INHERITANCE

Associated diseases: ATROPHODERMA VERMICULATUM, ROBINOW-SORAUF SYNDROME, SPERMATOGENIC FAILURE, Y-LINKED, 2, PEROXISOME BIOGENESIS DISORDER 5B, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, KOWARSKI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, PULMONARY ALVEOLAR MICROLITHIASIS, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MICROPHTHALMIA, ISOLATED 3, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, ACHONDROPLASIA, {THIOPURINES, POOR METABOLISM OF, 1}, MULIBREY NANISM, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 5, ALOPECIA UNIVERSALIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, FACTOR V DEFICIENCY, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CEROID LIPOFUSCINOSIS NEURONAL 6, AMELOGENESIS IMPERFECTA, TYPE IIA2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, HEMOCHROMATOSIS, TYPE 2B, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DYSAUTONOMIA, FAMILIAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPER-IGE RECURRENT INFECTION SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, MEDULLARY CYSTIC KIDNEY DISEASE 1, GLUCOCORTICOID DEFICIENCY 2, {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, LARON DWARFISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, ALPHA-2-MACROGLOBULIN DEFICIENCY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, RUIJS-AALFS SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 2, ALAGILLE SYNDROME 2, CARPENTER SYNDROME 2, ARTHROGRYPOSIS, DISTAL, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, CORNEA PLANA CONGENITA, RECESSIVE, ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, {ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2}, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), VAN DER WOUDE SYNDROME 2, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, C2 DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, JOUBERT SYNDROME 5, ATRIAL SEPTAL DEFECT 8, ?RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES, CARDIOMYOPATHY, DILATED, 3B, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HYPERPROINSULINEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, SPINOCEREBELLAR ATAXIA 15, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HYPERCHLORHIDROSIS, ISOLATED, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, ?NEUTROPHILIA, HEREDITARY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, SECKEL SYNDROME 7, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, CK SYNDROME, ATRIAL SEPTAL DEFECT 9, BENIGN FAMILIAL HEMATURIA, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, VOHWINKEL SYNDROME WITH ICHTHYOSIS, FLOATING-HARBOR SYNDROME, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, IRON-REFRACTORY IRON DEFICIENCY ANEMIA, BURKITT LYMPHOMA, SPINAL MUSCULAR ATROPHY-1, WOOLLY HAIR, AUTOSOMAL DOMINANT, PRADER-WILLI SYNDROME, {PARKINSON DISEASE 8}, MUCOPOLYSACCHARIDOSIS TYPE IIID, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, ACROMELIC FRONTONASAL DYSOSTOSIS, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, HOLT-ORAM SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 1, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, C8 DEFICIENCY, TYPE II, SEBASTIAN SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, SEIZURES, BENIGN NEONATAL, TYPE 2, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, MYOPATHY, MYOFIBRILLAR, 1, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, PENDRED SYNDROME, KAHRIZI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, EPISODIC KINESIGENIC DYSKINESIA 1, NESTOR-GUILLERMO PROGERIA SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 77, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, GHOSAL HEMATODIAPHYSEAL SYNDROME, ?CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), HYPOSPADIAS 1, X-LINKED, ?MECKEL SYNDROME 12, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, SPINOCEREBELLAR ATAXIA 19, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, UV-SENSITIVE SYNDROME 2, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, MUCOPOLYSACCHARIDOSIS VII, TRIGONOCEPHALY 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MODY, TYPE III, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, OOCYTE MATURATION DEFECT 1, ABLEPHARON-MACROSTOMIA SYNDROME, ?AL-GAZALI-BAKALINOVA SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 8/10, HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, MECONIUM ILEUS, MYOPATHY, CENTRONUCLEAR, 3, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRAGILE X SYNDROME, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LEBER CONGENITAL AMAUROSIS 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NEPHRONOPHTHISIS 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, HMG-COA SYNTHASE-2 DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, ?DEAFNESS, AUTOSOMAL RECESSIVE 61, JACKSON-WEISS SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, JOUBERT SYNDROME 23, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, RENAL CYSTS AND DIABETES SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, THRYOID DYSHORMONOGENESIS 6, ?CARDIOMYOPATHY, DILATED, 2A, LEBER CONGENITAL AMAUROSIS 12, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, MYOCLONIC-ATONIC EPILEPSY, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, DYSTONIA 26, MYOCLONIC, MUCOPOLYSACCHARIDOSIS IS, DEAFNESS, AUTOSOMAL RECESSIVE 29, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, ?SPERMATOGENIC FAILURE 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, CURRARINO SYNDROME, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, DEAFNESS, X-LINKED 1, MARFAN LIPODYSTROPHY SYNDROME, SICKLE CELL ANEMIA, CORTISONE REDUCTASE DEFICIENCY 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, XERODERMA PIGMENTOSUM, GROUP B, SPINOCEREBELLAR ATAXIA 11, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), CATARACT 19, MULTIPLE TYPES, SHAHEEN SYNDROME, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, CONE-ROD DYSTROPHY 20, BOTHNIA RETINAL DYSTROPHY, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CARDIOMYOPATHY, DILATED, 