MISCELLANEOUS

Associated diseases: ATROPHODERMA VERMICULATUM, PEROXISOME BIOGENESIS DISORDER 5B, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, PULMONARY ALVEOLAR MICROLITHIASIS, ACHONDROPLASIA, {THIOPURINES, POOR METABOLISM OF, 1}, 46XY SEX REVERSAL 9, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FACTOR V DEFICIENCY, ?IMMUNODEFICIENCY 39, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CEROID LIPOFUSCINOSIS NEURONAL 6, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, HEMOCHROMATOSIS, TYPE 2B, DYSAUTONOMIA, FAMILIAL, SICKLE CELL ANEMIA, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, 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, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, 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, RUIJS-AALFS SYNDROME, ALAGILLE SYNDROME 2, CARPENTER SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), JOUBERT SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, 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, BENIGN FAMILIAL HEMATURIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, FLOATING-HARBOR SYNDROME, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, BURKITT LYMPHOMA, 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, GLUTAMINE DEFICIENCY, CONGENITAL, NEUROFIBROMATOSIS, TYPE 1, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, SEBASTIAN 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, 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, ALPHA-METHYLACETOACETIC ACIDURIA, GHOSAL HEMATODIAPHYSEAL SYNDROME, ?CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4, CRANIOMETAPHYSEAL DYSPLASIA, 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, 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, BEHR SYNDROME, {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, 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, NEMALINE MYOPATHY 6, AUTOSOMAL DOMINANT, 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, 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, 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, RENAL CYSTS AND DIABETES SYNDROME, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, 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, 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, CORTISONE REDUCTASE DEFICIENCY 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, 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, 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, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, RENAL GLUCOSURIA, USHER SYNDROME, TYPE 1C, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, RETINITIS PIGMENTOSA 62, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, BARTH SYNDROME, CILIARY DYSKINESIA, PRIMARY, 25, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, WAARDENBURG SYNDROME, TYPE 4B, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, RETINITIS PIGMENTOSA 65, CONE-ROD DYSTROPHY 15, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, FOCAL DERMAL HYPOPLASIA, COACH SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, 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, ?CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 3, 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, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, CUTIS LAXA, AD, PERIODIC FEVER, FAMILIAL, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, 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, RENAL TUBULAR DYSGENESIS, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, HEMOPHILIA A, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, GALACTOKINASE DEFICIENCY WITH CATARACTS, CATEL-MANZKE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, {MELANOMA, CUTANEOUS MALIGNANT, 3}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 6}, ACETYL-COA CARBOXYLASE DEFICIENCY, ?CHILBLAIN LUPUS 2, 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, DUCHENNE MUSCULAR DYSTROPHY, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, CATARACT 5, MULTIPLE TYPES, ?IMMUNODEFICIENCY 45, SPINOCEREBELLAR ATAXIA 35, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, KOHLSCHUTTER-TONZ SYNDROME, 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, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 4, {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, KRABBE DISEASE, ATYPICAL, FIBROCHONDROGENESIS 1, 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, BRACHYDACTYLY, TYPE B2, SPINOCEREBELLAR ATAXIA 38, DEAFNESS, AUTOSOMAL RECESSIVE 1B, POROKERATOSIS 1, MULTIPLE TYPES, 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, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, 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, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, DEAFNESS, AUTOSOMAL RECESSIVE 22, ISOVALERIC ACIDEMIA, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, ?GLYCOPROTEIN IA DEFICIENCY, SJOGREN-LARSSON SYNDROME, MARSHALL SYNDROME, ZINC DEFICIENCY, TRANSIENT NEONATAL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, 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, 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, CEROID LIPOFUSCINOSIS, NEURONAL, 1, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, RETINITIS PIGMENTOSA 2, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, CAUDAL REGRESSION SYNDROME, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, SC PHOCOMELIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, BETA-UREIDOPROPIONASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP T, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 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, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, 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, DOWLING-DEGOS DISEASE 1, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, 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, OOCYTE MATURATION DEFECT 2, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, 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, COMBINED SAP DEFICIENCY, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, PANCREATIC LIPASE DEFICIENCY, PAPILLORENAL SYNDROME, 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, 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, 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, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, JOUBERT SYNDROME 21, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, 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, 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, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PARAMYOTONIA CONGENITA, SENGERS SYNDROME, FRASIER SYNDROME, AGAMMAGLOBULINEMIA 4, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, ALPHA-FETOPROTEIN DEFICIENCY, DYSTONIA-11, MYOCLONIC, 46,XX SEX REVERSAL, TYPE 2, MACULAR DYSTROPHY, VITELLIFORM, 2, MANITOBA OCULOTRICHOANAL SYNDROME, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 3B, 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, AICARDI-GOUTIERES SYNDROME 5, BRACHYDACTYLY, TYPE A1, SPERMATOGENIC FAILURE 7, STEATOCYSTOMA MULTIPLEX, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, PSEUDOHYPOALDOSTERONISM, TYPE IIE, CEROID LIPOFUSCINOSIS, NEURONAL, 3, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, 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, 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, LEUKODYSTROPHY, HYPOMYELINATING, 3, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, CEROID LIPOFUSCINOSIS, NEURONAL, 7, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, DEAFNESS, AUTOSOMAL DOMINANT 65, CHONDRODYSPLASIA, BLOMSTRAND TYPE, GALLOWAY-MOWAT SYNDROME, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8, PRIMROSE SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, PELGER-HUET ANOMALY, PARAGANGLIOMAS 2, TRANSALDOLASE DEFICIENCY, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, LUSCAN-LUMISH SYNDROME, 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, 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, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MENTAL RETARDATION, X-LINKED 99, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, RETT SYNDROME, CONGENITAL VARIANT, ?DEAFNESS, AUTOSOMAL DOMINANT 68, DIAPHANOSPONDYLODYSOSTOSIS, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, OPTIC ATROPHY 1, 