, CCDC151, RDH12, POU4F3, CAMTA1, CRYGB, CLIC2, TNFRSF1A, SASS6, PRPF31, IFIH1, FUCA1, SQSTM1, RNASEH2C, PEX6, CARS2, PMM2, GCK, GNAI3, MGAT2, CDK5, BEST1, ZEB2, SLC24A5, NEB, CCDC115, PRPF8, FGF3, PDE6D, COL1A1, LTBP4, JAG1, CRYM, ECEL1, GRID2, COL2A1, BAP1, NUBPL, RIN2, SYNE4, RUNX1, STT3A, ELN, LZTR1, PGM1, TACSTD2, KRT85, MAPT, POU3F4, CHM, AP4S1, ATXN10, MOGS, MSMO1, HADHA, PLOD1, NFKBIA, RPS17, DSE, ERCC5, DHODH, SAMHD1, NDUFA9, RBP4, CTC1, GP6, DKC1, IFT140, ALX4, ABCC8, DDHD2, WHRN, SDHD, FRMD4A, HLA-DRB1, SLITRK6, CARD14, BBS4, BCS1L, RAPSN, LTBP2, PLK4, HIBCH, PHC1, SAMD9, SETX, ITPR2, COQ2, SALL2, KCTD1, PRSS23, MT-ND1, DNA2, LAMC3, ISG15, EOGT, ACADSB, VSX1, MTTP, AMER1, CHRND, GDF2, SLC13A5, CLN3, NDUFS3, FGF14, SMARCB1, IL17RA, FOXG1, SYNJ1, FAM126A, TRAPPC9, TBX4, GRM6, CEACAM16, RP1, HERC2, CLIC5, FOXE1, POC1B, ABCA4, THOC6, MSX1, DRC1, CACNA1S, UCHL1, IYD, HNMT, TNC, TSEN54, NDUFAF5, FAM20A, HTRA1, ISPD, SDHAF2, MAN1B1, CLDN14, DNAJC19, CNBP, CHRNG, ELMOD3, PIGT, DNM2, ITGB6, TAP1, RNASEH1, MYO5A, IFITM5, OCA2, PTHLH, ELAC2, SLC35A2, COX10, SLC25A22, PLG, MAN2B1, CCDC103, IBA57, MARS2, COQ7, BMP4, SNAI2, PDGFRB, MTMR2, XYLT2, EIF2B4, HLA-DQA1, CEP104, PTCH1, ACE, CTSK, APOA2, CIB2, PAX6, TRAF3IP2, IFT172, PRRX1, TARDBP, SOX5, DOCK6, MT-ND2, CCDC114, PEX10, AGRN, MT-TD, RAB3GAP1, HTT, ETFDH, CCDC22, ITIH4, EPHX2, AP1S1, NDUFA2, KRT6C, SH3TC2, ZBTB16, EYA1, KLHL41, ZMYND10, SEC23B, ALDH2, ARHGAP31, TUBA8, LARS, RAB39B, PQBP1, IL7R, SPR, ZIC2, NFIX, CSPP1, TGFB3, FA2H, DMD, CHRNA1, PYCR2, UROS, PRKDC, NDUFS1, DDX58, CFI, CDHR1, MED12, ATP1A3, TMEM138, TOR1A, ASPH, MCM4, HSF4, ATP7B, B3GALT6, RS1, NPC2, DDOST, LPAR6, LMBRD1, GJB1, NMNAT1, SUMF1, INS, DNAJC13, BIN1, WDR72, HPCA, HSD17B4, DHCR7, PRNP, ENTPD1, ATM, KCNJ18, CASK, FXN, AKT3, EIF2B3, DIAPH1, FGFR2, RPL11, NKX3-2, L1CAM, WAC, ELOVL5, RET, SPTBN2, KCNJ2, KCNQ4, HACE1, LRP1, RNF125, CFHR1, ADCY6, CKAP2L, PLCB4, PLEKHG4, CACNA1D, CDH3, APOE, HGF, SUOX, TMEM216, WDR73, NGLY1, GNAS, COL3A1, ANO3, DOCK7, EVC2, ETHE1, VMA21, MMP19, PCYT1A, GLYCTK, SLC17A5, PIEZO2, NOG, DST, KIF1B, ITGA3, TBC1D24, BEAN1, MLC1, POMGNT1, ARFGEF2, KIF1A, ARSE, APOC2, SBF1, MKS1, ATXN8, TRMT5, DYNC2H1, KL, ERBB3, NDUFAF3, CEP135, TULP1, CHMP1A, COL6A2, P4HB, GATAD2B, CHAMP1, GNRHR, BUB1B, ABAT, TSEN2, KIAA2022, MYO1A, BTD, MRE11A, TUBB2B, COMP, SUCLA2, TAZ, MAT1A, TECR, ROR2, NOL3, PPP2R2B, TP63, DUSP6, DNMT3A, GATA1, TTLL5, TAPT1, LMOD3, FANCE, AGL, MT-TE, TMCO1, TAF1, TPM2, SLC19A2, PITX2, KLHL7, GPR179, MYO7A, AKT1, TPI1, ZNF687, OTOGL, LRPPRC, NONO, LARP7, VPS13A, EZH2, TWIST1, LOXL1, ERCC8, DNAH1, EDAR, HSPA9, GNE, NOD2, CC2D1A, MTM1, GJC2, POLA1, CHST3, EIF2B5, ASNS, TRIP11, TMEM5, PINK1, SEPN1, UNC80, PIGN, SEC23A, PTPN11, PEX12, GMPPA, SPG7, DMPK, VPS11, TMEM98, NDUFS4, IQCB1, LIPE, DNAAF2, CIDEC, COCH, COL5A2, TUBGCP4, PAX9, NEU1, MAPRE2, ZMPSTE24, CLCNKB, KERA, ADAM17, SYNGAP1, BRAT1, CDK5RAP2, KRT12, GTF2H5, ADCY1, EPM2A, PRDM5, RARS, SURF1, NHLRC1, ACTB, GRN, MERTK, CACNA1B, COL1A2, GBA2, GFAP, D2HGDH, PDK3, ITGA2B, G6PC3, MYH7, ELP4, ZBTB20, LRBA, COL4A5, NPR2, PROK2, TRNT1, DES, RUBCN, KCNT1, TERC, DLD, CAPN3, CHD2, IKBKAP, IL2RG, CUL7, DFNA5, FIG4, RPS28, IGSF3, ABCC6, CLCNKA, NME1, SP7, DFNB59, ERCC3, ATXN8OS, FRMD7, SIX6, AFF4, EDARADD, MVK, GK, CARD9, SPRED1, COL4A6, KRT13, ZNF81, CDH23, HARS, RBPJ, PKHD1, ACTA2, STS, VIPAS39, EPG5, UPF3B, RARB, SLC26A5, MC1R, DPH1, BMP1, MT-TL1, DARS2, GNPTAB, CTNS, SLC29A3, PTH1R, PEX11B, AARS2, NDN, TXNL4A, NPHP3, FOXP1, CASC5, FRAS1, EPS8, CFAP57, LRP2, SNCA, NF1, CDKL5, KIF4A, ANTXR1, AIRE, NBAS, DLG3, TTI2, PTS, ALDH6A1, PAX3, ATP2A2, B3GAT3, TGFB1, SLC39A4, SOST, PRPF6, COL11A1, EIF2AK3, TBCE, SCO1, RECQL4, GRHL3, DNMT1, GM2A, WDR60, OFD1, ADAMTSL4, NEFL, DCLRE1C, OTOF, FAM65B, TMEM67, ADAMTS17, NECTIN1, ALOXE3, ZBTB18, C19orf12, ROGDI, SATB2, CAST, DCHS1, PHEX, PAFAH1B1, SALL1, RAD21, OPN1LW, CDK6, CABP2, EFTUD2, STRC, KCNJ6, CHRDL1, TRAPPC2, FLRT3, DNAH5, GALC, TSPYL1, EIF4A3, NADK2, IGHMBP2, MTPAP, MYO3A, DPYS, SNX14, ITCH, ARX, TMIE, LAMB2, TECPR2, FANCM, CRADD, MBTPS2, ABCA1, COX8A, LZTFL1, TMEM240, CYP26C1, GATA3, SLFN14, RAG2, NECAP1, AFF2, WDR34, PLEC, SLC2A10, CRYAA, NEK2, PTF1A, SNAP29, SDHC, EDA, ATP1A2, GNAT1, GFM1, CACNA1F, PRSS12, PROC, ORAI1, ERLIN2, SNCAIP, MET, PDZD7, SLC25A46, IRF8, KRT16, EEF1A2, NR2F1, FKBP14, ADAMTS2, WDR11, GSC, GP9, WAS, SLC35A3, PAM16, TYRP1, COL11A2, COL7A1, COA6, GLB1, SMPD1, RD3, HSD17B10, PTDSS1, FOXP2, SDCCAG8, PROM1, FLNA, TBC1D20, MAB21L2, USP9X, CEP164, RDX, BRCA1, TUBB3, PTCHD1, LRTOMT, ATP5A1, ALDH1A3, SCN1A, KRT74, RHO, KIZ, PIGO, TTN, TSHR, RPS19, ATIC, TRPV3, TRPV4, KCNJ13, HIKESHI, SERPINC1, KCNQ1, LHB, UBB, STUB1, PDE6H, EIF2B1, WNT3, BCL10, MED25, ERF, TBP, MYH9, WNT1, NEK1, TNFRSF11A, C12orf65, ABCC9, PRSS56, AUTS2, GRM1, MT-ND4L, F10, RARS2, ADNP, BSCL2, BAG3, IRF6, MPLKIP, TRIM37, PRRT2, FLNB, ALG13, SLC37A4, PDGFB, SRCAP, GDF5, CAV1, MPC1, POLR1A, BBIP1, DIS3L2, TTBK2, KBTBD13, ORC1, AMELX, BCAP31, ITGB3, TBX3, PPARG, FAM111A, MCIDAS, PRKAR1A, GALNS, OPN1MW, BTK, OVOL2, RP1L1, COX6B1, CLASP1, EFEMP2, BLOC1S6, NDUFV1, XYLT1, CECR1, WFS1, EMD, CLN8, GRIA3, TIMM8A, CYP2R1, HEPACAM, FBLN5, RBM8A, ABCA12, DIAPH3, GLUD2, LYST, GCH1, LINS1, RYR1, MORC2, AKT2, AGXT, ANTXR2, DDX11, CLDN19, MRPL44, GNPAT, NSUN2, STAT1, ELOVL4, FANCC, MPZ, SLC35C1, RTTN, RPIA, MYO6, NDP, SYN1, GLRX5, CLN5, FERMT1, ADCY5, MIR184, TXN2, RNU4ATAC, GPC3, KCNJ11, CACNA1G, GJA1, CFHR3, INPP5E, ALS2, COL17A1, KPTN, DDC, P2RX2, LAMB3, SIX1, FBN2, PEX26, GALE, SHOX, IL36RN, C5orf42, PHOX2B, MED17, MAP2K2, CHSY1, RP2, CDKN1C, USH1G, MPDU1, SIL1, RPE65, FKBP10, LRIG2, ADH1C, USB1, IL1RAPL1, RUNX2, NHP2, GORAB, RAB23, GJB2, ATR, ATXN2, ZAK, PHF6, IL17RC, SLC39A13, SMPX, KCTD7, GRXCR1, LMBR1, NOTCH1, CEP57, FLVCR2, PACS1, LIFR, HOXA2, RTEL1, OPA1, TBX6, TBXAS1, DOLK, NAGA, DLX3, KCNC3, TPRN, ARNT2, B4GAT1, PIK3R1, WDR35, FTO