1V, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, SPONDYLOCOSTAL DYSOSTOSIS 5, MULTIPLE FIBROADENOMAS OF THE BREAST, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, ?MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE, PORENCEPHALY 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY, USHER SYNDROME, TYPE 1C, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, RETINITIS PIGMENTOSA 62, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, AMELOGENESIS IMPERFECTA, TYPE IIA1, CILIARY DYSKINESIA, PRIMARY, 25, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, WAARDENBURG SYNDROME, TYPE 4B, LEIOMYOMATOSIS AND RENAL CELL CANCER, RETINITIS PIGMENTOSA 65, CONE-ROD DYSTROPHY 15, ?SECKEL SYNDROME 6, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, COACH SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, 46XY SEX REVERSAL 9, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, COMBINED FACTOR V AND VIII DEFICIENCY, CONE-ROD DYSTROPHY 18, ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES, CILIARY DYSKINESIA, PRIMARY, 20, DEAFNESS, AUTOSOMAL RECESSIVE 98, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, NEUROFIBROMATOSIS-NOONAN SYNDROME, BORJESON-FORSSMAN-LEHMANN SYNDROME, PANHYPOPITUITARISM, X-LINKED, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MITCHELL-RILEY SYNDROME, OCCULT MACULAR DYSTROPHY, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, {OBESITY, SUSCEPTIBILITY TO, BMIQ14}, FARBER LIPOGRANULOMATOSIS, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, NEMALINE MYOPATHY 5, AMISH TYPE, FAZIO-LONDE DISEASE, PICK DISEASE, STORMORKEN SYNDROME, RETINITIS PIGMENTOSA 35, KABUKI SYNDROME 2, PROPIONICACIDEMIA, AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2, ADENOMAS, MULTIPLE COLORECTAL, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, RETINITIS PIGMENTOSA 17, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, HYPOPLASTIC OR APLASTIC TIBIA WITH POLYDACTYLY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, DEAFNESS, AUTOSOMAL DOMINANT 36, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, POLYDACTYLY, PREAXIAL, TYPE IV, AMELOGENESIS IMPERFECTA, TYPE IB, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, ALAND ISLAND EYE DISEASE, PERIODIC FEVER, FAMILIAL, CONGENITAL DISORDER OF DEGLYCOSYLATION, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, CUTIS LAXA, AUTOSOMAL DOMINANT 3, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, DYSTONIA 27, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, CINCA SYNDROME, SOTOS SYNDROME 1, ACHROMATOPSIA-2, VENTRICULAR SEPTAL DEFECT 3, RENAL TUBULAR DYSGENESIS, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, OCCIPITAL HORN SYNDROME, HEMOPHILIA A, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP O, TREACHER COLLINS SYNDROME 1, MARTSOLF SYNDROME, 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, TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, TRIPHALANGEAL THUMB, TYPE I, POLYDACTYLY, PREAXIAL TYPE II, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, AMYLOIDOSIS, FINNISH TYPE, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC, USHER SYNDROME, TYPE 2C, USHER SYNDROME, TYPE 2C, GPR98/PDZD7 DIGENIC, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, DEAFNESS, AUTOSOMAL RECESSIVE 28, VAN BUCHEM DISEASE, TYPE 2, IMMUNODEFICIENCY 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, SCLEROSTEOSIS 1, JOUBERT SYNDROME 10, DIHYDROPYRIMIDINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, [HISTIDINEMIA], ?INFANTILE LIVER FAILURE SYNDROME 1, PROLIDASE DEFICIENCY, CARBOXYPEPTIDASE N DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 56, COMBINED HYPERLIPIDEMIA, FAMILIAL, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, CATARACT 5, MULTIPLE TYPES, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 2}, LACTASE PERSISTENCE/NONPERSISTENCE, SPINOCEREBELLAR ATAXIA 35, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, NOONAN SYNDROME 10, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 4, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), {ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO}, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, DOYNE HONEYCOMB DEGENERATION OF RETINA, ?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, DEAFNESS, AUTOSOMAL DOMINANT 15, ?AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, WOODHOUSE-SAKATI SYNDROME, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, OHDO SYNDROME, X-LINKED, FIBROCHONDROGENESIS 1, AMELOGENESIS IMPERFECTA, TYPE IIA5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, ?WAISMAN SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ?SLOWED NERVE CONDUCTION VELOCITY, AD, CORNEAL DYSTROPHY, GROENOUW TYPE I, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, ?N SYNDROME, LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA, [URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, SPINOCEREBELLAR ATAXIA 38, DEAFNESS, AUTOSOMAL RECESSIVE 1B, POROKERATOSIS 1, MULTIPLE TYPES, NEU-LAXOVA SYNDROME 2, HAJDU-CHENEY SYNDROME, IRIDOGONIODYSGENESIS, TYPE 2, MYOPATHY, MYOFIBRILLAR, 3, TRANSIENT BULLOUS OF THE NEWBORN, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, RETINITIS PIGMENTOSA 11, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, GNATHODIAPHYSEAL DYSPLASIA, LESCH-NYHAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, OLIGOSYNAPTIC INFERTILITY, 3MC SYNDROME 1, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MECKEL SYNDROME 3, DEAFNESS, AUTOSOMAL DOMINANT 50, {SPECIFIC LANGUAGE IMPAIRMENT 5}, ERYTHROCYTOSIS, FAMILIAL, 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, IRIS HYPOPLASIA AND GLAUCOMA, IRIDOGONIODYSGENESIS, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, FACTOR XIIIA DEFICIENCY, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEBER CONGENITAL AMAUROSIS 15, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, CRANIOSYNOSTOSIS, TYPE 2, TRANSPOSITION OF GREAT ARTERIES, DEXTRO-LOOPED 3, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, JOUBERT SYNDROME 8, ISOVALERIC ACIDEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MICROVILLUS INCLUSION DISEASE, SJOGREN-LARSSON SYNDROME, MARSHALL SYNDROME, ZINC DEFICIENCY, TRANSIENT NEONATAL, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MACULAR DEGENERATION, EARLY-ONSET, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PSEUDOACHONDROPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, DIARRHEA 6, WILSON DISEASE, SENIOR-LOKEN SYNDROME 4, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, LONG QT SYNDROME 13, CILIARY DYSKINESIA, PRIMARY, 13, RENAL HYPODYSPLASIA, NONSYNDROMIC, 1, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, LYMPHEDEMA, HEREDITARY, IA, ?NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G, PARTINGTON SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 1, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, RETINITIS PIGMENTOSA 2, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, CAUDAL REGRESSION SYNDROME, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, ?LACRIMAL DUCT DEFECT, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, METATROPIC DYSPLASIA, SC PHOCOMELIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, {HASHIMOTO THYROIDITIS}, BETA-UREIDOPROPIONASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP T, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), SENIOR-LOKEN SYNDROME 5, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, FACTOR XII DEFICIENCY, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, NEPHRONOPHTHISIS 2, INFANTILE, MENTAL RETARDATION, X-LINKED 9, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, TRIGONOCEPHALY 2, CARDIOMYOPATHY, HYPERTROPHIC, 3, OROTIC ACIDURIA, HARTSFIELD SYNDROME, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, IMMUNODEFICIENCY 21, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, PNEUMOTHORAX, PRIMARY SPONTANEOUS, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3, DOWLING-DEGOS DISEASE 1, LIDDLE SYNDROME, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, NEU-LAXOVA SYNDROME 1, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?CARDIOMYOPATHY, DILATED, 2B, FRONTOMETAPHYSEAL DYSPLASIA, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, CENTRONUCLEAR MYOPATHY 5, DEAFNESS, AUTOSOMAL DOMINANT 41, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, EPIDERMOLYSIS BULLOSA, PRETIBIAL, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SICK SINUS SYNDROME 1, HAND-FOOT-UTERUS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, BURN-MCKEOWN SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [BOMBAY PHENOTYPE], HYPERLIPOPROTEINEMIA, TYPE IB, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?DIAMOND-BLACKFAN ANEMIA 11, GERODERMA OSTEODYSPLASTICUM, COMBINED SAP DEFICIENCY, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, MICROPHTHALMIA WITH LIMB ANOMALIES, PANCREATIC LIPASE DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 3, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, COLD-INDUCED SWEATING SYNDROME 2, MENTAL RETARDATION, X-LINKED 45, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, ?RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CATARACT, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, ?CHILBLAIN LUPUS 2, ATRIAL SEPTAL DEFECT 5, NEPHRONOPHTHISIS 3, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, XERODERMA PIGMENTOSUM, GROUP C, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, IMMUNODEFICIENCY 14, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, PRIMARY OPEN ANGLE GLAUCOMA, GLUCOCORTICOID RESISTANCE, METHYLMALONIC ACIDURIA CBLB TYPE, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8}, {EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2}, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, CONE-ROD DYSTROPHY 5, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, CATARACT 14, MULTIPLE TYPES, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, HYPEREKPLEXIA 3, OLMSTED SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, [BONE MINERAL DENSITY VARIABILITY 1], RETINITIS PIGMENTOSA 70, RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE, PAPILLON-LEFEVRE SYNDROME, JOUBERT SYNDROME 21, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, USHER SYNDROME, TYPE 1G, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, COENZYME Q10 DEFICIENCY, PRIMARY, 1, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, DEAFNESS, AUTOSOMAL DOMINANT 67, ?GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT, MEIER-GORLIN SYNDROME 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PARAMYOTONIA CONGENITA, OPITZ-KAVEGGIA SYNDROME, SENGERS SYNDROME, COLORBLINDNESS, TRITAN, DE SANCTIS-CACCHIONE SYNDROME, FRASIER SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, AGAMMAGLOBULINEMIA 4, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, ALPHA-FETOPROTEIN DEFICIENCY, DYSTONIA-11, MYOCLONIC, EPITHELIAL RECURRENT EROSION DYSTROPHY, 46,XX SEX REVERSAL, TYPE 2, MACULAR DYSTROPHY, VITELLIFORM, 2, EMBERGER SYNDROME, MANITOBA OCULOTRICHOANAL SYNDROME, CATARACT 6, MULTIPLE TYPES, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 3B, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, GILLESPIE SYNDROME, MYHRE SYNDROME, LAURIN-SANDROW SYNDROME, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, HYPERPROLINEMIA, TYPE I, MYOTONIA CONGENITA, RECESSIVE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, RETINITIS PIGMENTOSA 18, BLUE CONE MONOCHROMACY, CUTIS LAXA, AD, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, SPERMATOGENIC FAILURE 7, STEATOCYSTOMA MULTIPLEX, MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, CORNEAL ENDOTHELIAL DYSTROPHY AND PERCEPTIVE DEAFNESS, 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}, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, LONG QT SYNDROME-3, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, THROMBOCYTOPENIA 5, HYPERLIPOPROTEINEMIA, TYPE 1D, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, CONE-ROD