MOLECULAR BASIS

Associated diseases: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, PULMONARY ALVEOLAR MICROLITHIASIS, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MICROPHTHALMIA, ISOLATED 3, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, ACHONDROPLASIA, {THIOPURINES, POOR METABOLISM OF, 1}, MULIBREY NANISM, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, FACTOR V DEFICIENCY, ?IMMUNODEFICIENCY 39, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CEROID LIPOFUSCINOSIS NEURONAL 6, AMELOGENESIS IMPERFECTA, TYPE IIA2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, HEMOCHROMATOSIS, TYPE 2B, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DYSAUTONOMIA, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, CHOANAL ATRESIA AND LYMPHEDEMA, CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, 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, ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, {ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2}, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), VAN DER WOUDE SYNDROME 2, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, C2 DEFICIENCY, JOUBERT SYNDROME 5, ATRIAL SEPTAL DEFECT 8, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HYPERPROINSULINEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, SPINOCEREBELLAR ATAXIA 15, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HYPERCHLORHIDROSIS, ISOLATED, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, ?NEUTROPHILIA, HEREDITARY, 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, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, CK SYNDROME, ATRIAL SEPTAL DEFECT 9, BENIGN FAMILIAL HEMATURIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, VOHWINKEL SYNDROME WITH ICHTHYOSIS, FLOATING-HARBOR SYNDROME, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, IRON-REFRACTORY IRON DEFICIENCY ANEMIA, BURKITT LYMPHOMA, SPINAL MUSCULAR ATROPHY-1, WOOLLY HAIR, AUTOSOMAL DOMINANT, PRADER-WILLI SYNDROME, {PARKINSON DISEASE 8}, MUCOPOLYSACCHARIDOSIS TYPE IIID, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, ACROMELIC FRONTONASAL DYSOSTOSIS, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, HOLT-ORAM SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 1, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, [BLOOD GROUP, VEL SYSTEM], CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, SEIZURES, BENIGN NEONATAL, TYPE 2, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, MYOPATHY, MYOFIBRILLAR, 1, 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, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, GHOSAL HEMATODIAPHYSEAL SYNDROME, ?CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, HYPOSPADIAS 1, X-LINKED, ?MECKEL SYNDROME 12, SPINOCEREBELLAR ATAXIA 19, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, UV-SENSITIVE SYNDROME 2, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, MUCOPOLYSACCHARIDOSIS VII, TRIGONOCEPHALY 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, OOCYTE MATURATION DEFECT 1, ABLEPHARON-MACROSTOMIA SYNDROME, ?AL-GAZALI-BAKALINOVA SYNDROME, HEMOCHROMATOSIS TYPE 1, HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, MECONIUM ILEUS, MYOPATHY, CENTRONUCLEAR, 3, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 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, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, HMG-COA SYNTHASE-2 DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, ?DEAFNESS, AUTOSOMAL RECESSIVE 61, JACKSON-WEISS SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, JOUBERT SYNDROME 23, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, RENAL CYSTS AND DIABETES SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, THRYOID DYSHORMONOGENESIS 6, ?CARDIOMYOPATHY, DILATED, 2A, 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, ?SPERMATOGENIC FAILURE 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, CURRARINO SYNDROME, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, DEAFNESS, X-LINKED 1, MARFAN LIPODYSTROPHY SYNDROME, SICKLE CELL ANEMIA, CORTISONE REDUCTASE DEFICIENCY 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, XERODERMA PIGMENTOSUM, GROUP B, SPINOCEREBELLAR ATAXIA 11, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), CATARACT 19, MULTIPLE TYPES, SHAHEEN SYNDROME, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, CONE-ROD DYSTROPHY 20, BOTHNIA RETINAL DYSTROPHY, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CARDIOMYOPATHY, DILATED, 1V, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, 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, SPONDYLOCOSTAL DYSOSTOSIS 5, MULTIPLE FIBROADENOMAS OF THE BREAST, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, PORENCEPHALY 1, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, RETINITIS PIGMENTOSA 62, GLUCOCORTICOID DEFICIENCY 2, AMELOGENESIS IMPERFECTA, TYPE IIA1, CILIARY DYSKINESIA, PRIMARY, 25, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, WAARDENBURG SYNDROME, TYPE 4B, LEIOMYOMATOSIS AND RENAL CELL CANCER, RETINITIS PIGMENTOSA 65, CONE-ROD DYSTROPHY 15, ?SECKEL SYNDROME 6, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, COACH SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, 46XY SEX REVERSAL 9, CONE-ROD DYSTROPHY 18, ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES, DEAFNESS, AUTOSOMAL RECESSIVE 98, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, NEUROFIBROMATOSIS-NOONAN SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MITCHELL-RILEY SYNDROME, OCCULT MACULAR DYSTROPHY, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, {OBESITY, SUSCEPTIBILITY TO, BMIQ14}, FARBER LIPOGRANULOMATOSIS, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, NEMALINE MYOPATHY 5, AMISH TYPE, PICK DISEASE, STORMORKEN SYNDROME, RETINITIS PIGMENTOSA 35, MENTAL RETARDATION, X-LINKED 1, PROPIONICACIDEMIA, ADENOMAS, MULTIPLE COLORECTAL, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, AMELOGENESIS IMPERFECTA, TYPE IB, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, AICARDI-GOUTIERES SYNDROME 5, PERIODIC FEVER, FAMILIAL, CONGENITAL DISORDER OF DEGLYCOSYLATION, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, CUTIS LAXA, AUTOSOMAL DOMINANT 3, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, 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, VENTRICULAR SEPTAL DEFECT 3, RENAL TUBULAR DYSGENESIS, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, OCCIPITAL HORN SYNDROME, HEMOPHILIA A, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP O, MARTSOLF SYNDROME, CATEL-MANZKE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, {MELANOMA, CUTANEOUS MALIGNANT, 3}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 6}, ?CHILBLAIN LUPUS 2, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, 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, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, IMMUNODEFICIENCY 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, SCLEROSTEOSIS 1, JOUBERT SYNDROME 10, DIHYDROPYRIMIDINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 5, ?INFANTILE LIVER FAILURE SYNDROME 1, PROLIDASE DEFICIENCY, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, CATARACT 5, MULTIPLE TYPES, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 2}, LACTASE PERSISTENCE/NONPERSISTENCE, SPINOCEREBELLAR ATAXIA 35, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, NOONAN SYNDROME 10, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 4, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), {ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO}, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, ?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, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, AMYOTROPHY, HEREDITARY NEURALGIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, DOOR SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, ?AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, WOODHOUSE-SAKATI SYNDROME, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, OHDO SYNDROME, X-LINKED, FIBROCHONDROGENESIS 1, AMELOGENESIS IMPERFECTA, TYPE IIA5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, LOEYS-DIETZ SYNDROME 5, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ?SLOWED NERVE CONDUCTION VELOCITY, AD, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA, [HISTIDINEMIA], [URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, SPINOCEREBELLAR ATAXIA 38, DEAFNESS, AUTOSOMAL RECESSIVE 1B, POROKERATOSIS 1, MULTIPLE TYPES, NEU-LAXOVA SYNDROME 2, HAJDU-CHENEY SYNDROME, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 3, TRANSIENT BULLOUS OF THE NEWBORN, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, RETINITIS PIGMENTOSA 11, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, GNATHODIAPHYSEAL DYSPLASIA, LESCH-NYHAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, 3MC SYNDROME 1, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MECKEL SYNDROME 3, DEAFNESS, AUTOSOMAL DOMINANT 50, {SPECIFIC LANGUAGE IMPAIRMENT 5}, ERYTHROCYTOSIS, FAMILIAL, 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, 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, CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEBER CONGENITAL AMAUROSIS 15, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, TRANSPOSITION OF GREAT ARTERIES, DEXTRO-LOOPED 3, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ISOVALERIC ACIDEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, FAILURE OF TOOTH ERUPTION, PRIMARY, SJOGREN-LARSSON SYNDROME, MARSHALL SYNDROME, ZINC DEFICIENCY, TRANSIENT NEONATAL, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MACULAR DEGENERATION, EARLY-ONSET, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PSEUDOACHONDROPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, DIARRHEA 6, WILSON DISEASE, SENIOR-LOKEN SYNDROME 4, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, LONG QT SYNDROME 13, CILIARY DYSKINESIA, PRIMARY, 13, RENAL HYPODYSPLASIA, NONSYNDROMIC, 1, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6, RITSCHER-SCHINZEL SYNDROME 2, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, LYMPHEDEMA, HEREDITARY, IA, ?NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G, PARTINGTON SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 1, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, RETINITIS PIGMENTOSA 2, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, ?LACRIMAL DUCT DEFECT, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, METATROPIC DYSPLASIA, SC PHOCOMELIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, BETA-UREIDOPROPIONASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP T, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), SENIOR-LOKEN SYNDROME 5, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, NEPHRONOPHTHISIS 2, INFANTILE, MENTAL RETARDATION, X-LINKED 9, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, TRIGONOCEPHALY 2, OROTIC ACIDURIA, HARTSFIELD SYNDROME, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, IMMUNODEFICIENCY 21, TIMOTHY SYNDROME, PNEUMOTHORAX, PRIMARY SPONTANEOUS, 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, DOWLING-DEGOS DISEASE 1, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, NEU-LAXOVA SYNDROME 1, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?CARDIOMYOPATHY, DILATED, 2B, FRONTOMETAPHYSEAL DYSPLASIA, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, CENTRONUCLEAR MYOPATHY 5, DEAFNESS, AUTOSOMAL DOMINANT 41, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, EPIDERMOLYSIS BULLOSA, PRETIBIAL, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SICK SINUS SYNDROME 1, HAND-FOOT-UTERUS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PARKINSON DISEASE 4, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [BOMBAY PHENOTYPE], HYPERLIPOPROTEINEMIA, TYPE IB, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?DIAMOND-BLACKFAN ANEMIA 11, GERODERMA OSTEODYSPLASTICUM, COMBINED SAP DEFICIENCY, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, MICROPHTHALMIA WITH LIMB ANOMALIES, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, COLD-INDUCED SWEATING SYNDROME 2, MENTAL RETARDATION, X-LINKED 45, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, ?RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CATARACT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ATRIAL SEPTAL DEFECT 5, NEPHRONOPHTHISIS 3, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, XERODERMA PIGMENTOSUM, GROUP C, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, IMMUNODEFICIENCY 14, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, GLUCOCORTICOID RESISTANCE, METHYLMALONIC ACIDURIA CBLB TYPE, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8}, {EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2}, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, CATARACT 14, MULTIPLE TYPES, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, HYPEREKPLEXIA 3, OLMSTED SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, RETINITIS PIGMENTOSA 70, TANGIER DISEASE, PAPILLON-LEFEVRE SYNDROME, JOUBERT SYNDROME 21, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, BARTH SYNDROME, USHER SYNDROME, TYPE 1G, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, COENZYME Q10 DEFICIENCY, PRIMARY, 1, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, DEAFNESS, AUTOSOMAL DOMINANT 67, ?GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT, MEIER-GORLIN SYNDROME 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, HYPERPARATHYROIDISM, FAMILIAL PRIMARY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PARAMYOTONIA CONGENITA, OPITZ-KAVEGGIA SYNDROME, SENGERS SYNDROME, BARDET-BIEDL SYNDROME 5, FRASIER SYNDROME, AGAMMAGLOBULINEMIA 4, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, ALPHA-FETOPROTEIN DEFICIENCY, OVARIAN DYSGENESIS 3, 46,XX SEX REVERSAL, TYPE 2, MACULAR DYSTROPHY, VITELLIFORM, 2, EMBERGER SYNDROME, MANITOBA OCULOTRICHOANAL SYNDROME, USHER SYNDROME, TYPE 1C, DEAFNESS, AUTOSOMAL DOMINANT 3B, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, GILLESPIE SYNDROME, MYHRE SYNDROME, LAURIN-SANDROW SYNDROME, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, HYPERPROLINEMIA, TYPE I, MYOTONIA CONGENITA, RECESSIVE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, BLUE CONE MONOCHROMACY, CUTIS LAXA, AD, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, SPERMATOGENIC FAILURE 7, 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, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, BONE MARROW FAILURE SYNDROME 2, {PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO}, LONG QT SYNDROME-3, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, 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, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, CEROID LIPOFUSCINOSIS, NEURONAL, 7, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, HEPATIC LIPASE DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 65, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, GALLOWAY-MOWAT SYNDROME, PYRUVATE CARBOXYLASE DEFICIENCY, PRIMROSE SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, PELGER-HUET ANOMALY, PARAGANGLIOMAS 2, TRANSALDOLASE DEFICIENCY, BARDET-BIEDL SYNDROME 6, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FEBRILE SEIZURES, FAMILIAL, 11, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SMITH-MCCORT DYSPLASIA, SENIOR-LOKEN SYNDROME 8, GLUTARIC ACIDURIA III, LYMPHEDEMA, HEREDITARY, III, [EOSINOPHIL PEROXIDASE DEFICIENCY], 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, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, RETT SYNDROME, CONGENITAL VARIANT, ?DEAFNESS, AUTOSOMAL DOMINANT 68, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, HUNTINGTON DISEASE, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 13, DYSTONIA 16, XIA-GIBBS SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, 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, CEREBRAL CAVERNOUS MALFORMATIONS-2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, ENDOCRINE-CEREBROOSTEODYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, 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, [PENTOSURIA], THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ?MECKEL SYNDROME 9, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, ATRIOVENTRICULAR SEPTAL DEFECT 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, PSEUDOHYPOALDOSTERONISM, TYPE IID, MUCOPOLYSACCHARIDOSIS II, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, CHOROIDEREMIA, CITRULLINEMIA, ADULT-ONSET TYPE II, MENTAL RETARDATION, X-LINKED 29 AND OTHERS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, DYSTONIA-12, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, OSTEOGENESIS IMPERFECTA, TYPE XI, DEAFNESS, AUTOSOMAL RECESSIVE 53, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, ACHONDROGENESIS, TYPE IA, MENTAL RETARDATION, X-LINKED 96, DEAFNESS, AUTOSOMAL RECESSIVE 21, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 94, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, UV-SENSITIVE SYNDROME 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, NEPHRONOPHTHISIS 13, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, BJORNSTAD SYNDROME, HYPEREKPLEXIA HEREDITARY, HERMANSKY-PUDLAK SYNDROME 9, BARTTER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED 46, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, FUMARASE DEFICIENCY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, JALILI SYNDROME, MENTAL RETARDATION, X-LINKED 41, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, HUNTINGTON DISEASE-LIKE 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT, DEAFNESS, AUTOSOMAL DOMINANT 28, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, DEAFNESS, AUTOSOMAL RECESSIVE 30, LI-FRAUMENI SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, TATTON-BROWN-RAHMAN SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, RETINITIS PIGMENTOSA 13, ?MYOSCLEROSIS, CONGENITAL, GLIOMA SUSCEPTIBILITY 1, PLATELET GLYCOPROTEIN IV DEFICIENCY, DENTAL ANOMALIES AND SHORT STATURE, ?APLASIA CUTIS CONGENITA, NONSYNDROMIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, A, EPISODIC ATAXIA, TYPE 6, CRANIOECTODERMAL DYSPLASIA 3, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, CATARACT 13 WITH ADULT I PHENOTYPE, IMMUNODEFICIENCY 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {APLASTIC ANEMIA}, ECTOPIA LENTIS, FAMILIAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, POIKILODERMA WITH NEUTROPENIA, GALACTOSEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI ANEMIA, COMPLEMENTATION GROUP L, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, 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, SPERMATOGENIC FAILURE 10, CARDIOMYOPATHY, DILATED, 1X, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, {BLEPHAROSPASM, PRIMARY BENIGN}, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, CARDIOMYOPATHY, HYPERTROPHIC, 17, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, 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, NEPHRONOPHTHISIS 4, GM1-GANGLIOSIDOSIS, TYPE II, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, AGAMMAGLOBULINEMIA 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, BRACHYDACTYLY, TYPE A2, GLUCOCORTICOID DEFICIENCY 4, HETEROTAXY, VISCERAL, 6, AUTOSOMAL RECESSIVE, UV-SENSITIVE SYNDROME 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11, COWDEN SYNDROME 7, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, HAMAMY SYNDROME, {?THYROID CANCER, NONMEDULLARY, 5}, ATAXIA-OCULOMOTOR APRAXIA 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ?SPINOCEREBELLAR ATAXIA 34, SPINOCEREBELLAR ATAXIA 42, IMMUNODEFICIENCY 46, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, CODAS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, DENT DISEASE 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, SUPRANUCLEAR PALSY, PROGRESSIVE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, RETINITIS PIGMENTOSA-40, LONG QT SYNDROME 12, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BEHR SYNDROME, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 4, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, IMMUNODEFICIENCY, COMMON VARIABLE, 6, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, IMMUNODEFICIENCY 38, ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, GLUTARICACIDURIA, TYPE I, KERATOSIS PALMOPLANTARIS STRIATA I, AD, NEPHRONOPHTHISIS 19, ACRODERMATITIS ENTEROPATHICA, DEAFNESS, AUTOSOMAL DOMINANT 15, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, DANON DISEASE, CORNELIA DE LANGE SYNDROME 5, HPRT-RELATED GOUT, BRACHIOOTIC SYNDROME 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, ?CARDIOMYOPATHY, HYPERTROPHIC, 19, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, ?STEEL SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, FILIPPI SYNDROME, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, ?RENAL HYPODYSPLASIA/APLASIA 2, NEMALINE MYOPATHY 6, AUTOSOMAL DOMINANT, GAUCHER DISEASE, TYPE IIIC, ACHEIROPODY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, INSOMNIA, FATAL FAMILIAL, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MICROPHTHALMIA, SYNDROMIC 2, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, SICK SINUS SYNDROME 2, ICHTHYOSIS, X-LINKED, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, LARSEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, C3 DEFICIENCY, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, CARDIOMYOPATHY, HYPERTROPHIC, 18, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ALKAPTONURIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 31, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ?OPTIC ATROPHY 9, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, NAXOS DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 36, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FRANK-TER HAAR SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, KAPPA LIGHT CHAIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, SEIZURES, BENIGN FAMILIAL INFANTILE, 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CARPENTER SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, AMELOGENESIS IMPERFECTA, TYPE IIA3, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, LISSENCEPHALY 6, WITH MICROCEPHALY, LYSYL HYDROXYLASE 3 DEFICIENCY, CATARACT 39, MULTIPLE TYPES, AUTOSOMAL DOMINANT, PARAGANGLIOMAS 3, IMMUNODEFICIENCY 12, HOLOPROSENCEPHALY-2, INFANTILE NEUROAXONAL DYSTROPHY 1, CULLER-JONES SYNDROME, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, RETINITIS PIGMENTOSA 59, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ANONYCHIA CONGENITA, NEURODEGENERATION WITH BRAIN IRON ACCULULATION 5, ?CATARACT 42, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE IA, NANCE-HORAN SYNDROME, ?WEBB-DATTANI SYNDROME, WAARDENBURG SYNDROME, TYPE 4A, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, WIEDEMANN-STEINER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, ELLIPTOCYTOSIS-2, FAMILIAL ADENOMATOUS POLYPOSIS 3, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, EIKEN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, SCHNECKENBECKEN DYSPLASIA, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, HYPOKALEMIC PERIODIC PARALYSIS 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 5, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, CAVITARY OPTIC DISC ANOMALIES, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CATARACT 16, MULTIPLE TYPES, HYPERPROLINEMIA, TYPE II, SPINOCEREBELLAR ATAXIA 6, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, RETINITIS PIGMENTOSA 72, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, NORRIE DISEASE, HYPOCHONDROPLASIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, DEAFNESS, AUTOSOMAL RECESSIVE 16, IMAGE SYNDROME, CHERUBISM, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ODONTOONYCHODERMAL DYSPLASIA, DESBUQUOIS DYSPLASIA 1, DYSTONIA 24, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, KANZAKI DISEASE, MARSHALL-SMITH SYNDROME, MACULAR DYSTROPHY, VITELLIFORM, 3, PEROXISOME BIOGENESIS DISORDER 7B, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, CORTICAL MALFORMATIONS, OCCIPITAL, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, OVARIAN DYSGENESIS 4, 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, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LIANG DISTAL MYOPATHY, AMELOGENESIS IMPERFECTA, TYPE IH, ?DEAFNESS, AUTOSOMAL RECESSIVE 66, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HOLOPROSENCEPHALY-5, 2-METHYLBUTYRYLGLYCINURIA, DIAMOND-BLACKFAN ANEMIA 3, IMMUNODEFICIENCY 24, ?CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 3, [ECULIZUMAB, POOR RESPONSE TO], GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MONONEUROPATHY OF THE MEDIAN NERVE, MILD, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ?MIRROR MOVEMENTS 3, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, AORTIC ANEURYSM, FAMILIAL THORACIC 4, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCONI ANEMIA, COMPLEMENTATION GROUP P, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RAINE SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, WIEACKER-WOLFF SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10, NIJMEGEN BREAKAGE SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, 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, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, ARTHROGRYPOSIS, DISTAL, TYPE 8, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, HYPOTRICHOSIS 11, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, DEAFNESS, AUTOSOMAL RECESSIVE 25, PERRAULT SYNDROME 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, ANAUXETIC DYSPLASIA, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 8, PYCNODYSOSTOSIS, DENTIN DYSPLASIA, TYPE II, ARGININOSUCCINIC ACIDURIA, ?COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, SPINAL MUSCULAR ATROPHY-2, PEELING SKIN SYNDROME 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE XVII, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, {THYROID CANCER, NONMEDULLARY, 4}, CATARACT 1, MULTIPLE TYPES, BRACHYDACTYLY, TYPE C, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, MENTAL RETARDATION, X-LINKED 12/35, PRECOCIOUS PUBERTY, CENTRAL, 2, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, OROFACIODIGITAL SYNDROME IV, OROFACIODIGITAL SYNDROME V, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, ?SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, LONG QT SYNDROME 6, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID, CILIARY DYSKINESIA, PRIMARY, 33, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, JOUBERT SYNDROME 6, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, SPHEROCYTOSIS, TYPE 2, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, DEAFNESS, AUTOSOMAL RECESSIVE 59, RETINOSCHISIS, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, BRACHYDACTYLY, TYPE A1, C, RETINITIS PIGMENTOSA 69, CRANIOSYNOSTOSIS, TYPE 2, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NOONAN SYNDROME 9, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, DENYS-DRASH SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, NYSTAGMUS 1, CONGENITAL, X-LINKED, NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, SEBASTIAN SYNDROME, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, CORTISONE REDUCTASE DEFICIENCY 1, TARSAL-CARPAL COALITION SYNDROME, FRAXE, LEUKODYSTROPHY, HYPOMYELINATING, 2, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS, ?POLYDACTYLY, POSTAXIAL, TYPE A6, CORNEAL DYSTROPHY, AVELLINO TYPE, PEELING SKIN SYNDROME 2, MUCOLIPIDOSIS IV, SYMPHALANGISM, PROXIMAL, 1A, WHITE-SUTTON SYNDROME, HEIMLER SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, RETICULAR DYSGENESIS, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, NOONAN SYNDROME 8, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, MEDNIK SYNDROME, CHAR SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, RETINITIS PIGMENTOSA 37, TRICHOHEPATOENTERIC SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, PEROXISOME BIOGENESIS DISORDER 3B, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, FRUCTOSE INTOLERANCE, IMMUNODEFICIENCY 30, ?MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, PRIMARY LATERAL SCLEROSIS, JUVENILE, MECKEL SYNDROME 7, BRITTLE CORNEA SYNDROME 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, NEPHROTIC SYNDROME, TYPE 2, CONE-ROD DYSTROPHY, X-LINKED, 3, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], GIANT AXONAL NEUROPATHY-1, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?DIAMOND-BLACKFAN ANEMIA 12, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, MCLEOD SYNDROME WITH OR WITHOUT CHRONIC GRANULOMATOUS DISEASE, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, OSTEOGENESIS IMPERFECTA, TYPE VII, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ELLIS-VAN CREVELD SYNDROME, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, APPARENT MINERALOCORTICOID EXCESS, OCULOAURICULAR SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, KRABBE DISEASE, ?DIARRHEA 7, MENTAL RETARDATION, X-LINKED 19, ?GLYCOGEN STORAGE DISEASE XV, BRANCHIOOTIC SYNDROME 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MELEDA DISEASE, ICHTHYOSIS WITH CONFETTI, OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, GRACILE BONE DYSPLASIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, FIBROCHONDROGENESIS 2, EPITHELIAL RECURRENT EROSION DYSTROPHY, CARDIOMYOPATHY, HYPERTROPHIC, 16, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ESCOBAR SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, SPLENIC HYPOPLASIA, LEUKODYSTROPHY, HYPOMYELINATING, 9, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, LYMPHEDEMA, HEREDITARY, ID, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, ADAMS-OLIVER SYNDROME 4, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, HETEROTOPIA, PERIVENTRICULAR, GALLBLADDER DISEASE 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ?OLMSTED SYNDROME, X-LINKED, CYSTINURIA, VON WILLEBRAND DISEASE, PLATELET-TYPE, AICARDI-GOUTIERES SYNDROME 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44, ?PARKINSONISM WITH SPASTICITY, X-LINKED, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, NEPHRONOPHTHISIS 11, ?CANDIDIASIS, FAMILIAL, 8, SENIOR-LOKEN SYNDROME 9, GLYCOGEN STORAGE DISEASE 0, MUSCLE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, LYMPHEDEMA, HEREDITARY, IC, GRISCELLI SYNDROME, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, GRAY PLATELET SYNDROME, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, ACHROMATOPSIA-3, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, DILATED, 1U, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], PULMONARY VENOOCCLUSIVE DISEASE 2, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, WARBURG MICRO SYNDROME 3, BASAL CELL NEVUS SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, GLASS SYNDROME, MYOPATHY, CENTRONUCLEAR, 4, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, BROWN-VIALETTO-VAN LAERE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 10, JOUBERT SYNDROME 25, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, IMMUNODEFICIENCY 40, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, 3-M SYNDROME 3, ?OSTEOGENESIS IMPERFECTA, TYPE X, ?MENTAL RETARDATION, X-LINKED 100, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FANCONI ANEMIA, COMPLEMENTATION GROUP E, WARBURG MICRO SYNDROME 2, MORBID OBESITY AND SPERMATOGENIC FAILURE, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, ?BARDET-BIEDL SYNDROME 19, EPISODIC ATAXIA/MYOKYMIA SYNDROME, LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), LONG QT SYNDROME 5, ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 4}, IMMUNODEFICIENCY 43, SPERMATOGENIC FAILURE 12, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, GAUCHER DISEASE, PERINATAL LETHAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CEROID LIPOFUSCINOSIS, NEURONAL, 5, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, TOENAIL DYSTROPHY, ISOLATED, FILS SYNDROME, SPINOCEREBELLAR ATAXIA 21, NORUM DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, NEPHRONOPHTHISIS 12, CARDIOMYOPATHY, DILATED, 1HH, EXUDATIVE VITREORETINOPATHY 5, SPINOCEREBELLAR ATAXIA 23, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, OPITZ GBBB SYNDROME, TYPE I, RETINITIS PIGMENTOSA 38, MECKEL SYNDROME 10, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, BEAULIEU-BOYCOTT-INNES SYNDROME, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, MIYOSHI MUSCULAR DYSTROPHY 3, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, OPTIC ATROPHY 1, PARKINSON DISEASE 1, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 13, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, TRANSCOBALAMIN II DEFICIENCY, DEMENTIA, FAMILIAL, NONSPECIFIC, AGNATHIA-OTOCEPHALY COMPLEX, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, TEMPLE-BARAITSER SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, 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, APHAKIA, CONGENITAL PRIMARY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1F, AUTOSOMAL RECESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SCHAAF-YANG SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CATARACT 44, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CATARACT 12, MULTIPLE TYPES, AL-RAQAD SYNDROME, COLD-INDUCED SWEATING SYNDROME 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, NEPHROTIC SYNDROME, TYPE 10, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, RETINITIS PIGMENTOSA 74, MYOTONIC DYSTROPHY 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, DEAFNESS, AUTOSOMAL RECESSIVE 67, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, NEPHRONOPHTHISIS 1, JUVENILE, VISCERAL MYOPATHY, 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, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, MARINESCO-SJOGREN SYNDROME, LEBER CONGENITAL AMAUROSIS 16, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1D, AUTOSOMAL RECESSIVE, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, COMPLEMENT FACTOR H DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, NASU-HAKOLA DISEASE, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, ALPORT SYNDROME, IMINOGLYCINURIA, DIGENIC, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), CYSTATHIONINURIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PACHYONYCHIA CONGENITA 1, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ?PONTOCEREBELLAR HYPOPLASIA TYPE 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, 46XY SEX REVERSAL 6, MCARDLE DISEASE, PANCREATIC AGENESIS 2, ?SECKEL SYNDROME 8, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AMINOACYLASE 1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 6B, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, D-2-HYDROXYGLUTARIC ACIDURIA, PORENCEPHALY 2, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, OROFACIODIGITAL SYNDROME I, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ACROMICRIC DYSPLASIA, BRITTLE CORNEA SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, HYPOPHOSPHATEMIC RICKETS, ?SNEDDON SYNDROME, CATARACT 2, MULTIPLE TYPES, SPINOCEREBELLAR ATAXIA 12, PANCREATIC AGENESIS 1, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, NEPHROTIC SYNDROME, TYPE 3, PARAGANGLIOMAS 4, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, PARAGANGLIOMAS 5, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RETINITIS PIGMENTOSA 41, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPHEROCYTOSIS, TYPE 1, RETINITIS PIGMENTOSA 71, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, IMMUNODEFICIENCY 9, RETINITIS PIGMENTOSA 60, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, C8 DEFICIENCY, TYPE I, HYPOPHOSPHATASIA, INFANTILE, DEAFNESS AND MYOPIA, [PREMATURE CHROMATID SEPARATION TRAIT], BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, EPILEPSY, PROGRESSIVE MYOCLONIC 7, ALSTROM SYNDROME, {RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO}, 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, 3-M SYNDROME 1, ?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, INTERSTITIAL LUNG AND LIVER DISEASE, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, ZIMMERMANN-LABAND SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, DISTAL, 4, ?ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE, STICKLER SYNDROME, TYPE I, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY, BARDET-BIEDL SYNDROME 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, SPINOCEREBELLAR ATAXIA 28, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, KABUKI SYNDROME 2, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AURICULOCONDYLAR SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, DUANE-RADIAL RAY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, STARGARDT DISEASE 3, 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, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27, BARDET-BIEDL SYNDROME 8, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, ATRIAL FIBRILLATION, FAMILIAL, 12, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, RIBOFLAVIN DEFICIENCY, PERRAULT SYNDROME 3, MUSCLE GLYCOGENOSIS, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, VESICOURETERAL REFLUX 3, BRUCK SYNDROME 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10, AURAL ATRESIA, CONGENITAL, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, OPTIC ATROPHY 3 WITH CATARACT, OGUCHI DISEASE-1, PITT-HOPKINS-LIKE SYNDROME 2, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, MENTAL RETARDATION, FRA12A TYPE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, SYNDACTYLY, TYPE V, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ACHROMATOPSIA 6, RETINAL CONE DYSTROPHY 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SPINOCEREBELLAR ATAXIA 13, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, INFANTILE LIVER FAILURE SYNDROME 2, SPLIT-HAND/FOOT MALFORMATION 4, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, WEAVER SYNDROME, PACHYONYCHIA CONGENITA 2, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCINE ENCEPHALOPATHY, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, GAPO SYNDROME, STICKLER SYNDROME, TYPE II, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ?SPERMATOGENIC FAILURE 6, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, SED CONGENITA, JAWAD SYNDROME, MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), DEAFNESS, AUTOSOMAL RECESSIVE 76, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CILIARY DYSKINESIA, PRIMARY, 27, LATHOSTEROLOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, BARDET-BIEDL SYNDROME 13, DEAFNESS, AUTOSOMAL RECESSIVE 24, PREMATURE OVARIAN FAILURE 5, EDICT SYNDROME, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, 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, HYPOSPADIAS 2, X-LINKED, LISSENCEPHALY 3, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, ABETALIPOPROTEINEMIA, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, 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, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, BLEEDING DISORDER, PLATELET-TYPE, 11, VENTRICULAR SEPTAL DEFECT 2, MECKEL SYNDROME 5, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 5, CILIARY DYSKINESIA, PRIMARY, 16, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, MITRAL VALVE PROLAPSE 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9, MYOPIA 24, AUTOSOMAL DOMINANT, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 7, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, RETINAL CONE DYSTROPHY 4, ATAXIA-OCULOMOTOR APRAXIA 3, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 15, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ATRIAL FIBRILLATION, FAMILIAL, 10, PREIMPLANTATION EMBRYONIC LETHALITY, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, [SHORT SLEEPER], ATELOSTEOGENESIS, TYPE III, HYPOTRICHOSIS 6, VERHEIJ SYNDROME, HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, 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, MIRROR MOVEMENTS 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 20, C8 DEFICIENCY, TYPE II, AMELOGENESIS IMPERFECTA, TYPE III, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CILIARY DYSKINESIA, PRIMARY, 29, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, DEAFNESS, AUTOSOMAL DOMINANT 11, HERMANSKY-PUDLAK SYNDROME 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, X-LINKED, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, ANGIOEDEMA, HEREDITARY, TYPES I AND II, CEREBROTENDINOUS XANTHOMATOSIS, EPILEPSY, FAMILIAL TEMPORAL LOBE, 5, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, DEAFNESS, AUTOSOMAL DOMINANT 4A, 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, JOUBERT SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SPINOCEREBELLAR ATAXIA 27, WARSAW BREAKAGE SYNDROME, RETINITIS PIGMENTOSA 68, IMMUNODEFICIENCY 35, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, VAN BUCHEM DISEASE, TYPE 2, CRANIOSYNOSTOSIS 4, [FRUCTOSURIA], BRUGADA SYNDROME 1, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 11, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE, WRINKLY SKIN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, HYPOURICEMIA, RENAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 41, DEAFNESS, AUTOSOMAL DOMINANT 40, SPINAL MUSCULAR ATROPHY-4, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GALACTOKINASE DEFICIENCY WITH CATARACTS, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, LONG QT SYNDROME 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, KBG SYNDROME, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPLIT-HAND/FOOT MALFORMATION 6, DEAFNESS, AUTOSOMAL RECESSIVE 79, 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, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CRANIOSYNOSTOSIS 3, HYPERBILIVERDINEMIA, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, DERMATOPATHIA PIGMENTOSA RETICULARIS, ?TETRA-AMELIA SYNDROME, CITRULLINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, JOUBERT SYNDROME 15, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, VIBRATORY URTICARIA, LONG QT SYNDROME 15, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, 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, BRACHYDACTYLY, TYPE A1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL, LEBER CONGENITAL AMAUROSIS 17, WAARDENBURG SYNDROME, TYPE 4C, CILIARY DYSKINESIA, PRIMARY, 30, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, JOUBERT SYNDROME 24, DEAFNESS, AUTOSOMAL RECESSIVE 22, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, KLEEFSTRA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 2B, TREMOR, HEREDITARY ESSENTIAL, 5, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), WOOLLY HAIR, AUTOSOMAL RECESSIVE 2 WITH OR WITHOUT HYPOTRICHOSIS, HYPOTRICHOSIS 7, CANAVAN DISEASE, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?PREMATURE OVARIAN FAILURE 10, WARBURG MICRO SYNDROME 4, NEPHRONOPHTHISIS 18, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, ATRIAL SEPTAL DEFECT 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, SPINOCEREBELLAR ATAXIA 8, IMMUNODEFICIENCY, COMMON VARIABLE, 13, MYOPATHY, MYOFIBRILLAR, 4, HYPOTRICHOSIS 12, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, MEIER-GORLIN SYNDROME 2, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 52, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, [GILBERT SYNDROME], ADAMS-OLIVER SYNDROME 2, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MYOPIA 6, PARKINSON DISEASE 6, EARLY ONSET, MYASTHENIC SYNDROME, CONGENITAL, 16, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, MUCOLIPIDOSIS III ALPHA/BETA, HYPERLYSINEMIA, VAN MALDERGEM SYNDROME 2, RETINITIS PIGMENTOSA 20, DEAFNESS, AUTOSOMAL DOMINANT 36, TREACHER COLLINS SYNDROME 1, SMITH-MAGENIS SYNDROME, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, THROMBOCYTHEMIA 2, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT, DEAFNESS, AUTOSOMAL RECESSIVE 6, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, TARP SYNDROME, MAY-HEGGLIN ANOMALY, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ECTOPIA LENTIS ET PUPILLAE, HYPOURICEMIA, RENAL, 2, {URIC ACID CONCENTRATION, SERUM, QTL 2}, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, DEAFNESS, AUTOSOMAL DOMINANT 13, ?PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2, ROIFMAN SYNDROME, UROFACIAL SYNDROME 1, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1E, AUTOSOMAL RECESSIVE, ALBINISM, OCULOCUTANEOUS, TYPE VII, ANEMIA, SIDEROBLASTIC, 1, JERVELL AND LANGE-NIELSEN SYNDROME 2, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, SPERMATOGENIC FAILURE 5, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 20, EPISODIC PAIN SYNDROME, FAMILIAL, FRONTOTEMPORAL DEMENTIA, COLE DISEASE, PARKINSON DISEASE 21, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, POROKERATOSIS 3, MULTIPLE TYPES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ?RETINITIS PIGMENTOSA 67, CEROID LIPOFUSCINOSIS, NEURONAL, 2, PERRAULT SYNDROME 1, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?CATARACT 43, BONE MARROW FAILURE SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, SILVER-RUSSELL SYNDROME, COMPLEMENT FACTOR D DEFICIENCY, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, DEAFNESS, AUTOSOMAL DOMINANT 23, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, SALLA DISEASE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, ?MICROPHTHALMIA, SYNDROMIC 13, ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, MICROPHTHALMIA, ISOLATED 6, AMYOTROPHIC LATERAL SCLEROSIS 11, ALBINISM, OCULOCUTANEOUS, TYPE III, ?REYNOLDS SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TOOTH AGENESIS, SELECTIVE, 7, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, RETINITIS PIGMENTOSA 58, MYXOMA, INTRACARDIAC, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, TYROSINEMIA, TYPE III, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, DEAFNESS, AUTOSOMAL RECESSIVE 37, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, HEMOCHROMATOSIS, TYPE 2A, ?POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL, 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, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKOENCEPHALOPATHY WITH ATAXIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, C SYNDROME, CARDIOMYOPATHY, DILATED, 1E, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, DIAMOND-BLACKFAN ANEMIA 8, CARDIOMYOPATHY, HYPERTROPHIC, 12, ?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, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, PRIMARY PULMONARY HYPERTENSION, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, IMMUNODEFICIENCY 19, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, COFFIN-SIRIS SYNDROME 3, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, ACNE INVERSA, FAMILIAL, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, NEUROFIBROMATOSIS, FAMILIAL SPINAL, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ACHONDROGENESIS IB, ?DEAFNESS, AUTOSOMAL RECESSIVE 104, CYLINDROMATOSIS, FAMILIAL, MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6, EPIDERMAL NEVUS, HYPOMAGNESEMIA 6, RENAL, VAN DEN ENDE-GUPTA SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ?FEBRILE SEIZURES, FAMILIAL, 4, 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}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?OROFACIAL CLEFT 15, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, ?IMMUNODEFICIENCY 25, EVEN-PLUS SYNDROME, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, [GLYCEROL QUANTITATIVE TRAIT LOCUS], [BONE MINERAL DENSITY VARIABILITY 1], MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, CRYPTORCHIDISM, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, 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, KOHLSCHUTTER-TONZ SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, MECKEL SYNDROME 1, ?MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE, 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, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, SPONDYLOPERIPHERAL DYSPLASIA, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, OROFACIODIGITAL SYNDROME VI, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, DYSTONIA 25, ALAZAMI SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE, IMMUNODEFICIENCY 23, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, MICROPHTHALMIA, ISOLATED 8, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, TRABOULSI SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ?IMMUNODEFICIENCY 13, PENDRED'S SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, HYALINE FIBROMATOSIS SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CILIARY DYSKINESIA, PRIMARY, 26, CARDIOMYOPATHY, DILATED, 1LL, LEFT VENTRICULAR NONCOMPACTION 8, CILIARY DYSKINESIA, PRIMARY, 23, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, [SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN], ALBINISM, OCULOCUTANEOUS, TYPE VI, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, GITELMAN SYNDROME, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, 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, NEMALINE MYOPATHY 10, ?RETINITIS PIGMENTOSA 51, KLIPPEL-FEIL SYNDROME 2, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, FUHRMANN SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, 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, ATRIAL FIBRILLATION, FAMILIAL, 6, 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, HEMOCHROMATOSIS, TYPE 3, DEAFNESS , AUTOSOMAL RECESSIVE 86, HETEROTAXY, VISCERAL, 7, AUTOSOMAL, CHONDROCALCINOSIS 2, HERMANSKY-PUDLAK SYNDROME 7, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, BARDET-BIEDL SYNDROME 10, OSTEOGENESIS IMPERFECTA, TYPE V, IMMUNODEFICIENCY 15, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ?EXUDATIVE VITREORETINOPATHY 6, USHER SYNDROME, TYPE 1B, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39, PEUTZ-JEGHERS SYNDROME, NEPHROTIC SYNDROME, TYPE 9, 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, THYROID DYSHORMONOGENESIS 3, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, TRICHODONTOOSSEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, 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, ?ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3, CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT, KAUFMAN OCULOCEREBROFACIAL SYNDROME, MENTAL RETARDATION, X-LINKED 93, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, LEBER CONGENITAL AMAUROSIS 9, ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, MEESMANN CORNEAL DYSTROPHY, MICROPHTHALMIA, SYNDROMIC 14, ?MENTAL RETARDATION, X-LINKED 91, JOUBERT SYNDROME 8, 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, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), OPSISMODYSPLASIA, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, MEVALONIC ACIDURIA, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?CATARACT 41, MOYAMOYA 6 WITH ACHALASIA, ATRIAL STANDSTILL 2, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, ?HYDROLETHALUS SYNDROME 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, CD8 DEFICIENCY, FAMILIAL, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, RETINITIS PIGMENTOSA 64, CONE-ROD DYSTROPHY 16, POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE, TROYER SYNDROME, FOVEAL HYPOPLASIA 1, PARKINSONISM-DYSTONIA, INFANTILE, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, ?SPINOCEREBELLAR ATAXIA 40, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, AURICULOCONDYLAR SYNDROME 2, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, LIMB-MAMMARY SYNDROME, PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE, MECKEL SYNDROME 6, KRABBE DISEASE, ATYPICAL, 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, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 2}, ATRIAL FIBRILLATION, FAMILIAL, 7, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 10, SERKAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, CRANIOECTODERMAL DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, TOOTH AGENESIS, SELECTIVE, 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, COHEN SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, RETINITIS PIGMENTOSA 56, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, GLYCOGEN STORAGE DISEASE IXC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, BANNAYAN-RILEY-RUVALCABA SYNDROME, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, MACULAR DYSTROPHY, VITELLIFORM, 5, PARKINSON DISEASE, JUVENILE, TYPE 2, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, CARDIOMYOPATHY, DILATED, 1JJ, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], LEIGH SYNDROME, FRENCH-CANADIAN TYPE, AMELOGENESIS IMPERFECTA, TYPE IC, DEAFNESS, AUTOSOMAL RECESSIVE 70, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HYPOMAGNESEMIA 1, INTESTINAL, BORJESON-FORSSMAN-LEHMANN SYNDROME, PROUD SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, FEBRILE SEIZURES, FAMILIAL, 3B, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 7, IMMUNODEFICIENCY, COMMON VARIABLE, 2, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, SPERMATOGENIC FAILURE 9, CHILBLAIN LUPUS, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, GALACTOSE EPIMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, SPERMATOGENIC FAILURE 11, 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, EPILEPSY, PROGRESSIVE MYOCLONIC 1A (UNVERRICHT AND LUNDBORG), COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, [BLOOD GROUP, LUTHERAN NULL], NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, 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, IMMUNODEFICIENCY 42, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, BARTTER SYNDROME, TYPE 3, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ATRIOVENTRICULAR SEPTAL DEFECT 5, {PARKINSON DISEASE 17}, ?MECKEL SYNDROME 8, RENAL ADYSPLASIA, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, 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, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, 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, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, ACROCAPITOFEMORAL DYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MOHR-TRANEBJAERG SYNDROME, SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, EXUDATIVE VITREORETINOPATHY 2, X-LINKED, KEPPEN-LUBINSKY SYNDROME, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?FACIAL CLEFTING, OBLIQUE, 1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CILIARY DYSKINESIA, PRIMARY, 19, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, STAR SYNDROME, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HETEROTAXY, VISCERAL, 5, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SPINOCEREBELLAR ATAXIA 5, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, SPINOCEREBELLAR ATAXIA 7, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, ?RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES, LIEBENBERG SYNDROME, LYSINURIC PROTEIN INTOLERANCE, ?CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, ATRIAL FIBRILLATION, FAMILIAL, 11, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, BARAITSER-WINTER SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, EPISODIC PAIN SYNDROME, FAMILIAL, 3, DYSTONIA 6, TORSION, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CATARACT 18, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, AGAMMAGLOBULINEMIA, X-LINKED 1, JOUBERT SYNDROME 17, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, GLUCOSE/GALACTOSE MALABSORPTION, EPISODIC ATAXIA, TYPE 2, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, SYSTEMIC LUPUS ERYTHEMATOSUS 16, STROMME SYNDROME, ACNE INVERSA, FAMILIAL, 3, PETERS-PLUS SYNDROME, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, EPILEPSY, FAMILIAL TEMPORAL LOBE, 1, CALCIFICATION OF JOINTS AND ARTERIES, BARDET-BIEDL SYNDROME 16, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SMITH-LEMLI-OPITZ SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, 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, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, 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, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CILIARY DYSKINESIA, PRIMARY, 24, ALTERNATING HEMIPLEGIA OF CHILDHOOD, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, MIRROR MOVEMENTS 2, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS 16, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45, CILIARY DYSKINESIA, PRIMARY, 32, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, KEUTEL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, COUSIN SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, MANDIBULOACRAL DYSPLASIA, CILIARY DYSKINESIA, PRIMARY, 20, ?BARDET-BIEDL SYNDROME 15, HYPOMAGNESEMIA 2, RENAL, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 2A, NIEMANN-PICK DISEASE, TYPE A, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, RETINITIS PIGMENTOSA 1, GM1-GANGLIOSIDOSIS, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, POLYGLUCOSAN BODY MYOPATHY 2, PREMATURE OVARIAN FAILURE 8, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, ?BARDET-BIEDL SYNDROME 18, WHIM SYNDROME, 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, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, L-2-HYDROXYGLUTARIC ACIDURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, MACROCEPHALY/AUTISM SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, OSTEOGENESIS IMPERFECTA, TYPE XIII, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SPASTIC PARAPLEGIA 2, X-LINKED, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, 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, ?MYOFIBROMATOSIS, INFANTILE 2, 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, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, TYPE IV, [CHITOTRIOSIDASE DEFICIENCY], BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 8, AGAMMAGLOBULINEMIA 6, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, ?RETINITIS PIGMENTOSA 9, WILMS TUMOR 2, GLYCOGEN STORAGE DISEASE X, 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), EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, ?SPASTIC PARAPLEGIA 63, ALEXANDER DISEASE, CATARACT 21, MULTIPLE TYPES, HEMOCHROMATOSIS, TYPE 4, PROPERDIN DEFICIENCY, X-LINKED, SILVER SPASTIC PARAPLEGIA SYNDROME, TREACHER COLLINS SYNDROME 3, SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 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, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, NANOPHTHALMOS 4, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, CILIARY DYSKINESIA, PRIMARY, 2, DIAMOND-BLACKFAN ANEMIA 7, CONE DYSTROPHY 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, HAWKINSINURIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, DOWLING-DEGOS DISEASE 4, ?BLEEDING DISORDER, PLATELET-TYPE, 18, ?MENTAL RETARDATION, X-LINKED 101, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, ?GLYCOGEN STORAGE DISEASE XIII, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, TEMTAMY SYNDROME, RIGHT ATRIAL ISOMERISM, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, NONAKA MYOPATHY, MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE, EARLY ONSET, ARTHROGRYPOSIS, DISTAL, TYPE 5, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ?NARCOLEPSY 7, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, DEAFNESS, AUTOSOMAL RECESSIVE 9, AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, AMYOTROPHIC LATERAL SCLEROSIS 20, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, 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, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, SELECTIVE T-CELL DEFECT, JOUBERT SYNDROME 9, DEAFNESS, AUTOSOMAL DOMINANT 5, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, PULMONARY VENOOCCLUSIVE DISEASE 1, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, COLE-CARPENTER SYNDROME 2, DYSTONIA-11, MYOCLONIC, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, 3-METHYLGLUTACONIC ACIDURIA, TYPE III, 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}, CATSHL SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, AMELOGENESIS IMPERFECTA, TYPE 1E, MACULAR DYSTROPHY, NORTH CAROLINA TYPE, PERIODONTITIS 1, JUVENILE, POROKERATOSIS 7, MULTIPLE TYPES, DIAMOND-BLACKFAN ANEMIA 5, BOUCHER-NEUHAUSER SYNDROME, CONE-ROD DYSTROPHY 11, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, 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, BILE ACID MALABSORPTION, PRIMARY, MUCKLE-WELLS SYNDROME, NEPHROPATHY DUE TO CFHR5 DEFICIENCY, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, DYSTONIA 9, HAIM-MUNK SYNDROME, NATIVE AMERICAN MYOPATHY, MACULAR DYSTROPHY, RETINAL, 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ATRIAL FIBRILLATION, FAMILIAL, 3, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, HELSMOORTEL-VAN DER AA SYNDROME, MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE, COENZYME Q10 DEFICIENCY, PRIMARY, 4, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8, BECKWITH-WIEDEMANN SYNDROME, RETINITIS PIGMENTOSA 45, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, LIPOYLTRANSFERASE 1 DEFICIENCY, LANGER MESOMELIC DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, SPHEROCYTOSIS, TYPE 4, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ?MARDEN-WALKER SYNDROME, FEINGOLD SYNDROME 2, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CEREBROOCULOFACIOSKELETAL SYNDROME 4, DEAFNESS, AUTOSOMAL DOMINANT 9, PEROXISOME BIOGENESIS DISORDER 14B, IMMUNODEFICIENCY 44, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, BRUNNER SYNDROME, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, CORNELIA DE LANGE SYNDROME 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, OVARIAN HYPERSTIMULATION SYNDROME, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY, ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CHOREOACANTHOCYTOSIS, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HARTNUP DISORDER, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, EPILEPSY, PYRIDOXINE-DEPENDENT, ?PEELING SKIN SYNDROME 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, FRONTONASAL DYSPLASIA 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WELANDER DISTAL MYOPATHY, ?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, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ARTS SYNDROME, GM2-GANGLIOSIDOSIS, AB VARIANT, HOLOPROSENCEPHALY-9, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WEILL-MARCHESANI-LIKE SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ANGIOEDEMA, HEREDITARY, TYPE III, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, ?SPERMATOGENIC FAILURE 13, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, ?