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, 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, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, [PENTOSURIA], CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, ?MECKEL SYNDROME 9, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, ADAMS-OLIVER SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE IID, MUCOPOLYSACCHARIDOSIS II, GLUCOSE/GALACTOSE MALABSORPTION, NEPHROTIC SYNDROME, TYPE 8, HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2, CITRULLINEMIA, ADULT-ONSET TYPE II, ?PONTOCEREBELLAR HYPOPLASIA TYPE 5, NEPHRONOPHTHISIS 11, 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, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, BJORNSTAD SYNDROME, HYPEREKPLEXIA HEREDITARY, BARTTER SYNDROME, TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, FUMARASE DEFICIENCY, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, MENTAL RETARDATION, X-LINKED 41, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, 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, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 30, LI-FRAUMENI SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, RETINITIS PIGMENTOSA 13, ?MYOSCLEROSIS, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, ?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, 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}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MITOCHRONDRIAL MIOPATHY, LETHAL, INFANTILE; LIMM, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, 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, DENTIN DYSPLASIA, TYPE II, DEAFNESS, AUTOSOMAL RECESSIVE 48, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, NEMALINE MYOPATHY 10, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2, ANDROGEN INSENSITIVITY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 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, GM1-GANGLIOSIDOSIS, TYPE II, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GLUCOCORTICOID DEFICIENCY 4, HETEROTAXY, VISCERAL, 6, AUTOSOMAL RECESSIVE, UV-SENSITIVE SYNDROME 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11, LYMPHOPROLIFERATIVE SYNDROME 2, ?DEAFNESS, AUTOSOMAL RECESSIVE 104, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, {?THYROID CANCER, NONMEDULLARY, 5}, ATAXIA-OCULOMOTOR APRAXIA 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, IMMUNODEFICIENCY 46, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DEAFNESS, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY, COMMON VARIABLE, 3, DENT DISEASE 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, SUPRANUCLEAR PALSY, PROGRESSIVE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, LONG QT SYNDROME 12, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, 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, 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, CEROID LIPOFUSCINOSIS, NEURONAL, 2, 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, 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, CARDIOMYOPATHY, DILATED, 1E, ?RENAL HYPODYSPLASIA/APLASIA 2, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, GAUCHER DISEASE, TYPE IIIC, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ?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, 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, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ALKAPTONURIA, 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, ENCEPHALOPATHY, NEONATAL SEVERE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, CHOROIDEREMIA, 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), ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, LISSENCEPHALY 6, WITH MICROCEPHALY, 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, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, NEURODEGENERATION WITH BRAIN IRON ACCULULATION 5, ?CATARACT 42, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE IA, ?WEBB-DATTANI SYNDROME, WAARDENBURG SYNDROME, TYPE 4A, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, WIEDEMANN-STEINER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, ELLIPTOCYTOSIS-2, FAMILIAL ADENOMATOUS POLYPOSIS 3, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, EIKEN SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SCHNECKENBECKEN DYSPLASIA, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, HYPOKALEMIC PERIODIC PARALYSIS 1, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, 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, SPINOCEREBELLAR ATAXIA 6, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS, RETINITIS PIGMENTOSA 72, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, NORRIE DISEASE, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, DEAFNESS, AUTOSOMAL RECESSIVE 16, CHERUBISM, ASPARTYLGLUCOSAMINURIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, 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, KANZAKI DISEASE, MARSHALL-SMITH SYNDROME, MACULAR DYSTROPHY, VITELLIFORM, 3, PEROXISOME BIOGENESIS DISORDER 7B, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, CORTICAL MALFORMATIONS, OCCIPITAL, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, KARTAGENER SYNDROME, THROMBOCYTHEMIA 2, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LIANG DISTAL MYOPATHY, ?DEAFNESS, AUTOSOMAL RECESSIVE 66, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HOLOPROSENCEPHALY-5, 2-METHYLBUTYRYLGLYCINURIA, IMMUNODEFICIENCY 24, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, [ECULIZUMAB, POOR RESPONSE TO], 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, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, FANCONI ANEMIA, COMPLEMENTATION GROUP P, CILIARY DYSKINESIA, PRIMARY, 21, 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, CONE-ROD DYSTROPHY, X-LINKED, 3, 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, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, MEIER-GORLIN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, DEAFNESS, AUTOSOMAL RECESSIVE 25, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 8, APHAKIA, CONGENITAL PRIMARY, ARGININOSUCCINIC ACIDURIA, ?COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE, PSEUDOHYPOPARATHYROIDISM IA, SPINAL MUSCULAR ATROPHY-2, PULMONARY HYPERTENSION, PRIMARY, 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE XVII, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, 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, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, ?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}, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-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, 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, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], CATARACT 44, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, TARSAL-CARPAL COALITION SYNDROME, FRAXE, LEUKODYSTROPHY, HYPOMYELINATING, 2, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, MYOPATHY, TUBULAR AGGREGATE, 2, 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, 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, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, PEROXISOME BIOGENESIS DISORDER 3B, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, FRUCTOSE INTOLERANCE, IMMUNODEFICIENCY 30, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, PRIMARY LATERAL SCLEROSIS, JUVENILE, MECKEL SYNDROME 7, BRITTLE CORNEA SYNDROME 2, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, NEPHROTIC SYNDROME, TYPE 2, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], GIANT AXONAL NEUROPATHY-1, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?DIAMOND-BLACKFAN ANEMIA 12, 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, ELLIS-VAN CREVELD SYNDROME, GLYCOGEN STORAGE DISEASE VII, NEU-LAXOVA SYNDROME 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, APPARENT MINERALOCORTICOID EXCESS, MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, KRABBE DISEASE, ?DIARRHEA 7, BRANCHIOOTIC SYNDROME 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MELEDA DISEASE, ICHTHYOSIS WITH CONFETTI, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, GRACILE BONE DYSPLASIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, 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, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, 