DYSTROPHY 6, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, AROMATASE EXCESS SYNDROME, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, AORTIC VALVE DISEASE 1, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, WOLFF-PARKINSON-WHITE SYNDROME, ATAXIA-TELANGIECTASIA-LIKE DISORDER, METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, MULTIPLE SULFATASE DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, CEROID LIPOFUSCINOSIS, NEURONAL, 7, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, HEPATIC LIPASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 65, ?HYDROLETHALUS SYNDROME 2, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, AICARDI-GOUTIERES SYNDROME 5, CONE-ROD DYSTROPHY 2, SPLENIC HYPOPLASIA, PYRUVATE CARBOXYLASE DEFICIENCY, PRIMROSE SYNDROME, HYPERTENSION AND BRACHYDACTYLY SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PELGER-HUET ANOMALY, PARAGANGLIOMAS 2, TRANSALDOLASE DEFICIENCY, BARDET-BIEDL SYNDROME 6, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FEBRILE SEIZURES, FAMILIAL, 11, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SMITH-MCCORT DYSPLASIA, SENIOR-LOKEN SYNDROME 8, GLUTARIC ACIDURIA III, LYMPHEDEMA, HEREDITARY, III, [EOSINOPHIL PEROXIDASE DEFICIENCY], HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, CYCLIC VOMITING SYNDROME; CVS, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, ?CATARACT 45, DEAFNESS, AUTOSOMAL DOMINANT 2B, OSTEOGENESIS IMPERFECTA, TYPE VIII, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MENTAL RETARDATION, X-LINKED 99, JOUBERT SYNDROME 16, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, RETT SYNDROME, CONGENITAL VARIANT, ?DEAFNESS, AUTOSOMAL DOMINANT 68, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, ONCOCYTOMA, 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, [GLYOXALASE II DEFICIENCY], IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, ALLAN-HERNDON-DUDLEY SYNDROME, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, ?SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15, DEAFNESS, AUTOSOMAL RECESSIVE 49, COENZYME Q10 DEFICIENCY, PRIMARY, 2, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, CEREBRAL CAVERNOUS MALFORMATIONS-2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, ENDOCRINE-CEREBROOSTEODYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, EPILEPSY, FAMILIAL TEMPORAL LOBE, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ?MECKEL SYNDROME 9, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, OVARIAN DYSGENESIS 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, PSEUDOHYPOALDOSTERONISM, TYPE IID, MUCOPOLYSACCHARIDOSIS II, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, CHOROIDEREMIA, CITRULLINEMIA, ADULT-ONSET TYPE II, MENTAL RETARDATION, X-LINKED 29 AND OTHERS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME, DYSTONIA-12, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, OSTEOGENESIS IMPERFECTA, TYPE XI, DEAFNESS, AUTOSOMAL RECESSIVE 53, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, ACHONDROGENESIS, TYPE IA, MENTAL RETARDATION, X-LINKED 96, DEAFNESS, AUTOSOMAL RECESSIVE 21, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 94, DEAFNESS, AUTOSOMAL DOMINANT 10, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, UV-SENSITIVE SYNDROME 1, BAMFORTH-LAZARUS SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, NEPHRONOPHTHISIS 13, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEREDITARY PYROPOIKILOCYTOSIS, BJORNSTAD SYNDROME, HYPEREKPLEXIA HEREDITARY, HERMANSKY-PUDLAK SYNDROME 9, VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, BARTTER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED 46, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, FUMARASE DEFICIENCY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, JALILI SYNDROME, MENTAL RETARDATION, X-LINKED 41, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, 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, WARBURG MICRO SYNDROME 4, DEAFNESS, AUTOSOMAL DOMINANT 28, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, DEAFNESS, AUTOSOMAL RECESSIVE 30, DEAFNESS, AUTOSOMAL DOMINANT 3A, LI-FRAUMENI SYNDROME, MODY, TYPE I, TATTON-BROWN-RAHMAN SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {OSTEOARTHRITIS SUSCEPTIBILITY 2}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, RETINITIS PIGMENTOSA 13, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ?MYOSCLEROSIS, CONGENITAL, [SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES], [SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR], PLATELET GLYCOPROTEIN IV DEFICIENCY, DENTAL ANOMALIES AND SHORT STATURE, ?APLASIA CUTIS CONGENITA, NONSYNDROMIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, A, EPISODIC ATAXIA, TYPE 6, CRANIOECTODERMAL DYSPLASIA 3, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, CATARACT 13 WITH ADULT I PHENOTYPE, IMMUNODEFICIENCY 10, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {APLASTIC ANEMIA}, ECTOPIA LENTIS, FAMILIAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, 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, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 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, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, FOCAL FACIAL DERMAL DYSPLASIA 4, CARDIOMYOPATHY, HYPERTROPHIC, 4, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, AMELOGENESIS IMPERFECTA, TYPE IV, RITSCHER-SCHINZEL SYNDROME 2, UROFACIAL SYNDROME 2, CONE-ROD DYSTROPHY 19, RENPENNING SYNDROME, SPERMATOGENIC FAILURE 10, CARDIOMYOPATHY, DILATED, 1X, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, CARDIOMYOPATHY, HYPERTROPHIC, 17, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, GM1-GANGLIOSIDOSIS, TYPE II, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, AGAMMAGLOBULINEMIA 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, BRACHYDACTYLY, TYPE A2, GLUCOCORTICOID DEFICIENCY 4, HETEROTAXY, VISCERAL, 6, AUTOSOMAL RECESSIVE, UV-SENSITIVE SYNDROME 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11, COWDEN