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, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?HIP DYSPLASIA, BEUKES TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9, 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, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, BARTTER SYNDROME, TYPE 4B, DIGENIC, BARDET-BIEDL SYNDROME 17, MULTIPLE ENDOCRINE NEOPLASIA 1, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CILIARY DYSKINESIA, PRIMARY, 18, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, TRIMETHYLAMINURIA, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, HYPERALDOSTERONISM, FAMILIAL, TYPE III, JOUBERT SYNDROME 13, TYROSINEMIA, TYPE I, NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, 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, ?MICROHYDRANENCEPHALY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, PLEUROPULMONARY BLASTOMA, DOWLING-DEGOS DISEASE 2, DEAFNESS, X-LINKED 2, PLASMA TRIGLYCERIDE LEVEL QTL, LOW, CPT DEFICIENCY, HEPATIC, TYPE IA, MUSCULAR DYSTROPHY, RIGID SPINE, 1, MACULAR DYSTROPHY, VITELLIFORM, 4, COENZYME Q10 DEFICIENCY, PRIMARY, 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, GAUCHER DISEASE, TYPE II, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, ROUSSY-LEVY SYNDROME, LEUKEMIA, CHRONIC MYELOID, SOMATIC, 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, THYROID DYSHORMONOGENESIS 1, CATARACT 9, MULTIPLE TYPES, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, DYGGVE-MELCHIOR-CLAUSEN DISEASE, LIVER FAILURE, TRANSIENT INFANTILE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, PONTOCEREBELLAR HYPOPLASIA TYPE 2A, HYPOMYELINATION, GLOBAL CEREBRAL, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, SCHOPF-SCHULZ-PASSARGE SYNDROME, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, BRACHYOLMIA TYPE 3, ?FANCONI RENOTUBULAR SYNDROME 3, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, CARDIOMYOPATHY, DILATED, 1CC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, EXOSTOSES, MULTIPLE, TYPE 2, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ?NARCOLEPSY 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ANEMIA, SIDEROBLASTIC, 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, {WILMS TUMOR SUSCEPTIBILITY-5}, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, AMELOGENESIS IMPERFECTA, TYPE IF, FACTOR XIIIB DEFICIENCY, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, RETINITIS PIGMENTOSA 27, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, NEPHROLITHIASIS, TYPE I, MECKEL SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, VACTERL ASSOCIATION, X-LINKED, DYSTONIA-PARKINSONISM, X-LINKED, PREGNANCY LOSS, RECURRENT, 4, SPERMATOGENIC FAILURE 4, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, ARTERIAL TORTUOSITY SYNDROME, WAARDENBURG SYNDROME, TYPE 2D, ATRIAL SEPTAL DEFECT 6, POLYMORPHOUS CORNEAL DYSTROPHY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, ?OTOFACIOCERVICAL SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NEPHROTIC SYNDROME, TYPE 11, 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, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ARTHROGRYPOSIS, DISTAL, TYPE 5D, FUCOSIDOSIS, 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, CHOREA, HEREDITARY BENIGN, PARKINSON DISEASE 20, EARLY-ONSET, CATARACT 22, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H, MECKEL SYNDROME 11, DEAFNESS, AUTOSOMAL RECESSIVE 63, FOLATE MALABSORPTION, HEREDITARY, RETICULATE ACROPIGMENTATION OF KITAMURA, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, PANCREATIC AND CEREBELLAR AGENESIS, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, TOOTH AGENESIS, SELECTIVE, 4, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, AICARDI-GOUTIERES SYNDROME 2, CYANOSIS, TRANSIENT NEONATAL, BROOKE-SPIEGLER SYNDROME, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, NIEMANN-PICK DISEASE, TYPE C2, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LONG QT SYNDROME 14, USHER SYNDROME, TYPE 2D, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, CYSTINOSIS, OCULAR NONNEPHROPATHIC, MYELOPEROXIDASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CEREBRAL AMYLOID ANGIOPATHY, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, SADDAN, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, RIDDLE SYNDROME, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, SHWACHMAN-DIAMOND SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, OPTIC ATROPHY PLUS SYNDROME, HYPEROXALURIA, PRIMARY, TYPE II, LACTASE DEFICIENCY, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CLEFT PALATE, ISOLATED, RENAL GLUCOSURIA, EXOSTOSES, MULTIPLE, TYPE 1, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, DIGEORGE SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, SPINOCEREBELLAR ATAXIA 31, MEIER-GORLIN SYNDROME 3, HYPERTENSION AND BRACHYDACTYLY SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, AVASCULAR NECROSIS OF THE FEMORAL HEAD, PARIETAL FORAMINA 2, HYDATIDIFORM MOLE, RECURRENT, 2, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, EPISODIC PAIN SYNDROME, FAMILIAL, 2, DEAFNESS, AUTOSOMAL DOMINANT 64, DESBUQUOIS DYSPLASIA 2, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, CILIARY DYSKINESIA, PRIMARY, 28, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION, CHOPS SYNDROME, ?HYPOTRICHOSIS 13, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?SPONDYLOCOSTAL DYSOSTOSIS 6, HYPOTRICHOSIS 8, AORTIC ANEURYSM, FAMILIAL THORACIC 6, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, CARDIOMYOPATHY, HYPERTROPHIC, 11, MACULAR DEGENERATION, X-LINKED ATROPHIC, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, C1Q DEFICIENCY, SIALIC ACID STORAGE DISORDER, INFANTILE, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED 97, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8, {VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, COMPLEMENT FACTOR I DEFICIENCY, PAPILLARY THYROID CARCINOMA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, CONGENITAL SHORT BOWEL SYNDROME, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, AICARDI-GOUTIERES SYNDROME 6, RETINITIS PIGMENTOSA 7 AND DIGENIC, RETINITIS PIGMENTOSA 7, DIGENIC, LEBER CONGENITAL AMAUROSIS 18, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, TUMOR PREDISPOSITION SYNDROME, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, PARIETAL FORAMINA 1, JOUBERT SYNDROME 20, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, NEUROCUTANEOUS MELANOSIS, SOMATIC, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, VAN DER WOUDE SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, LOEYS-DIETZ SYNDROME 4, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, ACROKERATOSIS VERRUCIFORMIS, RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, ADAMS-OLIVER SYNDROME 3, PERLMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, POPLITEAL PTERYGIUM SYNDROME 1, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SYNDACTYLY, TYPE IV, 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, EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, DENT DISEASE, DEJERINE-SOTTAS DISEASE, METACHROMATIC LEUKODYSTROPHY, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, 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, AORTIC VALVE DISEASE 2, ?MICROPHTHALMIA, SYNDROMIC 11, DEAFNESS, AUTOSOMAL RECESSIVE 68, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, JOHANSON-BLIZZARD SYNDROME, {MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1}, PRION DISEASE WITH PROTRACTED COURSE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, SPERMATOGENIC FAILURE, X-LINKED, 2, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MENTAL RETARDATION, X-LINKED SYNDROMIC 5, PAROXYSMAL EXTREME PAIN DISORDER, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, ALPORT SYNDROME, AUTOSOMAL DOMINANT, STUTTERING, FAMILIAL PERSISTENT, 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, BENT BONE DYSPLASIA SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, CILIARY DYSKINESIA, PRIMARY, 21, USHER SYNDROME TYPE 3B, CAPOS SYNDROME, OOCYTE MATURATION DEFECT 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RETINAL CONE DYSTROPHY 3B, DEAFNESS, AUTOSOMAL RECESSIVE 18B, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, DIAMOND-BLACKFAN ANEMIA 6, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, EPIDERMOLYTIC HYPERKERATOSIS, GLUTAMINE DEFICIENCY, CONGENITAL, SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HYPOPLASTIC LEFT HEART SYNDROME 2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, CHYLOMICRON RETENTION DISEASE, SCLEROSTEOSIS 2, STIFF SKIN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, {GLIOBLASTOMA 3}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, AXENFELD-RIEGER SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL RECESSIVE 42, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, MACULAR DYSTROPHY, PATTERNED, 1, SENIOR-LOKEN SYNDROME 6, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, JERVELL AND LANGE-NIELSEN SYNDROME 1, {PSORIASIS SUSCEPTIBILITY 1}, ?DEAFNESS, AUTOSOMAL DOMINANT 4B, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, WOLFRAM SYNDROME 2, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, MILLER SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 29, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, {AUTISM SUSCEPTIBILITY, X-LINKED 2}, MENTAL RETARDATION, X-LINKED, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, LEFT VENTRICULAR NONCOMPACTION 7, 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, CRYOHYDROCYTOSIS, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PREMATURE OVARIAN FAILURE 9, JOUBERT SYNDROME 14, VICI SYNDROME, COFFIN-SIRIS SYNDROME 2, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, SPERMATOGENIC FAILURE 3, NIEMANN-PICK DISEASE, TYPE B, {?OBESITY, SUSCEPTIBILITY TO, BMIQ18}, INTRINSIC FACTOR DEFICIENCY, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, CORNELIA DE LANGE SYNDROME 1, {EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO}, {EPILEPSY, IDIOPATHIC GENERALIZED, 10}, FISH-EYE DISEASE, 5-OXOPROLINASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, CARDIOMYOPATHY, HYPERTROPHIC, 25, DIAMOND-BLACKFAN ANEMIA 10, PELIZAEUS-MERZBACHER DISEASE, TYLOSIS WITH ESOPHAGEAL CANCER, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 17, LOEYS-DIETZ SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 21, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, SMITH-MCCORT DYSPLASIA 2, NEPHRONOPHTHISIS 15, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 5, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, MCKUSICK-KAUFMAN SYNDROME, LUSCAN-LUMISH SYNDROME, FACTOR VII DEFICIENCY, FAMILIAL MEDITERRANEAN FEVER, AD, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, BRACHYDACTYLY, TYPE A1, D, SMED STRUDWICK TYPE, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, FOVEAL HYPOPLASIA 2, WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS, ADAMS-OLIVER SYNDROME 6, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, MASP2 DEFICIENCY, MYOCLONUS, FAMILIAL CORTICAL, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, BRUGADA SYNDROME 9, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE, MEIER-GORLIN SYNDROME 1, ?46XY SEX REVERSAL 5, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?RETINITIS PIGMENTOSA 66, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, SORSBY FUNDUS DYSTROPHY, ?JOUBERT SYNDROME 22, ATRIAL FIBRILLATION, FAMILIAL, 9, GELEOPHYSIC DYSPLASIA 1, MICROCEPHALY, AMISH TYPE, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, {EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1}, MASA SYNDROME, CRASH SYNDROME, BRACHYDACTYLY, TYPE B2, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, C4A DEFICIENCY, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HUNTINGTON DISEASE-LIKE 2, METACARPAL 4-5 FUSION, BRACHYDACTYLY, TYPE B1, ACHROMATOPSIA 7, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, CARDIOMYOPATHY, HYPERTROPHIC, 7, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, NEMALINE MYOPATHY 9, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 6, CZECH DYSPLASIA, MANNOSIDOSIS, BETA, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MICROPHTHALMIA WITH COLOBOMA 5, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, MUCOLIPIDOSIS II ALPHA/BETA, CEREBROCOSTOMANDIBULAR SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, MUCOLIPIDOSIS III GAMMA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, MYOPATHY, MYOFIBRILLAR, 2, GLYCOGEN STORAGE DISEASE VI, VESICOURETERAL REFLUX 8, MYOPATHY, TUBULAR AGGREGATE, 1, ACNE INVERSA, FAMILIAL, 2, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, USHER SYNDROME, TYPE