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, CYSTINURIA, VON WILLEBRAND DISEASE, PLATELET-TYPE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44, ?PARKINSONISM WITH SPASTICITY, X-LINKED, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, 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}, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, PULMONARY VENOOCCLUSIVE DISEASE 2, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, BASAL CELL NEVUS SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ?ACAT2 DEFICIENCY, 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, IMMUNODEFICIENCY 40, ANONYCHIA CONGENITA, 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, MORBID OBESITY AND SPERMATOGENIC FAILURE, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, 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), ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 4}, IMMUNODEFICIENCY 43, 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, SPINOCEREBELLAR ATAXIA 21, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, NEPHRONOPHTHISIS 12, 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, ESSENTIAL HYPERTENSION, MIYOSHI MUSCULAR DYSTROPHY 3, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, AMELOGENESIS IMPERFECTA, TYPE IIA1, PARKINSON DISEASE 1, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 13, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DEMENTIA, FAMILIAL, NONSPECIFIC, AGNATHIA-OTOCEPHALY COMPLEX, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, TEMPLE-BARAITSER SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 5, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, PONTOCEREBELLAR HYPOPLASIA TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34, EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1F, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 13, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SCHAAF-YANG SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, 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, DEAFNESS, AUTOSOMAL RECESSIVE 67, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, 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, 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, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, COMPLEMENT FACTOR H DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, NASU-HAKOLA DISEASE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, 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, PACHYONYCHIA CONGENITA 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, MCARDLE DISEASE, ?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, DEAFNESS, AUTOSOMAL RECESSIVE 37, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, HYPOPHOSPHATEMIC RICKETS, ?SNEDDON SYNDROME, SPINOCEREBELLAR ATAXIA 12, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, NEPHROTIC SYNDROME, TYPE 3, PARAGANGLIOMAS 4, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, CILIARY DYSKINESIA, PRIMARY, 29, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, 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, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPHEROCYTOSIS, TYPE 1, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, IMMUNODEFICIENCY 9, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, EPILEPSY, PROGRESSIVE MYOCLONIC 7, {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, ?IMMUNODEFICIENCY 37, 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, ALBINISM, OCULOCUTANEOUS, TYPE IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, EPILEPSY, PROGRESSIVE MYOCLONIC 1A (UNVERRICHT AND LUNDBORG), ?ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE, DIAMOND-BLACKFAN ANEMIA 3, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY, BARDET-BIEDL SYNDROME 3, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, SPINOCEREBELLAR ATAXIA 28, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, KABUKI SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, 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, DIAMOND-BLACKFAN ANEMIA 5, 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, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, ATRIAL FIBRILLATION, FAMILIAL, 7, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, ?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, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, RIBOFLAVIN DEFICIENCY, AICARDI-GOUTIERES SYNDROME 3, MUSCLE GLYCOGENOSIS, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, VESICOURETERAL REFLUX 3, MUCKLE-WELLS SYNDROME, 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, MENTAL RETARDATION, FRA12A TYPE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, ?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, THYROID DYSHORMONOGENESIS 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, INFANTILE LIVER FAILURE SYNDROME 2, SPLIT-HAND/FOOT MALFORMATION 4, 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, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCINE ENCEPHALOPATHY, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, STICKLER SYNDROME, TYPE II, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?SPERMATOGENIC FAILURE 6, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, SED CONGENITA, BEAULIEU-BOYCOTT-INNES SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 76, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CILIARY DYSKINESIA, PRIMARY, 27, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, BARDET-BIEDL SYNDROME 13, DEAFNESS, AUTOSOMAL RECESSIVE 24, PREMATURE OVARIAN FAILURE 5, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, VOHWINKEL SYNDROME, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOSPADIAS 2, X-LINKED, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, 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, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, TATTON-BROWN-RAHMAN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 11, MECKEL SYNDROME 5, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, CARDIOMYOPATHY, DILATED, 1II, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, CILIARY DYSKINESIA, PRIMARY, 16, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, GM1-GANGLIOSIDOSIS, TYPE III, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9, MYOPIA 24, AUTOSOMAL DOMINANT, 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, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ATAXIA-OCULOMOTOR APRAXIA 3, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 15, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, PREIMPLANTATION EMBRYONIC LETHALITY, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, [SHORT SLEEPER], MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VERHEIJ SYNDROME, 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, LYMPHOPROLIFERATIVE SYNDROME 1, AICARDI-GOUTIERES SYNDROME 4, MIRROR MOVEMENTS 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, [BLOOD GROUP, VEL SYSTEM], EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, DEAFNESS, AUTOSOMAL DOMINANT 11, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, ?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, 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, MANDIBULOACRAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, LONG QT SYNDROME 5, SPINOCEREBELLAR ATAXIA 27, RETINITIS PIGMENTOSA 68, IMMUNODEFICIENCY 35, VAN BUCHEM DISEASE, TYPE 2, [FRUCTOSURIA], 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, EPISODIC PAIN SYNDROME, FAMILIAL, 2, WRINKLY SKIN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, PERRAULT SYNDROME 1, 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, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, KBG SYNDROME, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPLIT-HAND/FOOT MALFORMATION 6, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, 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, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, VIBRATORY URTICARIA, LONG QT SYNDROME 15, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, HEIMLER SYNDROME 2, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, LEBER CONGENITAL AMAUROSIS 17, WAARDENBURG SYNDROME, TYPE 4C, CILIARY DYSKINESIA, PRIMARY, 30, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, JOUBERT SYNDROME 24, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, KLEEFSTRA SYNDROME, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, [PREMATURE CHROMATID SEPARATION TRAIT], ?PREMATURE OVARIAN FAILURE 10, WARBURG MICRO SYNDROME 4, NEPHRONOPHTHISIS 18, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, AGAMMAGLOBULINEMIA 1, 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, ?