SYNDROME 7, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, HAMAMY SYNDROME, {?THYROID CANCER, NONMEDULLARY, 5}, ATAXIA-OCULOMOTOR APRAXIA 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ?SPINOCEREBELLAR ATAXIA 34, SPINOCEREBELLAR ATAXIA 42, IMMUNODEFICIENCY 46, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, CODAS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 2, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, DENT DISEASE 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, ENHANCED S-CONE SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, RETINITIS PIGMENTOSA-40, LONG QT SYNDROME 12, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BEHR SYNDROME, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 4, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, MONILETHRIX, ?MONILETHRIX, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, IMMUNODEFICIENCY, COMMON VARIABLE, 6, SECKEL SYNDROME 2, 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, SPECIFIC GRANULE DEFICIENCY, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, DANON DISEASE, VAN BUCHEM DISEASE, CORNELIA DE LANGE SYNDROME 5, HPRT-RELATED GOUT, BRACHIOOTIC SYNDROME 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, ?CARDIOMYOPATHY, HYPERTROPHIC, 19, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, ?STEEL SYNDROME, DEMENTIA, FAMILIAL DANISH, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, FILIPPI SYNDROME, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, ?RENAL HYPODYSPLASIA/APLASIA 2, NEMALINE MYOPATHY 6, AUTOSOMAL DOMINANT, GAUCHER DISEASE, TYPE IIIC, ACHEIROPODY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, INSOMNIA, FATAL FAMILIAL, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MICROPHTHALMIA, SYNDROMIC 2, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, SICK SINUS SYNDROME 2, ICHTHYOSIS, X-LINKED, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, LARSEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, C3 DEFICIENCY, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, CARDIOMYOPATHY, HYPERTROPHIC, 18, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18, [BILIRUBIN, SERUM LEVEL OF, QTL1], PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ALKAPTONURIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 31, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ?OPTIC ATROPHY 9, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, NAXOS DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 36, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FRANK-TER HAAR SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, KAPPA LIGHT CHAIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, HYPOTRICHOSIS 4, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CARPENTER SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, AMELOGENESIS IMPERFECTA, TYPE IIA3, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, LISSENCEPHALY 6, WITH MICROCEPHALY, WHITE SPONGE NEVUS 2, LYSYL HYDROXYLASE 3 DEFICIENCY, CATARACT 39, MULTIPLE TYPES, AUTOSOMAL DOMINANT, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, PARAGANGLIOMAS 3, IMMUNODEFICIENCY 12, HOLOPROSENCEPHALY-2, INFANTILE NEUROAXONAL DYSTROPHY 1, CULLER-JONES SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, RETINITIS PIGMENTOSA 59, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ANONYCHIA CONGENITA, NEURODEGENERATION WITH BRAIN IRON ACCULULATION 5, ?CATARACT 42, ATAXIA, CEREBELLAR, CAYMAN TYPE, GLYCOGEN STORAGE DISEASE IA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, NANCE-HORAN SYNDROME, ?WEBB-DATTANI SYNDROME, WAARDENBURG SYNDROME, TYPE 4A, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, PARKINSON DISEASE, JUVENILE, TYPE 2, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, ELLIPTOCYTOSIS-2, FAMILIAL ADENOMATOUS POLYPOSIS 3, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, EIKEN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, SCHNECKENBECKEN DYSPLASIA, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, HYPOKALEMIC PERIODIC PARALYSIS 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, IMMUNODEFICIENCY, COMMON VARIABLE, 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, CAVITARY OPTIC DISC ANOMALIES, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CATARACT 16, MULTIPLE TYPES, MYOPATHY, SPHEROID BODY, HYPERPROLINEMIA, TYPE II, SPINOCEREBELLAR ATAXIA 6, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, DEAFNESS, AUTOSOMAL DOMINANT 9, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, RETINITIS PIGMENTOSA 72, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, NORRIE DISEASE, HYPOCHONDROPLASIA, LEBER CONGENITAL AMAUROSIS 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SCOTT SYNDROME, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, DEAFNESS, AUTOSOMAL RECESSIVE 16, IMAGE SYNDROME, CHERUBISM, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, TRANSCOBALAMIN II DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ODONTOONYCHODERMAL DYSPLASIA, CATARACT 40, X-LINKED, DESBUQUOIS DYSPLASIA 1, DYSTONIA 24, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, KANZAKI DISEASE, MARSHALL-SMITH SYNDROME, MACULAR DYSTROPHY, VITELLIFORM, 3, PEROXISOME BIOGENESIS DISORDER 7B, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, CORTICAL MALFORMATIONS, OCCIPITAL, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, OVARIAN DYSGENESIS 4, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, ABCD SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, KARTAGENER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, 3-M SYNDROME 1, THROMBOCYTHEMIA 2, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, 3MC SYNDROME 2, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, DEAFNESS, AUTOSOMAL RECESSIVE 6, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LIANG DISTAL MYOPATHY, AMELOGENESIS IMPERFECTA, TYPE IH, ?DEAFNESS, AUTOSOMAL RECESSIVE 66, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HOLOPROSENCEPHALY-5, 