IJ, SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE, DEAFNESS, X-LINKED 4, DESANTO-SHINAWI SYNDROME, ?HYPERPROLACTINEMIA, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, COENZYME Q10 DEFICIENCY, PRIMARY, 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BURN-MCKEOWN SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, PSEUDOHYPOPARATHYROIDISM IC, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, CHIME SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, {THIOPURINES, POOR METABOLISM OF, 2}, DEAFNESS, AUTOSOMAL RECESSIVE 23, CORNEAL OPACIFICATION AND OTHER OCULAR ANOMALIES, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, PULMONARY HYPERTENSION, PRIMARY, 2, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, DU PAN SYNDROME, 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, DIGITAL CLUBBING, ISOLATED CONGENITAL, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, METHEMOGLOBINEMIA, TYPE IV, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, ATRIAL FIBRILLATION, FAMILIAL, 14, HYPERFERRITINEMIA-CATARACT SYNDROME, PYRUVATE KINASE DEFICIENCY, LUJAN-FRYNS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ?TRICHOTILLOMANIA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, BLEEDING DISORDER, PLATELET-TYPE, 15, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, EPILEPSY, NOCTURNAL FRONTAL LOBE, 5, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, PSORIASIS 2, MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, VITREORETINOCHOROIDOPATHY, TIETZ ALBINISM-DEAFNESS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, 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, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, SOTOS SYNDROME 2, SPLIT-HAND/FOOT MALFORMATION 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, TENORIO SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ETHYLMALONIC ENCEPHALOPATHY, MUCOPOLYSACCHARIDOSIS IS, 3MC SYNDROME 2, SHORT QT SYNDROME 2, AMELOGENESIS IMPERFECTA, TYPE IIA4, ?DEAFNESS, X-LINKED 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, SHPRINTZEN-GOLDBERG SYNDROME, TREMOR, HEREDITARY ESSENTIAL, 4, HAILEY-HAILEY DISEASE, 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, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, 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, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, LYMPHOPROLIFERATIVE SYNDROME 1, KNIEST DYSPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, MENTAL RETARDATION, X-LINKED 21/34, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, CALCIUM OXALATE UROLITHIASIS, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, OPTIC ATROPHY 7, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, IMMUNODEFICIENCY 8, SECKEL SYNDROME 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MYOPIA 22, AUTOSOMAL DOMINANT, ENCEPHALOPATHY, NEONATAL SEVERE, 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, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, CONE-ROD DYSTROPHY 10, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, MALONYL-COA DECARBOXYLASE DEFICIENCY, KABUKI SYNDROME 1, MYOPATHY DUE TO CPT II DEFICIENCY, ?HYPOTRICHOSIS AND RECURRENT SKIN VESICLES, NEPHROTIC SYNDROME, TYPE 6, INTERSTITIAL NEPHRITIS, KARYOMEGALIC, {OROFACIAL CLEFT 6}, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, {OSTEOARTHRITIS SUSCEPTIBILITY 3}, WOLCOTT-RALLISON SYNDROME, MONILETHRIX, ?MONILETHRIX, LEUKOCYTE ADHESION DEFICIENCY, HEMOPHILIA B, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 30, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATASIA, CHILDHOOD, RETINITIS PIGMENTOSA 42, ANDERSEN SYNDROME, MEGALOCORNEA 1, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, PAGET DISEASE OF BONE 3, MENTAL RETARDATION, X-LINKED 58, DEAFNESS, AUTOSOMAL RECESSIVE 84A, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, DEAFNESS, AUTOSOMAL RECESSIVE 93, THROMBOCYTOPENIA 4, LERI-WEILL DYSCHONDROSTEOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, UTERINE LEIOMYOMA, 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, 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, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, ALPHA-METHYLACETOACETIC ACIDURIA, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, ?MYOPATHY, SCAPULOHUMEROPERONEAL, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: LSS, TCF12, TSC2, COL27A1, MSH6, CRIPT, VARS2, UROD, GPT2, SIX6, GP1BA, AGRP, NR2F2, RPL5, FTL, PRIMPOL, ENPP1, POLD1, ADAMTS18, LRRK2, SOX2, ALG3, SEMA4A, UNC45B, TRIOBP, CHD8, EGR2, PTRH2, PAH, SLC6A8, GAS8, FREM1, COG6, VCAN, AMBN, MS4A1, OCRL, DNAI2, VAX1, CYP7B1, SLC16A12, FRAS1, MYO18B, DNASE1L3, GATM, CLRN1, GCSH, ARHGEF10, LRIT3, JPH2, RASA1, MYOC, APOA1, FSHR, MTTP, ENO3, CD79A, PAXIP1, C2, DAG1, SNCB, ANTXR2, CITED2, MARS2, SCP2, IRAK3, ZNF141, NR1I3, SPARC, C1QTNF5, SPEG, C2CD3, MIB1, ITPR1, GALNT3, SSR4, HCN1, EFTUD2, RPS10, GUSB, LARS2, PGAM2, LOXHD1, MLPH, CP, ZNF81, ALDOA, PRKRA, PAX1, IL2RA, GRIN2A, IGLL1, YAP1, RAB3GAP2, DVL3, UFSP2, PDYN, MMP20, CEP290, NDUFAF2, FOXC1, CASP10, CTDP1, NDUFS7, GLDC, SLC40A1, HES7, CCDC28B, CENPE, AXIN1, WDR62, TINF2, TANGO2, L2HGDH, ABCB4, AGPS, IMPG2, CNGB1, A2M, IL1B, AARS, HOXA11, VPS35, FAR1, XRCC4, CALCR, TRIP4, NANOS1, ADK, IFT122, PARK7, HMBS, CUL4B, LRP5, HINT1, HNRNPK, LAMC2, NPHP1, PCDH15, PDE4D, RPL21, HPD, DICER1, TENM3, P2RY12, CCDC65, SYNJ1, FOXRED1, TFAP2B, SCARF2, COL4A3, RTN2, EHHADH, DNASE1, FCGR3A, SLC26A5, FH, KCNB1, AMT, AKR1D1, GHRL, FANCL, HLA-C, ATXN3, ATP7A, IVD, CSRP3, KRT14, DPM2, IQSEC2, SPTB, MC4R, NEFH, GCH1, ACTG2, NDUFS2, CCBE1, CTNNA1, PEX14, SEC23A, CYBA, IRX5, TRAIP, LRRC6, AURKC, NAA10, SBF2, DDC, CRYBB3, RAI1, MT-ND5, KIF2A, SFTPA1, ST3GAL3, CYLD, THAP1, VPS37A, AKR1C2, TSR2, CDK4, TSG101, TAF4B, TRPM6, FEZF1, DNAH8, ROBO3, NBN, FADD, MGP, PRF1, ERBB2, USH1C, MT-TL1, PET100, ABHD12, CD81, CYB5R3, COL9A1, SLC33A1, CSF2RB, TNNT3, ALDOB, PIGM, SLC17A8, SHOC2, PYGL, IL12B, MUTYH, MYCN, POC1B, AP1S2, C12orf57, CYB5A, HGD, EPX, FZD4, POC1A, SGCG, EXOSC8, RPS24, SEMA3D, POFUT1, ACTA2, KAT6B, DRC1, MEN1, GMPPB, GDNF, STAC3, KLK4, LMAN2L, PRICKLE1, GIPC3, ARID1B, PRKCSH, GPHN, CRYBA2, KAT6A, NOBOX, AASS, FBXO31, BBS12, DLAT, ALPL, NDUFB3, DNAJB6, FLT4, UBR1, MYT1L, GRXCR2, NIN, ALDH3A2, CCDC8, DMGDH, DHTKD1, PCSK1, ATXN1, KARS, TSEN54, SOX18, SLC52A1, LHX4, SFTPB, NIPA1, FREM2, GCLC, ATP13A2, CEP19, ARHGAP11A, ITGA6, BCR, DDX41, UQCC2, DYRK1A, AIMP1, XPR1, TRAC, ZC4H2, AQP2, SDHA, NTRK1, IFNAR2, HYLS1, TSHR, MFSD2A, DRD3, IDS, F13B, IFT43, SMIM1, TUBA4A, CACNA1C, RFX5, COL6A3, ADCK4, PMVK, CCDC174, MT-TQ, PEX10, CHRNA2, PCSK9, DUOXA2, CHRNB1, FOXF1, ISPD, PMPCA, CD8A, EMC1, CFC1, ADGRE2, PDX1, SOD1, DDX59, F2, LAMA1, CEP120, ISCU, MED13L, STT3B, LCT, ADSL, MT-ND6, FAS, SERPINB6, FUT2, IKBKG, NRXN1, NDUFA1, KRT25, VPS53, MTHFR, AK2, DNAAF3, SNCA, OTOGL, FAM175A, CDH1, CLDN1, MED25, VPS13B, FRZB, STK11, FGF17, OPLAH, FMR1, NDRG1, TTC19, MBL2, PNPLA2, ATP2B3, NOP56, CACNA1B, ALAD, UGT1A4, BMPER, KCNQ2, ST14, KIAA1033, ABCB6, NF1, BMS1, ACTA1, GJA3, PABPN1, GRIP1, SPATA16, NT5C2, SMARCA4, HTR1A, FAM177A1, IL31RA, NDUFAF6, COQ4, FAM134B, GJB3, ARMC4, NCSTN, IGF2, NOS3, HMX1, CCND1, SLC2A9, SYT14, ADCK3, SH3BP2, NSD1, HEXA, KHDC3L, PLOD3, KDM5C, NLGN4X, CRLF1, ACAD9, EBP, GMPPA, TALDO1, GLIS3, TUBB1, ABCG8, DPYD, ZNF644, GUCY2C, CENPJ, CASQ1, MFRP, COX14, PANK2, ACVR1, HAO1, CDON, PGAP2, TPO, ATL1, CALM2, DDX3X, GNMT, TNPO3, CNTN5, KIAA0586, SLC22A5, PAX2, ZNF469, NAT8L, OTX2, SLC9A6, LEMD3, KATNB1, ITGB2, CNNM2, KCNMA1, FHL1, FOXC2, DDHD1, FBN1, PEX19, USP9X, PPP2R5D, IHH, EIF2B2, DNAAF5, CA8, STXBP1, FGFR3, POLG2, STAT2, SOX10, GABRG2, ALAS2, FAH, NRAS, THOC2, DSPP, PRKCD, RHBDF2, ADAT3, SPECC1L, DPM1, B9D1, KLC2, NR5A1, TNFAIP3, PRPF4, GFRA1, AP3B1, KIF22, ERCC4, UPK3A, HFM1, TCF4, PEPD, KCNE2, PGAP3, RBCK1, PDE10A, WDR19, KCTD1, FASTKD2, FOXD3, PIP5K1C, PLOD2, PIGG, COL18A1, MAN1B1, VAMP1, EDNRB, COQ6, ACTN2, MTR, SFTPC, AGPAT2, PSPH, SLC25A12, CD46, ATXN7, PRDM8, MPV17, HLCS, CD96, PAPSS2, KISS1, ICK, HMCN1, ACOX1, SLC52A3, SRD5A3, NDUFA11, GDF6, ERCC1, COL9A2, MLH1, IRF7, AGTR1, PHYH, GAN, DSG1, PGK1, DDR2, RYR2, MARVELD2, AICDA, PRPS1, BMP4, SLC24A1, FANCA, PDLIM4, SUFU, ALG2, SCN8A, ZMYND15, ROM1, ERCC2, CCDC50, COL13A1, RFX6, RSPH1, LTBP3, CD40, OPA3, NDUFB9, CNTNAP1, SETD2, ATP6V0A2, TGDS, RAF1, OSBPL2, CHD7, MEOX1, SETD5, TNFRSF13C, CCDC170, P3H2, DNAJC5, TNC, WRN, ETV6, GLUL, AIPL1, DNAL1, LYRM7, LHX3, BCKDHA, DHDDS, ABCB7, PRX, CD40LG, RELN, CHRNA4, OFD1, TGFBR1, EP300, PSEN2, AGBL1, GCDH, TNFRSF4, UBB, POMT2, NOTCH3, BBS9, ABCA5, ADAMTSL4, DTNBP1, DCHS1, CACNA2D4, JAM3, GDF2, CEP83, MYL3, PLIN1, TNFRSF13B, TTR, WNT7A, TTC21B, RAD54L, SLC7A9, SFXN4, MRPS16, MC2R, IGFBP7, RAB33B, NUP155, HSD3B2, KRT81, KRAS, ELANE, TSPAN12, C19orf12, SLC25A26, CFTR, TAF2, ZNF711, SLC25A4, HMGA2, HOXD10, KANK2, RAG1, SLC10A2, NUP93, CALR3, PSAT1, ARL13B, SYP, SLC12A5, CHRM3, PI4KA, GAA, LYRM4, EPOR, GLE1, TMPRSS6, FZD6, CRYGC, COL25A1, ASL, CEP41, MEGF10, TRAPPC11, PLEKHG2, SPG11, KCNA2, BRF1, PALB2, STX1B, SOBP, GRHL2, INSR, STAP1, KIAA0196, SCN9A, ARID1A, SERPINH1, RNASET2, MSH2, C10orf2, CD3G, GLA, PMS2, STIL, TACO1, PLA2G6, POLR2F, EXOSC3, WDR45, DNAJC3, FAT3, MIR96, NR0B2, NHP2, CHKB, DCAF17, MTRR, SLC22A18, NDUFA10, RNASEH2B, LRPAP1, HBB, CLMP, TCTN3, LMNA, BCKDHB, ACADS, MID1, NALCN, CIITA, CR2, YARS2, IKZF1, SORL1, SPG21, RBBP8, KIF11, RNASEH2C, TRMT10A, UBA1, NSDHL, KCNH2, MYH14, KDM6A, NECTIN4, PTPN14, SLC35D1, APOPT1, LRAT, RAB7A, JPH1, TRIM32, G6PC, WNK1, ASPM, GFI1B, PEX2, KRT3, HPSE2, LARGE1, EFNB1, LIPT1, MECOM, TECTA, MBD5, EVC, VLDLR, F7, RAX, IL1RN, SIK1, AXIN2, CDKN3, KCTD17, ANLN, PAX4, KIF21A, THRA, TNNI2, C5, CABP2, MTOR, ASAH1, BLK, LEP, OPHN1, PIK3CD, CD27, AIFM1, DSP, SMARCE1, NTHL1, AP2S1, TNNT1, AAAS, SGSH, RSPH3, MKKS, STEAP3, HYDIN, SLC24A4, MAG, SMAD9, NKX3-2, SNAP25, GNAS-AS1, XPNPEP3, ADAMTSL2, DEAF1, GAMT, ARG1, KCNC1, SEPT9, MT-CO1, TAB2, BANF1, NCF2, MGME1, HSPB3, CTNNB1, EDC3, LHFPL5, SMAD4, PIGY, DIS3L2, SRP72, IGHM, ITIH4, SLC6A5, C12orf65, KBTBD13, CLCN2, PPP2R1A, TUBB, TCTN1, NDUFA2, BBS7, RFXAP, RIPK4, INPPL1, AIP, RAD51, ALX3, NPHS1, GDAP1, TRMU, KRT86, GLI3, RECQL4, CSNK1D, CTNS, MT-TH, ARL6, ACTB, BGLAP, CD59, SPINK5, EIF4A3, TAC3, COX6A1, SMOC2, NLRP1, PER3, STAG3, GPIHBP1, GIF, TGM5, GNAO1, IGHMBP2, CYBB, HGSNAT, HABP2, PIGL, LAMA2, AP4M1, THBS4, EGLN1, RARS, PLCB1, MT-CO2, D2HGDH, PTPRQ, COL6A1, CAMTA1, TPK1, FTSJ1, CXCR4, FKTN, SEC23B, MMADHC, SNX14, DMXL2, GPX4, BDNF, SNRPB, RNF113A, CD36, SOX11, LRP6, HLA-DQB1, EXPH5, FMN2, TMEM43, NR0B1, PDSS2, NR3C1, IFT27, SDHB, MCM8, TAP2, SIGMAR1, ARMC5, POLR1D, ARHGDIA, APOB, TECPR2, CPT2, SPATA5, MFN2, KIF1C, TM4SF20, FERMT3, MOCS2, CHCHD10, KLHL3, B3GLCT, AP4B1, TMEM237, MRAP2, PDE11A, NPC1, HARS2, EMP2, MCCC2, TMEM231, ADGRG6, WNT10A, KCNA1, WT1, ST3GAL5, NDUFB11, PEX11B, NEK8, RFT1, CDT1, SPRTN, GALNS, DNAI1, SPAST, COL8A2, CYC1, MVD, NR2E3, ZNF408, PXDN, SF3B4, SERPING1, MCOLN1, ACAN, PEX26, HOXB1, SLC26A4, AP5Z1, TFAP2A, TMEM240, LOR, MPI, PDE8B, FAM58A, PURA, MC1R, IDH2, SLC19A3, DCXR, IL11RA, C4orf26, NDUFA12, LDHA, EDNRA, PRKAG2, MEF2C, C9orf72, POLG, HOXA13, CFAP53, NHS, MSX2, KIF5C, NLRP3, DLX4, CRYAB, CSPP1, JUP, PIKFYVE, OTOA, PRKG1, CACNA1A, EFHC1, SLC22A12, WDPCP, NLRC4, SLC6A17, RB1, BCAM, KCNK3, B4GALT7, ATF6, GCK, RNF170, STIM1, GRIN2B, SHH, ITGA8, VRK1, MT-ATP6, ADAR, BHLHE41, CBS, CTCF, GHR, SLC17A9, MCPH1, OR2J3, UBE3B, CLN6, COL4A4, SLC52A2, BMP2, FOXE3, HSD11B2, AKAP9, DRD2, PLP1, VDR, FIBP, PARK2, COQ9, EGFR, COG4, IKBKB, SCNN1G, ARL6IP1, C8orf37, SKI, UROS, UBQLN2, PSTPIP1, PRKCG, BVES, FARS2, NAGS, ABCB11, NME8, ESRRB, GUCY1A3, PPARGC1B, KIT, SCYL1, POLR3B, CLCF1, PEX1, BARD1, C21orf59, MTFMT, TPMT, MYBPC1, FBLN1, JAGN1, PNKD, ITGB4, MRPS22, TYMP, GNAL, KMT2D, DDX58, TACR3, ZFYVE26, TSC1, MAP3K1, DUOX2, ERMARD, CLPB, TYROBP, BLM, ACTN4, AMPD1, RBP3, PUS1, NDUFS6, POLR1C, AGA, SLC3A1, FTH1, PEX16, STRA6, TIA1, MSRB3, ADA, TIMP3, SMAD3, MTMR14, ALDH18A1, HSPG2, ESR1, HPGD, SERPINE1, SLC38A8, GATA2, ISCA2, DYRK1B, FECH, CRELD1, MMP2, CD3D, FSHB, PAFAH1B1, ATRX, NEFL, CYP27A1, ASPH, CYP11B2, RPS26, ATP6V1B2, AGT, IGKC, CTNNA3, PPP1R3A, KDM1A, MAGEL2, FOXI1, NPHP4, RPGRIP1L, SMN2, MANBA, SLC12A3, ALG1, IL21R, TNNI3K, BCOR, SEPSECS, PPP1R15B, RPL15, TH, COL10A1, LHB, KCND3, ABCD1, ACSL4, SPAG1, HNRNPA1, MTO1, PRPH2, SLITRK1, ECM1, PRKACG, TSPEAR, ESPN, B3GALT6, FANCD2, TMC1, TCOF1, MOG, GBE1, UROC1, ICOS, TWIST2, QDPR, LMBRD1, GPC3, NDUFAF4, PLCE1, MID2, NOTCH2, PARN, SORT1, CAD, IL21, ERCC6, SHANK3, SCNN1A, MT-TK, ACTN1, KRT1, GALT, GFPT1, DGUOK, DCX, PSMB8, DLX5, APTX, POGZ, CNNM4, LRSAM1, IMPAD1, PNPLA8, PFKM, EVC2, HMMR, TMEM173, IFNG, FGD4, CREBBP, CLDN16, RPS6KA3, TFG, SASS6, TMLHE, RPL26, DNM1L, MOCS1, SCN2B, KCNA5, FAM20C, CHMP2B, CD44, SETBP1, KIF14, KCNN4, C15orf41, WRAP53, SLC25A19, PITX3, LMX1B, TSFM, CRBN, CNTN1, SNTA1, VHL, CCT5, COL4A1, SMARCAL1, CLCN1, TBX5, SOX17, TPP1, FN1, NGF, ADAMTS2, TUBGCP6, METTL23, KERA, MYH2, PHGDH, DCTN1, HCCS, MTAP, ZBTB42, TERT, GRHPR, H19, DGKE, F13A1, SLC9A3R1, ALDH5A1, IDUA, SERPIND1, PLG, EHMT1, CPA6, PRDM12, CCNO, CHEK2, PUF60, PHKG2, SAG, RTN4IP1, JAK3, HADH, AFP, STAMBP, KITLG, IGBP1, ENTPD1, SOS1, BBS1, SCN5A, SLC1A4, C10orf11, ZBTB24, GBA, SUCLG1, SERPINA6, ACD, STRADA, SEPT12, ILDR1, GUCA1A, TMEM165, CRB2, KRT10, GPC6, ASNS, OCLN, VPS45, GRIK2, RSPO1, PRLR, C8B, NARS2, TMEM199, DHFR, MFSD8, CASK, RHAG, CWF19L1, FUCA1, MMP21, KLHL10, PRPH, ANKS6, SLC17A3, ACP5, SLC35A1, GLB1, SLC1A3, TGFBI, SLCO1B1, ACAT1, COL5A1, ARHGEF9, LIPN, KISS1R, TK2, DOCK2, MYLK2, CDKN2A, TENM4, NCF4, DHS6S1, S1PR2, TGM1, COX20, NDUFV2, SIX3, AFG3L2, COL4A2, CEP104, DHODH, AUH, POU1F1, ABCC2, ABHD5, PHOX2A, MATR3, FBXO7, RRM2B, CATSPER1, EXT1, MIR2861, TAF1, NLRP12, ZNF592, TUBA1A, FLCN, IDH1, GP1BB, LMNB1, SLC16A1, TPM3, DNAJB2, GARS, ARFGEF2, HELLS, CANT1, SPG20, AQP7, LONP1, POMGNT2, MPL, KCNV2, ALG10, TJP2, ZIC3, COX4I2, TUBG1, ASCL1, LIM2, MAOA, NUP107, SLC7A7, ITK, ADGRV1, VPS13C, GLUD1, MFAP5, PSENEN, SLC39A5, PAX8, VPS33B, QARS, EDN1, SLX4, BCPR, REN, VAPB, AHSG, WDR81, HNF4A, INF2, SGCA, KCNQ1OT1, MECP2, PDCD1, ATPAF2, DOK7, DNAJC6, ANKLE2, TG, MAK, BBS10, FGF20, KRT71, CCND2, CYP4V2, EXT2, RMND1, BRCA1, SRD5A2, LDLR, PIEZO1, TMEM126A, GABRA1, AMPD2, TBC1D7, MT-TS1, GATA6, LITAF, ARSB, IFT80, ADAM10, TBX15, SERPINA1, ACVRL1, PLN, PNPT1, ANGPTL3, LCK, CSF3R, NDUFAF1, NDE1, POLR3A, SMS, MAMLD1, MYOZ2, PMP22, PDHA1, SLC34A3, ANK2, PRKACA, CD19, TRPS1, POMC, BLVRA, TUSC3, ARHGAP26, CPS1, SLC25A32, PLCG2, DRD5, CDKN1B, WNT1, FGD1, DPAGT1, IRF6, PNP, DCC, FASLG, PGM3, PIGA, ASPN, COL4A3BP, STX16, ALOX12B, ATR, MMAA, HFE2, HPS1, PORCN, CORO1A, CALM1, RDH5, RPSA, APP, PITX1, RASGRP2, SPINT2, PIGW, CC2D2A, LBR, CUL3, TBXA2R, PTPN22, ATP6V1B1, LAMB1, KRIT1, POGLUT1, HNRNPDL, BBS5, SNRPE, SLC6A3, CDC6, PROS1, IL17RD, B2M, GALK1, SPINK1, HSPB1, RANBP2, ESCO2, MCCC1, NYX, RSPO4, PHF8, AGK, TTC8, POR, C1QB, TGFBR2, CYP2C19, P3H1, MAFB, SLC6A19, PTEN, MYOT, NF2, SCN4A, ALMS1, ZFYVE27, PIK3R5, F9, SLC26A2, SLC39A8, SHMT1, SKIV2L, SYNE1, CFH, PLAG1, CD247, ALG11, SLC4A4, KIAA0556, OTOG, ORC6, CBL, KCNJ1, FKRP, ANO3, GJA8, IMPG1, HSPD1, WWOX, CHAT, MT-CYB, ABCD4, ADGRG1, GAD1, TNNT2, SH2D1A, FBXL4, ANKRD11, FXYD2, AHI1, PDE6B, PDE6C, ACVR1B, TBX1, SYT2, DPY19L2, OAT, RBM28, SERPINC1, HNF1B, ATOH7, NLGN3, CHST14, CEP63, RAX2, CRTAP, CTSD, TTC7A, NUP62, FYCO1, PNKP, DBH, AP4E1, FLVCR1, MMACHC, SERPINI1, TAPBP, PPIB, ICR1, PCYT1A, SIPA1L3, GYG1, KCNQ3, SLC5A1, SH3PXD2B, COX15, KRT17, SCN2A, UNC119, SLC19A1, PEX13, PDE6G, NRL, PEX5, ECHS1, MUSK, XPC, ZMYND11, CFP, CYP2U1, AHDC1, PER2, SDHAF1, CSF1R, SLC2A1, RAB18, SLC9A1, TGM6, OPN1LW, SLC46A1, DIABLO, ERCC6L2, PIK3R2, FAT4, RFXANK, DCDC2, PDHX, PIEZO2, ABCA3, SPRY4, SLC9A3, DYX1C1, ENG, PDSS1, HLA-B, CPT1C, HMGB3, PCCA, BRWD3, KIF7, CTSC, PAK3, ANK3, CCDC88C, DRAM2, MEF2A, BCO1, POMK, TYR, DHCR24, COX7B, RDH11, P2RX1, COL11A1, EXOC8, NOP10, RAB28, B3GALNT2, MITF, GJB6, TREX1, LRP4, NCF1, MYC, POMT1, F5, SEMA3E, PSEN1, JPH3, SNX10, PDGFRL, ANO5, PCCB, ZIC1, ASCC1, PNPO, ACY1, KMT2A, LIPH, SLC25A1, SYCP3, PTRF, SPTAN1, ANKRD26, MT-CO3, POLE, AKR1C4, CYP11B1, CDC73, ENAM, CACNB4, AGRN, DLL4, CD79B, CLCN7, CLP1, TNXB, TUB, SOX9, BFSP2, FOXL2, FGF9, GUCY2D, HOMER2, SLC30A10, PKLR, CABP4, PPT1, TTC37, CHST8, SACS, AMACR, SCARB2, SNRPN, CFL2, RPS29, ZHX2, GTPBP3, KCNE1, B9D2, HDAC8, KMT2C, EARS2, RIT1, ADAMTS10, RBM10, SC5D, EDN3, LCAT, TCIRG1, DYNC2H1, PPP1R17, CARTPT, GLRA1, CHIT1, FGF23, STX11, BOLA3, FGF5, BRAF, SLC35A2, MALT1, LIMS2, GNPTG, SLC5A5, UBE2A, BLNK, TARS2, RSPRY1, TMEM70, KRT5, SLC7A14, GNS, GRM1, SNIP1, CYP27B1, ARL2BP, EEF2, MICU1, MT-ND4L, NFKB2, ANKH, KCNJ5, B4GALNT1, HRAS, SLC26A8, TNFRSF11B, SCN4B, KL, SLC5A7, FGFR1, NAGLU, PEX3, FAM111B, CNGA3, NKX2-1, ITPA, SLC16A2, ADRA2B, TCTN2, SMC1A, LMNB2, ATP2B2, SLC20A2, AP1S3, SEC24D, PGAP1, CNGB3, KCNH1, MAF, KANSL1, TUBB4A, DYNC1H1, PHKA2, TLR2, USH2A, OTC, SHOXY, SH2B3, AR, CHRNE, C8A, NODAL, SLC12A6, ACTG1, NIPAL4, ASXL1, KCNJ10, RORC, ABCG5, TEX11, DVL1, PCLO, PEX7, MUT, TFR2, RNF216, RBM20, SERAC1, NIPBL, ZSWIM6, IL6, DCN, COLEC11, HCFC1, APC, KIF1BP, ASPA, SMOC1, ADAM17, PTPRF, CCDC151, FCGR2A, RDH12, MCEE, GPD1, SYNE2, TRDN, HCN4, CRYGB, UCP1, C3AR1, CLIC2, TNFRSF1A, TSEN2, DNAH11, PRPF31, CST3, TPM1, BRCA2, SQSTM1, WNK4, PEX6, MSX1, PLCD1, MUC1, CAV1, CTH, ADRB3, PMM2, GNAI3, MGAT2, CDK5, BEST1, BRIP1, ZEB2, SLC24A5, NEB, FAN1, UCP3, CCDC115, PRPF8, FGF3, PDE6D, TGFB2, HSPB8, TTBK2, TMEM98, BBS2, LTBP4, JAG1, CRYM, IGSF3, FMO3, GRID2, COL2A1, RBPJ, GLI2, NUBPL, AMN, RIN2, SYNE4, RUNX1, STT3A, RB1CC1, CDKL5, FCN3, PGM1, DSC2, TACSTD2, KRT85, MYF6, POU3F4, CCM2, KIF5A, AP4S1, ATXN10, THPO, MOGS, NNT, CNTN2, MSMO1, HRG, HADHA, JAK2, DEPDC5, PLOD1, ABCA7, MMP13, NFKBIA, RPS17, CLEC7A, DSE, TSHZ1, C3, ERCC5, MT-ND3, SAMHD1, UQCRQ, NDUFA9, RBP4, CYP2D6, GP6, DKC1, IFT140, ALX4, ABCC8, HAX1, XK, GNB4, DDHD2, MUC5B, HPRT1, PDE6H, FBXO38, SDHD, FRMD4A, FAM111A, HLA-DRB1, SLITRK6, GAL, TXN2, BICD2, BBS4, BCS1L, RAPSN, MCM9, FA2H, LTBP2, ROR2, PLK4, HIBCH, PHC1, SAMD9, SETX, ITPR2, FUS, COQ2, SALL2, MASTL, PRSS23, MT-ND1, DNA2, LAMC3, ISG15, DIP2B, EOGT, ACADSB, RPS7, TBCK, ABCD3, AMER1, CHRND, STAT3, SLC13A5, CLN3, NDUFS3, FAM83H, FGF14, SMARCB1, IL17RA, DOCK8, FOXG1, HOXC13, FAM126A, CETP, PNPLA6, TBX4, TBX18, PCNT, CEACAM16, UQCRB, HERC2, CLIC5, TYK2, CBX2, CA12, THOC6, CYP1B1, TLL1, CACNA1S, CLASP1, UCHL1, IYD, NBEAL2, HNMT, SMC3, CISD2, NDUFAF5, MYH8, HTRA1, ZP1, ITGB3, TUFM, SLC36A2, SPTLC1, TSPAN7, SMARCAD1, HCRT, IGSF1, CAV3, CLDN14, DNAJC19, CNBP, CHRNG, ELMOD3, PIGT, DNM2, ITGB6, CKAP2L, TAP1, SEMA3A, RAB27A, RNASEH1, MYO5A, IFITM5, OCA2, PTHLH, ALB, ELAC2, TRAF3IP1, COX10, SLC25A22, COL9A3, MAN2B1, CCDC103, MRAP, IBA57, EFEMP2, MASP2, NDUFS8, COQ7, DARS, HAL, SNAI2, PDGFRB, MTMR2, XYLT2, EIF2B4, UNG, PRICKLE2, DNMT3B, WNT4, ANXA5, PTCH1, ACE, CTSK, APOA2, CIB2, LGI1, PAX6, RIPPLY2, TRAF3IP2, IFT172, CPOX, MATN3, PRRX1, TARDBP, SOX5, ALDH2, ARHGEF6, DOCK6, MT-ND2, CCDC114, ITM2B, ASS1, MT-TD, RAB3GAP1, PDE3A, HTT, AVPR2, HBG1, CCDC22, HDAC6, EPHX2, AP1S1, RSPH4A, KRT6C, IARS2, ZBTB16, TRPA1, EYA1, NDST1, KLHL41, CYP24A1, LAMA3, ZMYND10, PTPRC, IFNGR1, PITX2, ARHGAP31, TUBA8, TCAP, LARS, RAB39B, PQBP1, IL7R, SMARCA2, DYSF, INSL3, SPR, ZIC2, NFIX, PRODH, ZNF513, TGFB3, CASR, CTLA4, DMD, CHRNA1, PYGM, RAD51C, PYCR2, MIR204, EIF2AK4, TUBB2A, PRKDC, NDUFS1, VCP, CFI, CDHR1, MED12, SEC63, ATP1A3, TMEM138, TOR1A, GFI1, MCM4, HSF4, ATP7B, ATP8A2, LDB3, ACADM, NKX2-5, RS1, NPC2, DDOST, LPAR6, DSTYK, GJB1, NMNAT1, SUMF1, INS, MT-ND4, DNAJC13, BIN1, WDR72, PCDH19, HPCA, HSD17B4, DHCR7, PRNP, LYST, RPL35A, ATM, KCNJ18, IER3IP1, FXN, CDAN1, AKT3, EIF2B3, DIAPH1, FGFR2, UQCC3, UMOD, UBE3A, CPT1A, RPL11, SERPINB7, FAM20A, L1CAM, WAC, ELOVL5, RET, SPTBN2, NTF3, KCNJ2, POU4F3, KCNQ4, HACE1, RNF125, CFHR1, ADCY6, BMPR1B, GOSR2, PLCB4, PLEKHG4, PSMC3IP, CACNA1D, PKP2, CDH3, APOE, DCPS, HGF, SUOX, TMEM216, WDR73, NGLY1, NQO2, EPCAM, GNAS, WNT5A, IGF2R, VSX1, COL3A1, RNASEH2A, SFTPA2, TP63, DOCK7, RLBP1, ETHE1, VMA21, MMP19, PTPRO, SCN10A, ZNF423, SPTA1, GLYCTK, SLC17A5, DNAAF1, F8, NOG, DST, KIF1B, ITGA3, TBC1D24, BEAN1, ADRB2, MLYCD, MLC1, POMGNT1, PTCH2, KIF1A, ARSE, APOC2, SLC6A1, SBF1, ACTC1, MKS1, TUBGCP4, ATXN8, TRMT5, ANO10, SUGCT, PHKB, IFIH1, LAMP2, GJB4, ERBB3, NDUFAF3, CEP135, TULP1, PNPLA1, COL6A2, P4HB, GATAD2B, CHAMP1, ALDH7A1, FOXE1, HS6ST1, GNRHR, BUB1B, ABAT, TNNI3, KIAA2022, TAF6, BTD, CTSF, MYLK, PYCR1, MRE11A, TUBB2B, KLKB1, C4A, COMP, SUCLA2, CYP4F22, TAZ, MAT1A, ATP2C1, TECR, VEGFC, MKRN3, FCGR2B, CLN5, NOL3, T, PPP2R2B, RAG2, TRAPPC9, DUSP6, DNMT3A, SLC12A1, GATA1, TTLL5, TAPT1, LMOD3, FANCE, AGL, MT-TE, PHB, SCNN1B, TMCO1, SLC4A1, TPM2, ZFPM2, SLC19A2, KRT83, CFB, KLHL7, GPR179, CASQ2, MYO7A, AKT1, TPI1, ZNF687, WDR35, LRPPRC, MASP1, NONO, LARP7, VPS13A, EZH2, TWIST1, LOXL1, ERCC8, DSG4, DNAH1, EDAR, HSPA9, ARSA, GNE, CUBN, DPP6, HAMP, NOD2, CTC1, MTM1, GJC2, POLA1, CHST3, EIF2B5, SPTLC2, TRIP11, TMEM5, ECE1, PINK1, SEPN1, UNC80, PROKR2, PIGN, POU6F2, PTPN11, PEX12, B4GALT1, SPG7, DMPK, VPS11, DNAL4, NDUFS4, DBT, IQCB1, LIPE, DNAAF2, CIDEC, COCH, COL5A2, WISP3, EDARADD, NEU1, GATA4, ZMPSTE24, CLCNKB, PDP1, CALR, PHKA1, BRAT1, CDK5RAP2, SLC6A20, DGAT1, UVSSA, KRT12, FBP1, GTF2H5, ADCY1, EPM2A, MT-TS2, PRDM5, HADHB, WNT10B, MMAB, AUTS2, NHLRC1, FKBP10, GRN, MERTK, PIK3CA, COL1A2, GBA2, DNM1, CFHR5, GFAP, GPSM2, PDK3, IRF3, ITGA2B, PROP1, G6PC3, BAAT, SH3TC2, ELP4, ZBTB20, MYO1E, PRSS56, BAG3, PROK2, TRNT1, DES, CYCS, MPO, SLC30A2, RUBCN, KCNT1, TERC, DLD, KCNMB1, MYH3, CAPN3, HSD11B1, CHD2, CLDN19, IL2RG, CUL7, DFNA5, SBDS, FIG4, ANGPTL4, RPS28, BLMH, ECEL1, SCN11A, SGCD, CLCNKA, GABRD, MIR17HG, NME1, SP7, PRDM16, VWF, DFNB59, RP9, NEXN, ERCC3, ATXN8OS, FRMD7, CSTB, CD3E, ATN1, AFF4, PAX9, MVK, GK, CARD9, SPRED1, BCL11A, COL4A6, LIPC, KRT13, RMRP, CDH23, HARS, BAP1, GDF1, PKHD1, SDC3, STS, UGT1A1, VIPAS39, EPG5, UPF3B, RARB, SLC26A3, POMP, SOS2, SMAD6, DPH1, BMP1, FOLR1, IGF1, TREM2, C1QC, DARS2, GNPTAB, SYNGAP1, SLC29A3, PTH1R, TMIE, SART3, UBE2T, AARS2, HBG2, NDN, TRIM2, TXNL4A, ABCC6, NPHP3, FOXP1, CASC5, TP53, YARS, EPS8, CFAP57, LRP2, TUBB8, ELN, CDSN, MN1, AMPD3, BSND, SARS2, HK1, ERBB4, LZTR1, KIF4A, ANTXR1, MYH6, REEP2, AIRE, NBAS, DLG3, SLC25A15, TTI2, PTS, PAX3, ATP2A2, MRPL3, B3GAT3, TGFB1, SLC39A4, SOST, PRPF6, MPDZ, COLQ, IGF1R, EIF2AK3, APPL1, TBCE, SCO1, GRHL3, CERS3, C5orf42, DNMT1, GM2A, WDR60, NUDT15, SLC5A2, SCN3B, FUT1, DCLRE1C, OTOF, FAM65B, TMEM67, MAPT, ADAMTS17, NECTIN1, ALOXE3, PROM1, ZBTB18, SLC25A20, CFD, SURF1, ROGDI, RP1, SATB2, CAST, SLC34A1, PHEX, CHM, PKD1, DCAF8, SALL1, RAD21, ALDH6A1, CDK6, CENPF, ANK1, STRC, KCNJ6, CHRDL1, TRAPPC2, FLRT3, DNAH5, GALC, TSPYL1, MCM6, NADK2, PLAU, GJA5, MTPAP, MYO3A, DPYS, SALL4, ITCH, MAPRE2, ARX, LAMB2, MMP1, FANCM, PLEKHG5, SLC25A38, CRADD, XRCC3, MBTPS2, ABCA1, COX8A, CC2D1A, LZTFL1, TBK1, CYP26C1, GATA3, SLFN14, CLPP, ZDHHC15, HMGCS2, NECAP1, AFF2, WDR34, PLEC, C1QA, SLC2A10, CLCN5, CRYAA, NEK2, SMN1, PTF1A, AK1, SNAP29, SDHC, EDA, CEL, ATP1A2, GNAT1, GFM1, CACNA1F, CEP152, PROC, ORAI1, ERLIN2, SLURP1, MET, PDZD7, SLC25A46, IRF8, KRT16, EEF1A2, MYBPC3, RUNX2, FKBP14, DYM, SPRY2, WDR11, MEGF8, GSC, GP9, SLC25A13, WAS, SLC35A3, PAM16, TYRP1, COL11A2, COL7A1, COA6, SLCO1B3, SMPD1, RPS14, HESX1, RD3, HSD17B10, PTDSS1, FOXP2, DSG2, PPM1D, SGO1, SDCCAG8, ZNF335, FLNA, TBC1D20, MAB21L2, GNA11, GATAD1, SLC34A2, CEP164, RDX, CHMP1A, PPOX, TUBB3, PTCHD1, KLF1, MNX1, LRTOMT, ATP5A1, ALDH1A3, PC, TRPM4, ADAMTS13, SCN1A, ORC4, KRT74, CTPS1, RHO, KIZ, PIGO, TTN, TSHB, RPS19, ATIC, TRPV3, TRPV4, THBD, KCNJ13, SDHAF2, ALG6, HIKESHI, LIAS, KCNQ1, GCNT2, MYH7, STUB1, ATP8B1, EIF2B1, WNT3, BCL10, PHF6, AHNAK, ERF, TBP, MYH9, FGF10, MLLT11, NEK1, LRBA, FGF16, TNFRSF11A, DSC3, ATP6AP2, MYPN, ABCC9, LAMTOR2, COL4A5, PIGV, F12, PSAP, UPB1, F10, KHK, RARS2, ADNP, BSCL2, ZAP70, NPR2, ALDH4A1, MPLKIP, CASP8, TRIM37, PRRT2, FLNB, ALG13, SLC37A4, PDGFB, SRCAP, GHSR, GDF5, CARS2, MPC1, RXFP2, POLR1A, BBIP1, GDI1, COL1A1, POT1, ORC1, AMELX, NT5E, BCAP31, BHLHA9, H6PD, ADCY10, TBX3, PPARG, CERS1, MCIDAS, PRKAR1A, SZT2, OPN1MW, LMBR1, TCN2, SGCE, BTK, OVOL2, PLS3, RP1L1, COX6B1, SGCB, SLCO2A1, NEUROG3, TFRC, BLOC1S6, NDUFV1, XYLT1, CECR1, WHRN, WFS1, EMD, UMPS, CLN8, GRIA3, TIMM8A, CYP2R1, CSTA, HEPACAM, FBLN5, LAMA4, RBM8A, RPGR, ABCA12, DIAPH3, PACS1, TLE6, CA5A, LINS1, LPIN1, RYR1, NPHS2, MORC2, AKT2, AGXT, MARS, EIF4G1, COPA, DDX11, IKBKAP, MRPL44, GNPAT, COA5, NSUN2, STAT1, ELOVL4, PDGFRA, MPZ, SLC35C1, RTTN, RPIA, NR3C2, MYO6, NDP, SYN1, GLRX5, REEP1, PCBD1, CCDC78, ACADVL, FERMT1, ADCY5, NFU1, MIR184, CARD14, BMPR2, RNU4ATAC, FLNC, KCNJ11, CACNA1G, GJA1, CFHR3, INPP5E, IL10RB, ALS2, IL12RB1, COL17A1, KPTN, SCN1B, P2RX2, LAMB3, MTUS1, FOXP3, TBXAS1, SIX1, FBN2, GNAQ, GALE, SHOX, IL36RN, TRPC3, UQCRC2, GYS1, ACO2, PHOX2B, MED17, MAP2K2, COASY, CHSY1, ATL3, RP2, CDKN1C, USH1G, DLX3, SIL1, RPE65, HOXD13, LRIG2, NPPA, KCNC3, USB1, IL1RAPL1, NR2F1, SAR1B, SCO2, GORAB, IFNGR2, MYH11, INVS, RAB23, GJB2, RNF168, ATXN2, ZAK, APRT, IL17RC, SLC39A13, SMPX, NFKB1, KCTD7, PCNA, BICC1, GRXCR1, CARD11, NOTCH1, IL10RA, CEP57, FLVCR2, SIM1, KDR, APBB2, LIFR, HOXA2, MEFV, RTEL1, OPA1, TBX6, HFE, KRT9, DOLK, ITGA7, NAGA, MPDU1, GNRH1, TPRN, ARNT2, B4GAT1, PIK3R1, HSD3B7, DTNA, FTO