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, PARKINSON DISEASE 6, EARLY ONSET, MYASTHENIC SYNDROME, CONGENITAL, 16, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HYPERLYSINEMIA, VAN MALDERGEM SYNDROME 2, RETINITIS PIGMENTOSA 20, DEAFNESS, AUTOSOMAL DOMINANT 36, SMITH-MAGENIS SYNDROME, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, DEAFNESS, X-LINKED 5, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT, DEAFNESS, AUTOSOMAL RECESSIVE 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, MAY-HEGGLIN ANOMALY, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ECTOPIA LENTIS ET PUPILLAE, HYPOURICEMIA, RENAL, 2, {URIC ACID CONCENTRATION, SERUM, QTL 2}, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, DEAFNESS, AUTOSOMAL DOMINANT 13, ?PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2, METHYLMALONYL-COA EPIMERASE DEFICIENCY, ALBINISM, OCULOCUTANEOUS, TYPE VII, ANEMIA, SIDEROBLASTIC, 1, JERVELL AND LANGE-NIELSEN SYNDROME 2, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, 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, MACULAR DYSTROPHY, NORTH CAROLINA TYPE, COLE DISEASE, PARKINSON DISEASE 21, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, ?LICHTENSTEIN-KNORR SYNDROME, POROKERATOSIS 3, MULTIPLE TYPES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ?RETINITIS PIGMENTOSA 67, GLYCOGEN STORAGE DISEASE VI, [HISTIDINEMIA], 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, 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, DEAFNESS, AUTOSOMAL DOMINANT 56, AMYOTROPHIC LATERAL SCLEROSIS 11, ?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, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, TYROSINEMIA, TYPE III, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, 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, ?PERRAULT SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, OMODYSPLASIA 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKOENCEPHALOPATHY WITH ATAXIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, MITRAL VALVE PROLAPSE 2, 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, ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, {ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2}, 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, DEAFNESS, AUTOSOMAL RECESSIVE 79, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, ACHEIROPODY, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), MULIBREY NANISM, CYLINDROMATOSIS, FAMILIAL, MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6, HYPOMAGNESEMIA 6, RENAL, MUCOLIPIDOSIS III ALPHA/BETA, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ?FEBRILE SEIZURES, FAMILIAL, 4, PAROXYSMAL NONKINESIGENIC DYSKINESIA, MENTAL RETARDATION, X-LINKED 98, GAUCHER DISEASE, TYPE I, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?OROFACIAL CLEFT 15, NON-IMMUNE HYDROPS FETALIS, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, ?IMMUNODEFICIENCY 25, EVEN-PLUS SYNDROME, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, [BONE MINERAL DENSITY VARIABILITY 1], MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, CRYPTORCHIDISM, MYASTHENIC SYNDROME, CONGENITAL, 5, ACNE INVERSA, FAMILIAL, 1, WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, MECKEL SYNDROME 1, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ?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, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, ESTROGEN RESISTANCE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, DYSTONIA 25, ?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, 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, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1, HYPOCHONDROPLASIA, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, PENDRED'S SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, EXOSTOSES, MULTIPLE, TYPE 2, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, 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, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, HYALINE FIBROMATOSIS SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CILIARY DYSKINESIA, PRIMARY, 26, RAINE SYNDROME, 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, ?SPINOCEREBELLAR ATAXIA 34, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, GITELMAN 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, ?RETINITIS PIGMENTOSA 51, KLIPPEL-FEIL SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, 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, XERODERMA PIGMENTOSUM, GROUP D, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, MYOTONIA CONGENITA, DOMINANT, HETEROTAXY, VISCERAL, 7, AUTOSOMAL, CHONDROCALCINOSIS 2, HERMANSKY-PUDLAK SYNDROME 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, BARDET-BIEDL SYNDROME 10, OSTEOGENESIS IMPERFECTA, TYPE V, ANDERSEN SYNDROME, 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, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NEPHROTIC SYNDROME, TYPE 9, BRUCK SYNDROME 1, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DEAFNESS, AUTOSOMAL DOMINANT 8/12, COENZYME Q10 DEFICIENCY, PRIMARY, 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, {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, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, LEBER CONGENITAL AMAUROSIS 9, ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, MICROPHTHALMIA, SYNDROMIC 14, ?MENTAL RETARDATION, X-LINKED 91, 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), IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, 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, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, MEVALONIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?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, TRANSCOBALAMIN II DEFICIENCY, POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE, TROYER SYNDROME, PARKINSONISM-DYSTONIA, INFANTILE, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, 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, ACROCAPITOFEMORAL DYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 2}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 10, SERKAL SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, OSTEOGENESIS IMPERFECTA, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, 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, OCULOECTODERMAL SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, GLYCOGEN STORAGE DISEASE IXC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, BANNAYAN-RILEY-RUVALCABA SYNDROME, EPISODIC KINESIGENIC DYSKINESIA 1, PARAGANGLIOMAS 5, MACULAR DYSTROPHY, VITELLIFORM, 5, PARKINSON DISEASE, JUVENILE, TYPE 2, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, DEAFNESS , AUTOSOMAL RECESSIVE 86, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], LEIGH SYNDROME, FRENCH-CANADIAN TYPE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, 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, CHILBLAIN LUPUS, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q, PARKINSON DISEASE 4, GALACTOSE EPIMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, 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, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, [BLOOD GROUP, LUTHERAN NULL], MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36, PHYTANIC ACID STORAGE DISEASE, 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, NEPHROPATHY DUE TO CFHR5 DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, {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, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, [C3HEX, ABILITY TO SMELL], PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50, HERMANSKY-PUDLAK SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MOHR-TRANEBJAERG SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, EXUDATIVE VITREORETINOPATHY 2, X-LINKED, KEPPEN-LUBINSKY SYNDROME, 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, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, STAR SYNDROME, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SPINOCEREBELLAR ATAXIA 5, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), 3-METHYLGLUTACONIC ACIDURIA, TYPE I, 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, CEREBROOCULOFACIOSKELETAL SYNDROME 4, LYSINURIC PROTEIN INTOLERANCE, ?CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, EPISODIC PAIN SYNDROME, FAMILIAL, 3, DYSTONIA 6, TORSION, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, CILIARY DYSKINESIA, PRIMARY, 5, 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, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, EPISODIC ATAXIA, TYPE 2, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, STROMME SYNDROME, SINGLETON-MERTEN SYNDROME 1, ACNE INVERSA, FAMILIAL, 3, {GLIOMA SUSCEPTIBILITY 9}, EPILEPSY, FAMILIAL TEMPORAL LOBE, 1, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, BARDET-BIEDL SYNDROME 16, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, GLIOMA SUSCEPTIBILITY 1, 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, ?