2-METHYLBUTYRYLGLYCINURIA, DIAMOND-BLACKFAN ANEMIA 3, IMMUNODEFICIENCY 24, ?CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 3, [ECULIZUMAB, POOR RESPONSE TO], GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, TYROSINEMIA, TYPE II, 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, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, AORTIC ANEURYSM, FAMILIAL THORACIC 4, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, XANTHINURIA, TYPE I, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCONI ANEMIA, COMPLEMENTATION GROUP P, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RAINE SYNDROME, 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, TREACHER COLLINS SYNDROME 2, CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, CHORIODAL DYSTROPHY, CENTRAL AREOLAR 2, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, ARTHROGRYPOSIS, DISTAL, TYPE 8, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, HYPOTRICHOSIS 11, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, DEAFNESS, AUTOSOMAL RECESSIVE 25, [SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR], [SKIN/HAIR/EYE PIGMENTATION 6, BLUE/GREEN EYES], COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ANAUXETIC DYSPLASIA, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 8, PYCNODYSOSTOSIS, DENTIN DYSPLASIA, TYPE II, CARCINOID TUMORS, INTESTINAL, ARGININOSUCCINIC ACIDURIA, ?COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, SPINAL MUSCULAR ATROPHY-2, ?OTOFACIOCERVICAL SYNDROME, PEELING SKIN SYNDROME 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE XVII, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, {THYROID CANCER, NONMEDULLARY, 4}, CATARACT 1, MULTIPLE TYPES, BRACHYDACTYLY, TYPE C, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, MENTAL RETARDATION, X-LINKED 12/35, PRECOCIOUS PUBERTY, CENTRAL, 2, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, OROFACIODIGITAL SYNDROME IV, OROFACIODIGITAL SYNDROME V, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, {PANIC DISORDER, SUSCEPTIBILITY TO}, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, ?SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LONG QT SYNDROME 6, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID, CILIARY DYSKINESIA, PRIMARY, 33, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, JOUBERT SYNDROME 6, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, SPHEROCYTOSIS, TYPE 2, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, DEAFNESS, AUTOSOMAL RECESSIVE 59, ?ABRUZZO-ERICKSON SYNDROME, RETINOSCHISIS, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, BRACHYDACTYLY, TYPE A1, C, ICHTHYOSIS VULGARIS, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, HOLOPROSENCEPHALY-4, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NOONAN SYNDROME 9, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, DENYS-DRASH SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, NYSTAGMUS 1, CONGENITAL, X-LINKED, NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, CORTISONE REDUCTASE DEFICIENCY 1, TARSAL-CARPAL COALITION SYNDROME, FRAXE, LEUKODYSTROPHY, HYPOMYELINATING, 2, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MALFORMATION OF THE HEART, MALOUF SYNDROME, CARDIOMYOPATHY, DILATED, 1JJ, RABSON-MENDENHALL SYNDROME, MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS, ?POLYDACTYLY, POSTAXIAL, TYPE A6, CORNEAL DYSTROPHY, AVELLINO TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, PEELING SKIN SYNDROME 2, MUCOLIPIDOSIS IV, SYMPHALANGISM, PROXIMAL, 1A, WHITE-SUTTON SYNDROME, HEIMLER SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, RETICULAR DYSGENESIS, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, NOONAN SYNDROME 8, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, MEDNIK SYNDROME, CHAR SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, UROFACIAL SYNDROME 1, RETINITIS PIGMENTOSA 37, TRICHOHEPATOENTERIC SYNDROME 1, OVALOCYTOSIS, SA TYPE, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, PEROXISOME BIOGENESIS DISORDER 3B, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, FRUCTOSE INTOLERANCE, IMMUNODEFICIENCY 30, ?MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, PRIMARY LATERAL SCLEROSIS, JUVENILE, SPINOCEREBELLAR ATAXIA 21, MECKEL SYNDROME 7, BRITTLE CORNEA SYNDROME 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, NEPHROTIC SYNDROME, TYPE 2, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], GIANT AXONAL NEUROPATHY-1, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?DIAMOND-BLACKFAN ANEMIA 12, OVARIAN DYSGENESIS 1, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, MCLEOD SYNDROME WITH OR WITHOUT CHRONIC GRANULOMATOUS DISEASE, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, OSTEOGENESIS IMPERFECTA, TYPE VII, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ELLIS-VAN CREVELD SYNDROME, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, COLOBOMA, OCULAR, APPARENT MINERALOCORTICOID EXCESS, OCULOAURICULAR SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, KRABBE DISEASE, ?DIARRHEA 7, MENTAL RETARDATION, X-LINKED 19, ?GLYCOGEN STORAGE DISEASE XV, BRANCHIOOTIC SYNDROME 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MELEDA DISEASE, ICHTHYOSIS WITH CONFETTI, OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, GRACILE BONE DYSPLASIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, FIBROCHONDROGENESIS 2, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2, CARDIOMYOPATHY, HYPERTROPHIC, 16, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, ESCOBAR SYNDROME, PIEBALDISM, 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, BARDET-BIEDL SYNDROME 5, HETEROTOPIA, PERIVENTRICULAR, GALLBLADDER DISEASE 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ?OLMSTED SYNDROME, X-LINKED, CYSTINURIA, VON WILLEBRAND DISEASE, PLATELET-TYPE, AICARDI-GOUTIERES SYNDROME 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44, ?PARKINSONISM WITH SPASTICITY, X-LINKED, SALLA DISEASE, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, NEPHRONOPHTHISIS 11, ?CANDIDIASIS, FAMILIAL, 8, BOWEN-CONRADI SYNDROME, SENIOR-LOKEN SYNDROME 9, GLYCOGEN STORAGE DISEASE 0, MUSCLE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, LYMPHEDEMA, HEREDITARY, IC, GRISCELLI SYNDROME, TYPE 2, LEGG-CALVE-PERTHES DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, GRAY PLATELET SYNDROME, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, ACHROMATOPSIA-3, METHYLMALONIC ACIDURIA, MUT(0) TYPE, HYPERCHYLOMICRONEMIA, LATE-ONSET, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, DILATED, 1U, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], PULMONARY VENOOCCLUSIVE DISEASE 2, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, WARBURG MICRO SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, BASAL CELL NEVUS SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ?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, BASAL LAMINAR DRUSEN, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, GLASS SYNDROME, MYOPATHY, CENTRONUCLEAR, 4, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, BROWN-VIALETTO-VAN LAERE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 10, JOUBERT SYNDROME 25, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, DIAMOND-BLACKFAN ANEMIA 6, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, 3-M SYNDROME 3, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FANCONI ANEMIA, COMPLEMENTATION GROUP E, WARBURG MICRO SYNDROME 2, MORBID OBESITY AND SPERMATOGENIC FAILURE, CONGENITAL DIAPHRAGMATIC HERNIA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, ?BARDET-BIEDL SYNDROME 19, EPISODIC ATAXIA/MYOKYMIA SYNDROME, LOEYS-DIETZ SYNDROME 2, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), LONG QT SYNDROME 5, ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 4}, IMMUNODEFICIENCY 43, SPERMATOGENIC FAILURE 12, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, GAUCHER DISEASE, PERINATAL LETHAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CEROID LIPOFUSCINOSIS, NEURONAL, 5, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, TOENAIL DYSTROPHY, ISOLATED, FILS SYNDROME, HMG-COA LYASE DEFICIENCY, NORUM DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, NEPHRONOPHTHISIS 12, CARDIOMYOPATHY, DILATED, 1HH, EXUDATIVE VITREORETINOPATHY 5, POIKILODERMA WITH NEUTROPENIA, ATRICHIA WITH PAPULAR LESIONS, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, OPITZ GBBB SYNDROME, TYPE I, RETINITIS PIGMENTOSA 38, MECKEL SYNDROME 10, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, BEAULIEU-BOYCOTT-INNES SYNDROME, ESSENTIAL HYPERTENSION, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, MIYOSHI MUSCULAR DYSTROPHY 3, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, OPTIC ATROPHY 1, CATARACT 20, MULTIPLE TYPES, PARKINSON DISEASE 1, ?MENTAL RETARDATION, X-LINKED 100, DIAMOND-BLACKFAN ANEMIA 13, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, RUBINSTEIN-TAYBI SYNDROME, DEMENTIA, FAMILIAL, NONSPECIFIC, AGNATHIA-OTOCEPHALY COMPLEX, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, TEMPLE-BARAITSER SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, RHABDOMYOSARCOMA, SOMATIC, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, PONTOCEREBELLAR HYPOPLASIA TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34, EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, APHAKIA, CONGENITAL PRIMARY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1F, AUTOSOMAL RECESSIVE, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, ?IMMUNODEFICIENCY 13, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, CATARACT 10, MULTIPLE TYPES, SCHAAF-YANG SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {KURU, SUSCEPTIBILITY TO}, CATARACT 44, STIFF SKIN SYNDROME, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CATARACT 12, MULTIPLE TYPES, AL-RAQAD SYNDROME, COLD-INDUCED SWEATING SYNDROME 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, NEPHROTIC SYNDROME, TYPE 10, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, RETINITIS PIGMENTOSA 74, MYOTONIC DYSTROPHY 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, DEAFNESS, AUTOSOMAL RECESSIVE 67, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, NEPHRONOPHTHISIS 1, JUVENILE, VISCERAL MYOPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?JOUBERT SYNDROME 26, ?PERIVENTRICULAR NODULAR HETEROTOPIA 6, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, MARINESCO-SJOGREN SYNDROME, LEBER CONGENITAL AMAUROSIS 16, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1D, AUTOSOMAL RECESSIVE, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, COMPLEMENT FACTOR H DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, NASU-HAKOLA DISEASE, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, ALPORT SYNDROME, IMINOGLYCINURIA, DIGENIC, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), CYSTATHIONINURIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PACHYONYCHIA CONGENITA 1, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ?PONTOCEREBELLAR HYPOPLASIA TYPE 5, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, 46XY SEX REVERSAL 6, MCARDLE DISEASE, PANCREATIC AGENESIS 2, ?SECKEL SYNDROME 8, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, AMINOACYLASE 1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 6B, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, D-2-HYDROXYGLUTARIC ACIDURIA, PORENCEPHALY 2, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, OROFACIODIGITAL SYNDROME I, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ACROMICRIC DYSPLASIA, BRITTLE CORNEA SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, HYPOPHOSPHATEMIC RICKETS, ?SNEDDON SYNDROME, CATARACT 2, MULTIPLE TYPES, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PANCREATIC AGENESIS 1, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, NEPHROTIC SYNDROME, TYPE 3, PARAGANGLIOMAS 4, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, PARAGANGLIOMAS 5, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RETINITIS PIGMENTOSA 41, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPHEROCYTOSIS, TYPE 