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, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, 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), MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, CILIARY DYSKINESIA, PRIMARY, 20, ?BARDET-BIEDL SYNDROME 15, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, PANCREATIC AGENESIS 1, 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, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, CHANARIN-DORFMAN SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, L-2-HYDROXYGLUTARIC ACIDURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, OSTEOGENESIS IMPERFECTA, TYPE XIII, 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, NEPHRONOPHTHISIS 4, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, TYPE IV, [CHITOTRIOSIDASE DEFICIENCY], BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 8, AGAMMAGLOBULINEMIA 6, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, ?RETINITIS PIGMENTOSA 9, GLYCOGEN STORAGE DISEASE X, USHER SYNDROME, TYPE 3A, WILSON-TURNER SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, ?SPASTIC PARAPLEGIA 63, ALEXANDER DISEASE, PROPERDIN DEFICIENCY, X-LINKED, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PORENCEPHALY 1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, ?RETINITIS PIGMENTOSA 23, JOUBERT SYNDROME 18, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, NANOPHTHALMOS 4, SPINAL MUSCULAR ATROPHY-1, CILIARY DYSKINESIA, PRIMARY, 2, DIAMOND-BLACKFAN ANEMIA 7, 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, BRODY MYOPATHY, ?GLYCOGEN STORAGE DISEASE XIII, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, TEMTAMY SYNDROME, NONAKA MYOPATHY, MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE, EARLY ONSET, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, ?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, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, DEAFNESS, AUTOSOMAL DOMINANT 5, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, PULMONARY VENOOCCLUSIVE DISEASE 1, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, COLE-CARPENTER SYNDROME 2, DEAFNESS, AUTOSOMAL DOMINANT 48, 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, FRONTOTEMPORAL DEMENTIA, PERIODONTITIS 1, JUVENILE, POROKERATOSIS 7, MULTIPLE TYPES, BOUCHER-NEUHAUSER SYNDROME, CONE-ROD DYSTROPHY 11, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, ?RETINAL ARTERIES, TORTUOSITY OF, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, 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, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14}, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, DYSTONIA 9, HAIM-MUNK SYNDROME, 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, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ?MARDEN-WALKER SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, JOUBERT SYNDROME 2, DEAFNESS, AUTOSOMAL DOMINANT 9, PEROXISOME BIOGENESIS DISORDER 14B, IMMUNODEFICIENCY 44, 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), MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CHOREOACANTHOCYTOSIS, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, 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}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WELANDER DISTAL MYOPATHY, ?RETINAL DYSTROPHY AND OBESITY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ARTS SYNDROME, GM2-GANGLIOSIDOSIS, AB VARIANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, ?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, 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, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, 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, RETINITIS PIGMENTOSA 45, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, TRIMETHYLAMINURIA, 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, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, GABA-TRANSAMINASE DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, PLEUROPULMONARY BLASTOMA, DOWLING-DEGOS DISEASE 2, DEAFNESS, X-LINKED 2, CPT DEFICIENCY, HEPATIC, TYPE IA, MUSCULAR DYSTROPHY, RIGID SPINE, 1, MACULAR DYSTROPHY, VITELLIFORM, 4, COENZYME Q10 DEFICIENCY, PRIMARY, 3, ?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, SILVER SPASTIC PARAPLEGIA SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 4, CARTILAGE-HAIR HYPOPLASIA, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, SPINOCEREBELLAR ATAXIA 13, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PARIETAL FORAMINA 2, 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, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, CARDIOMYOPATHY, DILATED, 1CC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ?NARCOLEPSY 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, 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, 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, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, 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, GRISCELLI SYNDROME, TYPE 3, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ARTHROGRYPOSIS, DISTAL, TYPE 5D, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, 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, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, TOOTH AGENESIS, SELECTIVE, 4, 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, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, LONG QT SYNDROME 14, USHER SYNDROME, TYPE 2D, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, SADDAN, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A, OPSISMODYSPLASIA, 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, 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, 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, EXOSTOSES, MULTIPLE, TYPE 1, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, DIGEORGE SYNDROME, NEPHROTIC SYNDROME, TYPE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, SPINOCEREBELLAR ATAXIA 31, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, AVASCULAR NECROSIS OF THE FEMORAL HEAD, MECKEL SYNDROME 3, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, DEAFNESS, AUTOSOMAL DOMINANT 64, 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, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, 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, POLYGLUCOSAN BODY DISEASE, ADULT FORM, SIALIC ACID STORAGE DISORDER, INFANTILE, LONG QT SYNDROME 1, MENTAL RETARDATION, X-LINKED 97, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, PYRUVATE CARBOXYLASE DEFICIENCY, {VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, COMPLEMENT FACTOR I DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, CONGENITAL SHORT BOWEL SYNDROME, 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}, ?HYDROXYKYNURENINURIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, TUMOR PREDISPOSITION SYNDROME, {THYROID CANCER, NONMEDULLARY, 4}, 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, 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, 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 II, PERLMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, POPLITEAL PTERYGIUM SYNDROME 1, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, PARKINSON DISEASE 19, JUVENILE-ONSET, AGAMMAGLOBULINEMIA 2, WILMS TUMOR 2, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), PORETTI-BOLTSHAUSER SYNDROME, EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, DENT DISEASE, DEJERINE-SOTTAS DISEASE, METACHROMATIC LEUKODYSTROPHY, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FRONTOMETAPHYSEAL DYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 74, 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, DEAFNESS, AUTOSOMAL RECESSIVE 68, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, ?SPONDYLOCOSTAL DYSOSTOSIS 6, JOHANSON-BLIZZARD SYNDROME, {MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1}, PRION DISEASE WITH PROTRACTED COURSE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, CARDIOMYOPATHY, HYPERTROPHIC 6, PAROXYSMAL EXTREME PAIN DISORDER, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, ALPORT SYNDROME, AUTOSOMAL DOMINANT, STUTTERING, FAMILIAL PERSISTENT, 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, USHER SYNDROME TYPE 3B, CAPOS SYNDROME, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, RETINAL CONE DYSTROPHY 3B, DEAFNESS, AUTOSOMAL RECESSIVE 18B, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, DIAMOND-BLACKFAN ANEMIA 6, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, EPIDERMOLYTIC HYPERKERATOSIS, SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, FILS SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, 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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, 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}, LISSENCEPHALY 3, 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, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, ?LAURENCE-MOON SYNDROME, PAGET DISEASE OF BONE 6, COENZYME Q10 DEFICIENCY, PRIMARY, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, CRYOHYDROCYTOSIS, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PREMATURE OVARIAN FAILURE 9, JOUBERT SYNDROME 14, VICI SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, INTRINSIC FACTOR DEFICIENCY, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, CORNELIA DE LANGE SYNDROME 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, {EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO}, {EPILEPSY, IDIOPATHIC GENERALIZED, 10}, CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3, 5-OXOPROLINASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, DIAMOND-BLACKFAN ANEMIA 10, PELIZAEUS-MERZBACHER DISEASE, TYLOSIS WITH ESOPHAGEAL CANCER, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 17, LOEYS-DIETZ SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 21, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, NEPHRONOPHTHISIS 15, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, MCKUSICK-KAUFMAN SYNDROME, FACTOR VII DEFICIENCY, FAMILIAL MEDITERRANEAN FEVER, AD, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, BRACHYDACTYLY, TYPE A1, D, 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, MICROPHTHALMIA, ISOLATED 6, MASP2 DEFICIENCY, MYOCLONUS, FAMILIAL CORTICAL, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, HYPOTRICHOSIS 11, ?46XY SEX REVERSAL 5, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?RETINITIS PIGMENTOSA 66, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, ?JOUBERT SYNDROME 22, GELEOPHYSIC DYSPLASIA 1, MICROCEPHALY, AMISH TYPE, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, {EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1}, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, C4A DEFICIENCY, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HUNTINGTON DISEASE-LIKE 2, BRACHYDACTYLY, TYPE B1, ACHROMATOPSIA 7, CARDIOMYOPATHY, HYPERTROPHIC, 7, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, NEMALINE MYOPATHY 9, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 6, CZECH DYSPLASIA, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, 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, CHOREA, HEREDITARY BENIGN, MYOPATHY, MYOFIBRILLAR, 2, VESICOURETERAL REFLUX 8, MYOPATHY, TUBULAR AGGREGATE, 1, ACNE INVERSA, FAMILIAL, 2, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, CODAS SYNDROME, USHER SYNDROME, TYPE IJ, SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE, DEAFNESS, X-LINKED 4, DESANTO-SHINAWI SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, 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, 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, PSORIASIS 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, METHEMOGLOBINEMIA, TYPE IV, RIGHT ATRIAL ISOMERISM, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, ATRIAL FIBRILLATION, FAMILIAL, 14, HYPERFERRITINEMIA-CATARACT SYNDROME, PYRUVATE KINASE DEFICIENCY, LUJAN-FRYNS SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ?TRICHOTILLOMANIA, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, NEU-LAXOVA SYNDROME 2, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, EPILEPSY, NOCTURNAL FRONTAL LOBE, 5, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, 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, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, SPLIT-HAND/FOOT MALFORMATION 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, TENORIO SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ETHYLMALONIC ENCEPHALOPATHY, MUCOPOLYSACCHARIDOSIS IS, SHORT QT SYNDROME 2, ?DEAFNESS, X-LINKED 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, TREMOR, HEREDITARY ESSENTIAL, 4, HAILEY-HAILEY DISEASE, {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, BARDET-BIEDL SYNDROME 12, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PSORIASIS 14, PUSTULAR, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, KNIEST DYSPLASIA, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, 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, 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, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, 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, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, ?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, 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 RECESSIVE 2, HYPOPHOSPHATASIA, CHILDHOOD, RETINITIS PIGMENTOSA 42, MEGALOCORNEA 1, X-LINKED, PAGET DISEASE OF BONE 3, MENTAL RETARDATION, X-LINKED 58, DEAFNESS, AUTOSOMAL RECESSIVE 84A, DEAFNESS, AUTOSOMAL RECESSIVE 93, THROMBOCYTOPENIA 4, LERI-WEILL DYSCHONDROSTEOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, UTERINE LEIOMYOMA, CRANIOSYNOSTOSIS 6, MECKEL SYNDROME 4, MYOTONIC DYSTROPHY 2, BARDET-BIEDL SYNDROME 9, CILIARY DYSKINESIA, PRIMARY, 22, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, 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, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: LSS, TSC2, COL27A1, MSH6, CRIPT, VARS2, UROD, GPT2, GP1BA, AGRP, RPL5, FTL, GUSB, ENPP1, POLD1, ADAMTS18, LRRK2, SEMA4A, UNC45B, TRIP4, EGR2, PTRH2, SLC6A8, GAS8, FREM1, COG6, VCAN, AMBN, MS4A1, OCRL, DNAI2, CYP7B1, SLC16A12, MSX2, RPS24, GATM, CLRN1, GCSH, ARHGEF10, LRIT3, VSX1, RASA1, MYOC, FSHR, SH3BP2, MTTP, ENO3, CD79A, PAXIP1, DAG1, SNCB, ANTXR2, FGF17, ALAD, SPRED1, IRAK3, CHRND, NR1I3, SPARC, SPEG, C2CD3, ITPR1, GALNT3, DDHD1, EFTUD2, RPS10, PGAM2, LOXHD1, MLPH, CP, RMRP, PRKRA, PAX1, IL2RA, NDUFS3, IGLL1, DVL3, UFSP2, PDYN, CEP290, NDUFAF2, FOXC1, CASP10, CTDP1, PNPLA6, NDUFS7, GLDC, HES7, EFHC1, CENPE, AXIN1, WDR62, PRKCD, TANGO2, L2HGDH, ABCB4, RHBDF2, IMPG2, ACAT2, A2M, IL1B, ACTA2, EFNB1, FAR1, XRCC4, PAX4, TRIOBP, ADK, PARK7, HMBS, CUL4B, LRP5, HINT1, HNRNPK, LAMC2, NPHP1, PCDH15, PDE4D, RPL21, HPD, COMT, TSR2, P2RY12, CCDC65, AKR1C2, FOXRED1, TFAP2B, SEMA3D, COL4A3, RTN2, EHHADH, DNASE1, FCGR3A, SLC26A3, NLRP5, ERCC6, KCNB1, AMT, AKR1D1, GHRL, FANCL, HLA-C, ATXN3, ATP7A, POLR3B, CSRP3, KRT14, DPM2, IQSEC2, TSC1, MC4R, GCH1, ACTG2, NDUFS2, CTNNA1, PEX14, FAM58A, CYBA, SMN2, TRAIP, LRRC6, NAA10, SBF2, DDC, CRYBB3, RAI1, DGUOK, KIF2A, ST3GAL3, CYLD, THAP1, VPS37A, CDK4, TSG101, TAF4B, TRPM6, DNAH8, ROBO3, NBN, ERBB2, USH1C, MT-TL1, PET100, ABHD12, CD81, CYB5R3, COL9A1, SLC33A1, VAPB, DOK7, ALDOB, MTMR14, SLC17A8, PYGL, IL12B, MUTYH, ATP2A1, POC1B, C12orf57, CYB5A, HGD, EPX, FZD4, POC1A, CA12, EXOSC8, WWOX, THSD1, BBS2, POFUT1, GMPPB, GDNF, SLC6A19, LMAN2L, TAZ, GIPC3, ARID1B, GPHN, CRYBA2, KAT6A, NOBOX, FBXO31, BBS12, COL18A1, ALPL, NDUFB3, DNAJB6, FLT4, UBR1, MYT1L, GRXCR2, NIN, ALDH3A2, CCDC8, DMGDH, DHTKD1, PCSK1, ATXN1, KARS, TSEN54, SOX18, SLC52A1, LHX4, SFTPB, NIPA1, FREM2, ATP13A2, CEP19, ARHGAP11A, ITGA6, MT-ND3, DDX41, UQCC2, DYRK1A, AIMP1, XPR1, TRAC, ZC4H2, AQP2, SDHA, NTRK1, IFNAR2, HYLS1, MFSD2A, DRD3, IDS, F13B, SMIM1, TUBA4A, CACNA1C, RFX5, COL6A3, ADCK4, PMVK, CCDC174, MT-TQ, PEX10, CHRNA2, PCSK9, CHRNB1, FOXF1, ISPD, PMPCA, CD8A, EMC1, CFC1, ADGRE2, PDX1, SOD1, F2, LAMA1, CEP120, MED13L, STT3B, ADSL, FAS, SERPINB6, IKBKG, NRXN1, NDUFA1, KRT25, VPS53, MTHFR, AK2, DNAAF3, SNCA, FAM175A, CDH1, MED25, VPS13B, FRZB, STK11, OPLAH, FMR1, NDRG1, TTC19, MBL2, PNPLA2, ATP2B3, NOP56, CACNA1B, UGT1A4, BMPER, KCNQ2, KIAA1033, NF1, BMS1, ACTA1, GJA3, PABPN1, GRIP1, MYOM1, NT5C2, SMARCA4, HTR1A, FAM177A1, IL31RA, NDUFAF6, COQ4, FAM134B, GJB3, ARMC4, NCSTN, IGF2, CLUAP1, CCND1, SLC2A9, SYT14, ADCK3, ALDH6A1, NSD1, HEXA, ITGA2, ADCY10, KDM5C, NLGN4X, CRLF1, ACAD9, EBP, TALDO1, GLIS3, TUBB1, DPYD, LRTOMT, GUCY2C, ABCB7, CENPJ, CASQ1, AP1S2, COX14, PANK2, ACVR1, HAO1, CDON, PGAP2, ATL1, CALM2, DDX3X, SGCE, TNPO3, CNTN5, KIAA0586, SLC22A5, PAX2, ZNF469, NAT8L, OTX2, SLC9A6, LEMD3, KATNB1, ITGB2, CNNM2, KCNMA1, FHL1, FOXC2, HCN1, FBN1, PEX19, MCOLN1, PPP2R5D, IHH, ELAC2, DNAAF5, CA8, STXBP1, FGFR3, POLG2, STAT2, SOX10, GABRG2, ALAS2, FAH, NRAS, THOC2, DSPP, PDSS2, PRICKLE2, ADAT3, SPECC1L, DPM1, B9D1, NR5A1, TNFAIP3, PRPF4, GFRA1, AP3B1, TAF6, ERCC4, UPK3A, HFM1, TCF4, PEPD, KCNE2, PGAP3, RBCK1, PDE10A, WDR19, FASTKD2, FOXD3, PIP5K1C, DLAT, VAMP1, EDNRB, COQ6, ACTN2, MTR, SFTPC, PSPH, SLC25A12, CD46, ATXN7, PRDM8, DSG1, NDUFS8, HLCS, PAPSS2, KISS1, ICK, HMCN1, ACOX1, ZBTB24, SRD5A3, NDUFA11, GDF6, ERCC1, COL9A2, MLH1, IRF7, AGTR1, PHYH, GAN, CWF19L1, PGK1, OTOG, PRPS1, AARS, UGT1A1, SUFU, ALG2, SCN8A, ZMYND15, ROM1, ERCC2, CCDC50, COL13A1, RFX6, RSPH1, CD40, OPA3, NDUFB9, CNTNAP1, SETD2, ATP6V0A2, TGDS, RAF1, OSBPL2, CHD7, MEOX1, SETD5, TP53, CCDC170, DNAJC5, TNC, TRAPPC11, GLUL, AIPL1, PTGIS, DNAL1, LYRM7, BCKDHA, MEGF10, IFNG, PRX, RAX2, RELN, CHRNA4, OFD1, TGFBR1, EP300, PSEN2, AGBL1, GCDH, TNFRSF4, UBB, POMT2, GNS, BBS9, PCNA, DTNBP1, SSR4, JAM3, GDF2, CEP83, PLIN1, PTCH1, TNFRSF13B, TTR, WNT7A, TTC21B, STX11, SLC7A9, SFXN4, MRPS16, SERPINI1, GCK, NUP155, VPS35, KRT81, KRAS, ELANE, TSPAN12, C19orf12, SLC25A26, CFTR, TNFRSF13C, TAF2, ZNF711, SLC25A4, PAX6, KANK2, RAG1, SLC10A2, NUP93, PSAT1, GLRX5, SLC12A5, PI4KA, GAA, LYRM4, EPOR, GLE1, CRBN, FZD6, COL25A1, ASL, SAG, PLEKHG2, RAD54L, SPG11, KCNA2, BRF1, PALB2, STX1B, SOBP, GRHL2, INSR, STAP1, KIAA0196, SCN9A, SERPINH1, RNASET2, MSH2, C10orf2, CD3G, GLA, PMS2, STIL, TACO1, PLA2G6, POLR2F, ITGB3, WDR45, DNAJC3, FAT3, MIR96, NR0B2, NHP2, CHKB, DCAF17, MTRR, SLC22A18, NDUFA10, RNASEH2B, HBB, PROS1, TCTN3, LMNA, BCKDHB, ACADS, MID1, NALCN, CIITA, CNGB1, CR2, YARS2, SORL1, SPG21, RBBP8, RNASEH2C, UBA1, NSDHL, KCNH2, MYH14, KDM6A, PTPN14, SLC35D1, APOPT1, LRAT, RAB7A, JPH1, TRIM32, G6PC, WNK1, ASPM, GFI1B, PEX2, TNXB, LARGE1, LIPT1, MECOM, TECTA, MBD5, EVC, VLDLR, F7, IL1RN, SIK1, CDKN3, KCTD17, PTPN22, KIF21A, THRA, GNB3, C5, CABP2, MTOR, ASAH1, BLK, LEP, OPHN1, PIK3CD, AGRN, AIFM1, DSP, SMARCE1, NTHL1, AP2S1, TNNT1, AAAS, SGSH, RSPH3, MKKS, STEAP3, HYDIN, TUBGCP4, MAG, GNAS-AS1, XPNPEP3, ADAMTSL2, TYK2, GAMT, ARG1, KCNC1, SEPT9, DISC2, TAB2, BANF1, NCF2, MGME1, HSPB3, CTNNB1, LHFPL5, SMAD4, PIGY, DIS3L2, SRP72, IGHM, ITIH4, SLC6A5, LAMA3, KBTBD13, CLCN2, PPP2R1A, TUBB, TCTN1, RSPH4A, BBS7, RFXAP, RIPK4, INPPL1, AIP, SETD1A, RAD51, ALX3, NPHS1, GDAP1, TRMU, KRT86, GLI3, RBMX, CSNK1D, CTNS, MT-TH, ARL6, BGLAP, CD59, CHMP1A, TAC3, COX6A1, EYA1, PER3, STAG3, GPIHBP1, GIF, TGM5, GNAO1, CYBB, HGSNAT, HABP2, PIGL, LAMA2, AP4M1, THBS4, MYO3A, RARS, PLCB1, MT-CO2, D2HGDH, PTPRQ, COL6A1, CAMTA1, TPK1, CXCR4, FKTN, SEC23B, MMADHC, SNX14, DMXL2, GPX4, RAB40AL, BDNF, RNF113A, CD36, SOX11, LRP6, HLA-DQB1, EXPH5, FMN2, TMEM43, NR0B1, IFT27, SDHB, HRAS, MCM8, TAP2, SIGMAR1, DICER1, ARHGDIA, APOB, TECPR2, CPT2, SPATA5, MFN2, KIF1C, TM4SF20, FERMT3, MOCS2, CHCHD10, KLHL3, AP4B1, TMEM237, PDE11A, ABCD1, HARS2, EMP2, MCCC2, TMEM231, ADGRG6, WNT10A, KCNA1, WT1, NDUFB11, PEX11B, NEK8, SPRTN, GALNS, MBTPS2, SPAST, COL8A2, CYC1, MVD, NR2E3, ZNF408, PXDN, SF3B4, SERPING1, KYNU, ACAN, PEX26, HOXB1, SLC26A4, APOL4, TFAP2A, TMEM240, RSPO1, MPI, PDE8B, PURA, MC1R, IDH2, SLC19A3, DCXR, IL11RA, EDNRA, PRKAG2, MEF2C, C9orf72, POLG, CFAP53, MYO18B, KIF5C, NLRP3, DLX4, CSPP1, JUP, OTOA, PRKG1, CACNA1A, CCDC28B, SLC22A12, WDPCP, NLRC4, SLC6A17, RB1, BCAM, AICDA, ADD1, KCNK3, ATF6, CLN6, RNF170, STIM1, GRIN2B, SHH, ITGA8, DNM1, MT-ATP6, ADAR, BHLHE41, CBS, GHR, SLC17A9, PRICKLE1, OR2J3, AASS, COL4A4, SLC52A2, BMP2, FOXE3, HSD11B2, AKAP9, DRD2, PLP1, VDR, FIBP, PARK2, COQ9, EGFR, COG4, IKBKB, SCNN1G, ARL6IP1, UROS, UBQLN2, PSTPIP1, PRKCG, BVES, FARS2, NAGS, ABCB11, AP5Z1, NME8, GUCY1A3, PPARGC1B, KIT, SCYL1, IVD, CLCF1, PEX1, BARD1, C21orf59, MTFMT, TPMT, MYBPC1, FBLN1, JAGN1, PNKD, ITGB4, MRPS22, TYMP, GNAL, KMT2D, DDX58, TACR3, ZFYVE26, SLC52A3, DUOX2, ERMARD, CLPB, BLM, ACTN4, AMPD1, RBP3, PUS1, ATP1A3, POLR1C, AGA, SLC3A1, FTH1, PEX16, STRA6, MSRB3, ADA, LDHA, ALDH18A1, HSPG2, ESR1, HPGD, SERPINE1, SLC38A8, GATA2, ISCA2, DYRK1B, FECH, CRELD1, MMP2, CD3D, FSHB, PAFAH1B1, ATRX, CYP11B2, RPS26, ATP6V1B2, AGT, IGKC, CTNNA3, PPP1R3A, KDM1A, MAGEL2, FOXI1, NPHP4, RPGRIP1L, WNT5A, IKZF1, SLC12A3, ALG1, IL21R, TNNI3K, SEPSECS, PPP1R15B, RPL15, TH, COL10A1, LHB, KCND3, NPC1, ST3GAL5, SPAG1, HNRNPA1, MTO1, PRPH2, SLITRK1, ECM1, PRKACG, TSPEAR, B3GALT6, TMC1, VRK1, MOG, GBE1, UROC1, ICOS, TWIST2, QDPR, LMBRD1, GPC3, NDUFAF4, PLCE1, MID2, NOTCH2, PARN, SLURP1, TIA1, CAD, IL21, NPC2, SCNN1A, MT-TK, ACTN1, KRT1, GALT, GFPT1, DCX, PSMB8, DLX5, APTX, POGZ, ANLN, BCPR, LRSAM1, PFKM, EVC2, HMMR, TMEM173, ALDH5A1, FGD4, CREBBP, CLDN16, RPS6KA3, TFG, TMLHE, INS, DNM1L, MOCS1, SCN2B, KCNA5, FAM20C, CHMP2B, CD44, SETBP1, KIF14, KCNN4, C15orf41, WRAP53, SLC25A19, PITX3, TSFM, NEFH, CNTN1, SNTA1, VHL, CCT5, SNRPB, SMARCAL1, CLCN1, SOX17, TPP1, FN1, NGF, ADAMTS2, TUBGCP6, METTL23, MYH2, EDC3, DCTN1, HCCS, MTAP, ZBTB42, TERT, GRHPR, H19, PTEN, F13A1, PIK3R5, IDUA, PLG, EHMT1, CPA6, PRDM12, CCNO, CHEK2, PUF60, PHKG2, HPCA, RTN4IP1, HADH, AFP, STAMBP, KITLG, ENTPD1, POLE, BBS1, SCN5A, SLC1A4, C10orf11, GBA, SUCLG1, SERPINA6, ACD, STRADA, LIMS2, TARS2, GUCA1A, TMEM165, CRB2, NDUFS6, MYH8, OCLN, VPS45, GRIK2, TINF2, NARS2, TMEM199, KIF1BP, MFSD8, CASK, PNLIP, RHAG, FUCA1, MMP21, DISC1, PRPH, ANKS6, ACP5, SLC35A1, GLB1, SLC1A3, TGFBI, SLCO1B1, ACAT1, COL5A1, ARHGEF9, LIPN, NR4A2, KISS1R, TK2, DOCK2, CDKN2A, TENM4, NCF4, DHS6S1, TGM1, COX20, NDUFV2, SIX3, AFG3L2, COL4A2, CEP104, AUH, MATN3, ABCC2, ABHD5, MATR3, FBXO7, RRM2B, CATSPER1, EXT1, TAF1, VWF, NLRP12, ZNF592, TUBA1A, PNPLA8, FLCN, IDH1, GAS1, LMNB1, SLC16A1, TPM3, DNAJB2, GARS, ARFGEF2, HELLS, CANT1, SPG20, LONP1, POMGNT2, MPL, KCNV2, ALG10, TJP2, ZIC3, FAM20A, TUBG1, ASCL1, LIM2, MAOA, NUP107, SLC7A7, ITK, ADGRV1, VPS13C, GLUD1, PSENEN, SLC39A5, GALNT14, PAX8, VPS33B, QARS, SLX4, REN, CSF2RB, AHSG, WDR81, COL4A1, INF2, SGCA, KCNQ1OT1, MECP2, PDCD1, ATPAF2, DNAJC6, ANKLE2, KIF1B, MAK, BBS10, FGF20, KRT71, CCND2, CYP4V2, EXT2, RMND1, BRCA1, SRD5A2, LDLR, EXOSC3, PIEZO1, TMEM126A, GABRA1, AMPD2, TBC1D7, MT-TS1, GATA6, LITAF, ARSB, SELE, ADAM10, SERPINA1, ACVRL1, PNPT1, ANGPTL3, LCK, CSF3R, PDK3, FLNA, POLR3A, SMS, MAMLD1, PMP22, PDHA1, SLC34A3, ANK2, PRKACA, CD19, TRPS1, BLVRA, PDGFB, ARHGAP26, CPS1, RPGR, PLCG2, DRD5, CDKN1B, PDGFRA, MT-ND5, DPAGT1, DCC, FASLG, CYP3A5, PIGA, ASPN, COL4A3BP, STX16, PHGDH, RNF168, MMAA, HFE2, HPS1, PORCN, CORO1A, CALM1, RPSA, PITX1, RASGRP2, PIGW, CC2D2A, LBR, CUL3, LAMB1, KRIT1, POGLUT1, DBT, HDC, BBS5, SNRPE, SLC6A3, SLC5A5, IL17RD, B2M, GALK1, SPINK1, HSPB1, RANBP2, ESCO2, MCCC1, FH, RSPO4, PHF8, AGK, TTC8, POR, TGFBR2, MAFB, KLK4, DGKE, MYOT, NF2, SCN4A, ZFYVE27, F9, SLC26A2, SLC39A8, SHMT1, SKIV2L, SYNE1, CFH, MT-ND6, ALG11, KIAA0556, CBL, KCNJ1, FKRP, GPC6, ANO3, NKX2-1, IMPG1, HSPD1, CHAT, MT-CYB, ABCD4, FGD1, GAD1, TNNT2, SH2D1A, FBXL4, HTR2A, ANKRD11, AHI1, ACVR1B, SYT2, OAT, RBM28, SERPINC1, HNF1B, NDUFA12, NLGN3, ETV6, CD40LG, CRTAP, CTSD, TTC7A, NUP62, PNKP, AP4E1, FLVCR1, MMACHC, TAPBP, ICR1, DNAH14, SIPA1L3, GYG1, KCNQ3, SLC5A1, COX15, KRT17, SCN2A, UNC119, SLC19A1, PEX13, PDE6G, NRL, PEX5, ECHS1, MUSK, XPC, CFP, CYP2U1, AHDC1, PER2, SDHAF1, CSF1R, SLC2A1, TNFRSF11A, SLC9A1, TGM6, SLC46A1, DIABLO, ERCC6L2, FAT4, RFXANK, DCDC2, PDHX, DNAAF1, ABCA3, SPRY4, STAT3, DYX1C1, ENG, PDSS1, HLA-B, CPT1C, HMGB3, MPV17, PCCA, KIF7, CTSC, PAK3, HMGA2, CCDC88C, MEF2A, SNAP25, POMK, TYR, DHCR24, COX7B, RDH11, P2RX1, EXOC8, MALT1, PCK1, NOP10, RAB28, B3GALNT2, MITF, GJB6, TREX1, LRP4, NCF1, MYC, POMT1, F5, SEMA3E, PSEN1, JPH3, PDGFRL, ANO5, PCCB, ZIC1, ASCC1, PNPO, ACY1, KMT2A, LIPH, SLC25A1, SYCP3, PTRF, SPTAN1, PODXL, MT-CO3, AKR1C4, CYP11B1, S1PR2, TYROBP, CACNB4, DLL4, CD79B, CLCN7, CLP1, ATN1, TUB, SOX9, BFSP2, MED23, FOXL2, FGF9, NDUFAF1, HOMER2, SLC30A10, PKLR, CABP4, C12orf65, TTC37, SMAD9, SACS, AMACR, SCARB2, SNIP1, CFL2, RPS29, ZHX2, GTPBP3, KCNE1, B9D2, HDAC8, KMT2C, EARS2, CD247, ADAMTS10, KLC2, EDN3, TCIRG1, DYNC2H1, PPP1R17, CARTPT, GLRA1, CHIT1, FGF23, PIGM, BOLA3, BRAF, SLC35A2, PIGR, APP, GNPTG, BLNK, ILDR1, RSPRY1, TMEM70, KRT5, SLC7A14, CHST8, RIT1, SNRPN, CYP27B1, DSC2, EEF2, MICU1, MT-ND4L, NFKB2, ANKH, KCNJ5, B4GALNT1, MT-TS2, TNFRSF11B, SCN4B, KL, SLC5A7, FGFR1, NAGLU, PEX3, FAM111B, ITPA, SLC16A2, CLIC2, KRT10, TCTN2, SMC1A, LMNB2, ATP2B2, SLC20A2, AP1S3, SEC24D, PGAP1, UMOD, KCNH1, KANSL1, TUBB4A, DYNC1H1, TLR2, IFT140, OTC, SHOXY, SH2B3, AR, CHRNE, SLC12A6, ACTG1, NIPAL4, ASXL1, KCNJ10, RORC, ABCB6, CYP1B1, DVL1, PCLO, PEX7, MUT, TFR2, ASNS, SERAC1, NIPBL, ZSWIM6, IL6, DCN, HCFC1, APC, DHFR, ASPA, ADAM17, PTPRF, CCDC151, FCGR2A, TNNI3, CHI3L1, RDH12, GPD1, SYNE2, HCN4, PLCB4, UCP1, C3AR1, ADRA2B, TNFRSF1A, SASS6, LCT, PRPF31, CST3, TPM1, BRCA2, SQSTM1, WNK4, PEX6, PLCD1, MUC1, CAV1, CTH, ADRB3, PMM2, GNAI3, MGAT2, CDK5, BEST1, BRIP1, ZEB2, SLC24A5, NEB, FAN1, UCP3, CCDC115, PRPF8, LIPE, PDE6D, TGFB2, TTBK2, TMEM98, JAG1, CRYM, ECEL1, FMO3, GRID2, CLMP, COL2A1, RBPJ, GLI2, NUBPL, AMN, EIF2B2, MT-TT, SYNE4, STT3A, RB1CC1, CDKL5, FCN3, PGM1, TACSTD2, KRT85, MYF6, POU3F4, CCM2, KIF5A, AP4S1, ATXN10, MOGS, NNT, CNTN2, MSMO1, HADHA, JAK2, DEPDC5, ABCA7, MMP13, NFKBIA, RPS17, DSE, TSHZ1, C3, ERCC5, DHODH, SAMHD1, UQCRQ, NDUFA9, RBP4, CYP2D6, GP6, DKC1, USH2A, ALX4, ABCC8, HAX1, XK, GNB4, DDHD2, HPRT1, PDE6H, FBXO38, SDHD, FRMD4A, FAM111A, HLA-DRB1, SYN1, GAL, TXN2, BICD2, BBS4, BCS1L, RAPSN, FA2H, LTBP2, ROR2, PLK4, HIBCH, PHC1, SAMD9, SETX, ITPR2, FUS, COQ2, SALL2, PRSS23, MT-ND1, DNA2, RTN4R, LAMC3, ISG15, DIP2B, EOGT, ACADSB, RPS7, TBCK, ABCD3, AMER1, ZNF141, SLC13A5, CLN3, GRIN2A, FGF14, SMARCB1, IL17RA, DOCK8, FOXG1, SYNJ1, FAM126A, CETP, TRAPPC9, TBX18, CEACAM16, UQCRB, HERC2, CLIC5, DEAF1, CBX2, SGCG, THOC6, MSX1, DRC1, CACNA1S, CLASP1, UCHL1, NBEAL2, HNMT, SMC3, CISD2, NDUFAF5, CD27, HTRA1, MT-CO1, TUFM, SLC36A2, SPTLC1, TSPAN7, ISCU, HCRT, IGSF1, CAV3, CLDN14, DNAJC19, CNBP, CHRNG, ELMOD3, PIGT, DNM2, TAP1, SEMA3A, RAB27A, RNASEH1, MYO5A, IFITM5, OCA2, VANGL1, TRAF3IP1, COX10, SLC25A22, COL9A3, MAN2B1, CCDC103, IBA57, EFEMP2, MASP2, MARS2, COQ7, DARS, HAL, SNAI2, PDGFRB, MTMR2, XYLT2, EIF2B4, UNG, HLA-DQA1, DNMT3B, WNT4, GRM1, ACE, ZNF644, APOA2, CIB2, LGI1, HOXD10, RIPPLY2, CPOX, EPHX1, PIGG, PRRX1, TARDBP, SOX5, ALDH2, DOCK6, MT-ND2, CCDC114, ITM2B, ASS1, MT-TD, YARS, PDE3A, HTT, AVPR2, CRYAB, CCDC22, HDAC6, EPHX2, AP1S1, NDUFA2, KRT6C, SLC19A2, TRPA1, SART3, NDST1, KLHL41, CYP24A1, ZMYND10, PTPRC, IFNGR1, PITX2, ARHGAP31, TUBA8, TCAP, LARS, RAB39B, KLHL7, IL7R, SMARCA2, DYSF, SPR, ZIC2, NFIX, PRODH, ZNF513, TGFB3, DAOA, CASR, CTLA4, DMD, CHRNA1, PYGM, PYCR2, MIR204, EIF2AK4, TUBB2A, PRKDC, NDUFS1, VCP, CFI, CDHR1, MED12, PGM3, TOR1A, GFI1, MCM4, HSF4, ATP7B, ATP8A2, LDB3, ACADM, NKX2-5, RS1, SHANK3, DDOST, LPAR6, DSTYK, GJB1, NMNAT1, SUMF1, MT-ND4, DNAJC13, BIN1, PCDH19, HSD17B4, DHCR7, PRNP, ATP1B1, RPL35A, ATM, KCNJ18, NOS2, IER3IP1, FXN, CDAN1, AKT3, EIF2B3, DIAPH1, FGFR2, UQCC3, UBE3A, CPT1A, RPL11, SERPINB7, NKX3-2, L1CAM, WAC, ELOVL5, RET, SPTBN2, NTF3, KCNJ2, POU4F3, KCNQ4, HACE1, RNF125, CFHR1, ADCY6, BMPR1B, GOSR2, ATIC, PLEKHG4, CACNA1D, APOE, DCPS, SUOX, TMEM216, WDR73, NQO2, EPCAM, GNAS, IGF2R, COL3A1, RNASEH2A, DOCK7, RLBP1, ETHE1, VMA21, MMP19, SCN10A, ZNF423, SPTA1, GLYCTK, SLC17A5, PIEZO2, F8, NOG, DST, ITGA3, TBC1D24, BEAN1, ADRB2, MLYCD, MLC1, POMGNT1, PTCH2, ARSE, APOC2, SLC6A1, SBF1, ACTC1, MKS1, ATXN8, TRMT5, ANO10, SUGCT, IFIH1, LAMP2, GJB4, ERBB3, NDUFAF3, CEP135, PHKA2, POMC, COL6A2, P4HB, GATAD2B, CHAMP1, ALDH7A1, FOXE1, HS6ST1, GNRHR, BUB1B, ABAT, TSEN2, KIAA2022, MYO1A, BTD, CTSF, MYLK, MRE11A, TUBB2B, KLKB1, C4A, COMP, SUCLA2, CYP4F22, HNF4A, MAT1A, ATP2C1, TECR, VEGFC, MKRN3, FCGR2B, CLN5, NOL3, T, PPP2R2B, RAG2, TP63, DUSP6, DNMT3A, SLC12A1, GATA1, MAN1B1, TAPT1, LMOD3, AGL, MT-TE, PHB, SCNN1B, TMCO1, SLC4A1, TPM2, ZFPM2, IARS2, KRT83, CFB, PQBP1, INSL3, MYO7A, AKT1, TPI1, ZNF687, LRPPRC, NONO, VPS13A, EZH2, TWIST1, LOXL1, ERCC8, PTPRO, DNAH1, EDAR, HSPA9, ARSA, GNE, CUBN, DPP6, HAMP, NOD2, CTC1, MTM1, GJC2, POLA1, CHST3, EIF2B5, SPTLC2, TRIP11, TMEM5, PIGC, PINK1, SEPN1, UNC80, PROKR2, PIGN, POU6F2, DNAL4, PEX12, GMPPA, SPG7, DMPK, VPS11, PTPN11, NDUFS4, IQCB1, DNAAF2, CIDEC, COCH, COL5A2, WISP3, EDARADD, NEU1, GATA4, ZMPSTE24, VIPAS39, PDP1, CALR, PHKA1, BRAT1, EPS8, SLC6A20, DGAT1, UVSSA, FBP1, GTF2H5, ADCY1, EPM2A, PRDM5, HADHB, WNT10B, MMAB, NHLRC1, ACTB, GRN, MERTK, PIK3CA, COL1A2, GBA2, CFHR5, GFAP, GPSM2, IRF3, ITGA2B, G6PC3, BAAT, SH3TC2, ZBTB20, MYO1E, PRSS56, BAG3, PROK2, GDF5, DES, CYCS, MPO, SLC30A2, RUBCN, KCNT1, TERC, DLD, MYH3, CAPN3, HSD11B1, CHD2, IKBKAP, IL2RG, KIF1A, SBDS, FIG4, MCEE, RPS28, BLMH, SCN11A, SGCD, CLCNKA, GABRD, NME1, ALS2, DFNB59, RP9, NEXN, ERCC3, ATXN8OS, FRMD7, CSTB, GPI, CD3E, AFF4, MVK, GK, SCP2, TRDN, COL4A6, ZNF81, CDH23, HARS, BAP1, GDF1, PKHD1, SDC3, STS, CLCNKB, EPG5, RARB, SLC26A5, SOS2, SMAD6, DPH1, BMP1, FOLR1, IGF1, TREM2, DARS2, GNPTAB, SYNGAP1, SLC29A3, PTH1R, TMIE, UBE2T, AARS2, HBG2, SPATA16, NDN, FOXP3, NPHP3, FOXP1, FRAS1, TUBB8, ELN, MN1, AMPD3, BSND, SARS2, HK1, ERBB4, LZTR1, KIF4A, ANTXR1, REEP2, AIRE, NBAS, DLG3, SLC25A15, TTI2, PTS, PAX3, ATP2A2, MRPL3, RFT1, TGFB1, SLC39A4, SOST, MPDZ, COLQ, IGF1R, EIF2AK3, APPL1, TBCE, SCO1, NOS3, C5orf42, DNMT1, GM2A, NUDT15, SLC5A2, ADAMTSL4, NEFL, DCLRE1C, OTOF, FAM65B, TMEM67, MAPT, NECTIN1, ALOXE3, ZBTB18, SLC25A20, CFD, SURF1, ROGDI, RP1, SATB2, CAST, DCHS1, PHEX, CHM, PKD1, DCAF8, RAD21, OPN1LW, CDK6, CENPF, ANK1, STRC, KCNJ6, CHRDL1, TRAPPC2, NOTCH3, FLRT3, DNAH5, GALC, TSPYL1, NADK2, PLAU, IGHMBP2, MTPAP, EGLN1, DPYS, SALL4, SLC37A4, MAPRE2, ARX, LAMB2, MMP1, PLEKHG5, SLC25A38, XRCC3, DNAI1, COX4I2, ABCA1, COX8A, CC2D1A, LZTFL1, TBK1, ZDHHC15, HMGCS2, NECAP1, AFF2, PLEC, SLC2A10, CLCN5, NEK2, SMN1, PTF1A, TNF, SNAP29, SDHC, EDA, CEL, ATP1A2, GNAT1, HNRNPDL, GFM1, CACNA1F, PROC, ORAI1, ERLIN2, SNCAIP, MET, PDZD7, SLC25A46, IRF8, KRT16, EEF1A2, MYBPC3, PAH, FKBP14, DYM, SPRY2, MEGF8, GSC, SLC25A13, WAS, SLC35A3, PAM16, COL11A2, COL7A1, COA6, SLCO1B3, SMPD1, RPS14, HESX1, RD3, HSD17B10, PTDSS1, FOXP2, DSG2, PPM1D, SGO1, SDCCAG8, ZNF335, HSPB8, TBC1D20, MAB21L2, GNA11, USP9X, SLC34A2, CEP164, RDX, PPOX, TUBB3, PTCHD1, KLF1, MNX1, ATP5A1, TRPM4, ADAMTS13, SCN1A, KRT74, CTPS1, RHO, KIZ, PIGO, TTN, TSHR, RPS19, TRPV3, TRPV4, THBD, SDHAF2, ABCC6, HIKESHI, LIAS, KCNQ1, GCNT2, MYH7, STUB1, ATP8B1, EIF2B1, WNT3, BCL10, PHF6, AHNAK, ANK3, TBP, MYH9, COL11A1, MLLT11, NEK1, LRBA, TBX1, PPT1, ATP6AP2, MYPN, COL4A5, AUTS2, F12, PSAP, UPB1, F10, KHK, RARS2, ADNP, BSCL2, NPR2, IRF6, MPLKIP, CASP8, TRIM37, PRRT2, FLNB, ALG13, ECE1, SRCAP, GHSR, TRNT1, CARS2, MPC1, RXFP2, POLR1A, BBIP1, GDI1, COL1A1, POT1, ORC1, AMELX, BCAP31, BHLHA9, UBN1, STK10, PPARG, CERS1, DAO, MCIDAS, PRKAR1A, SZT2, OPN1MW, LMBR1, TCN2, CDSN, BTK, OVOL2, PLS3, RP1L1, COX6B1, SGCB, SLCO2A1, NEUROG3, TFRC, NDUFV1, XYLT1, CECR1, WHRN, WFS1, EMD, CLN8, GRIA3, TIMM8A, CYP2R1, HEPACAM, FBLN5, RBM8A, SLC25A32, ABCA12, SYN2, DIAPH3, PACS1, TLE6, CA5A, LRP1, LPIN1, RYR1, NPHS2, MORC2, AGXT, MARS, EIF4G1, COPA, SLC9A3, MRPL44, COA5, NSUN2, STAT1, ELOVL4, MPZ, SLC35C1, RTTN, RPIA, NR3C2, MYO6, NDP, DFNA5, REEP1, PCBD1, CCDC78, ACADVL, FERMT1, ADCY5, NFU1, CARD14, BMPR2, RNU4ATAC, FLNC, KCNJ11, CACNA1G, GJA1, CFHR3, INPP5E, IL10RB, RGS5, IL12RB1, COL17A1, KPTN, SCN1B, P2RX2, LAMB3, MTUS1, TRIM2, SIX1, FBN2, NDE1, GALE, SHOX, IL36RN, TRPC3, UQCRC2, GYS1, ACO2, PHOX2B, MED17, MAP2K2, COASY, ATL3, RP2, CDKN1C, APOL2, MPDU1, SIL1, RPE65, FKBP10, WDR34, NPPA, KCNC3, ADH1C, IL1RAPL1, RUNX2, SAR1B, SCO2, IFNGR2, MYH11, INVS, ACACA, GJB2, ATR, ATXN2, ZAK, APRT, IL17RC, SLC39A13, SMPX, NFKB1, KCTD7, BICC1, GRXCR1, CARD11, NOTCH1, IL10RA, CEP57, RPL26, FLVCR2, SIM1, KDR, APBB2, LIFR, MEFV, RTEL1, OPA1, TBX6, PC, TBXAS1, DOLK, ITGA7, NAGA, DLX3, GNRH1, TPRN, ARNT2, B4GAT1, PIK3R1, HSD3B7, HFE, GLUD2, FTO