1, RETINITIS PIGMENTOSA 71, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, IMMUNODEFICIENCY 9, RETINITIS PIGMENTOSA 60, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, HYPOPHOSPHATASIA, INFANTILE, DEAFNESS AND MYOPIA, [PREMATURE CHROMATID SEPARATION TRAIT], AMYOTROPHIC LATERAL SCLEROSIS 19, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, JERVELL AND LANGE-NIELSEN SYNDROME 1, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, EPILEPSY, PROGRESSIVE MYOCLONIC 7, ALSTROM SYNDROME, {RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ?OROFACIODIGITAL SYNDROME XIV, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 20, ?DEAFNESS, AUTOSOMAL DOMINANT 4B, ?IMMUNODEFICIENCY 37, [PENTOSURIA], MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, INTERSTITIAL LUNG AND LIVER DISEASE, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, ZIMMERMANN-LABAND SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, DISTAL, 4, ?ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE, STICKLER SYNDROME, TYPE I, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY, BARDET-BIEDL SYNDROME 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, SPINOCEREBELLAR ATAXIA 28, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, MENTAL RETARDATION, X-LINKED 1, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AURICULOCONDYLAR SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, TOOTH AGENESIS, SELECTIVE, 7, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, STARGARDT DISEASE 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, PROGRESSIVE MYOCLONUS EPILEPSY WITH ATAXIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, CEROID LIPOFUSCINOSIS, NEURONAL, 8, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, PIERSON SYNDROME, LEBER OPTIC ATROPHY AND DYSTONIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BIRT-HOGG-DUBE SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27, BARDET-BIEDL SYNDROME 8, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, ATRIAL FIBRILLATION, FAMILIAL, 12, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, RIBOFLAVIN DEFICIENCY, PERRAULT SYNDROME 3, 46XY SEX REVERSAL 7, 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, NEUTROPENIA, CYCLIC, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10, AURAL ATRESIA, CONGENITAL, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, OPTIC ATROPHY 3 WITH CATARACT, DEAFNESS, AUTOSOMAL DOMINANT 1, OGUCHI DISEASE-1, PITT-HOPKINS-LIKE SYNDROME 2, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, MENTAL RETARDATION, FRA12A TYPE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SYNDACTYLY, TYPE V, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORPUS CALLOSUM AGENESIS, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ACHROMATOPSIA 6, RETINAL CONE DYSTROPHY 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SPINOCEREBELLAR ATAXIA 13, HYPERGLYCINURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, INFANTILE LIVER FAILURE SYNDROME 2, SPLIT-HAND/FOOT MALFORMATION 4, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, CAFFEY DISEASE, PACHYONYCHIA CONGENITA 2, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCINE ENCEPHALOPATHY, ALZHEIMER DISEASE-2, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, GAPO SYNDROME, STICKLER SYNDROME, TYPE II, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, HAWKINSINURIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?SPERMATOGENIC FAILURE 6, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, SED CONGENITA, JAWAD SYNDROME, MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), LYMPHOPROLIFERATIVE SYNDROME 1, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CILIARY DYSKINESIA, PRIMARY, 27, LATHOSTEROLOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, BARDET-BIEDL SYNDROME 13, DEAFNESS, AUTOSOMAL RECESSIVE 24, PREMATURE OVARIAN FAILURE 5, EDICT SYNDROME, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, VOHWINKEL SYNDROME, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, CRANIOECTODERMAL DYSPLASIA 2, [SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN], [SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR], [SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES], MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOSPADIAS 2, X-LINKED, LISSENCEPHALY 3, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, ABETALIPOPROTEINEMIA, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CONE-ROD DYSTROPHY 21, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, KENNY-CAFFEY SYNDROME, TYPE 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, BLEEDING DISORDER, PLATELET-TYPE, 11, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, VENTRICULAR SEPTAL DEFECT 2, MECKEL SYNDROME 5, LIPASE DEFICIENCY, COMBINED, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 5, CILIARY DYSKINESIA, PRIMARY, 16, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, MITRAL VALVE PROLAPSE 2, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, [ACETYLATION, SLOW], ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9, MYOPIA 24, AUTOSOMAL DOMINANT, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MAST CELL DISEASE, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, RETINAL CONE DYSTROPHY 4, ATAXIA-OCULOMOTOR APRAXIA 3, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 15, LADD SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, ATRIAL FIBRILLATION, FAMILIAL, 10, PREIMPLANTATION EMBRYONIC LETHALITY, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, [SHORT SLEEPER], ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, EXOSTOSES, MULTIPLE, TYPE 1, HYPOTRICHOSIS 6, VERHEIJ SYNDROME, HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MANNOSIDOSIS, ALPHA-, TYPES I AND II, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, AICARDI-GOUTIERES SYNDROME 4, FAILURE OF TOOTH ERUPTION, PRIMARY, ?STICKLER SYNDROME, TYPE V, MIRROR MOVEMENTS 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 20, [BLOOD GROUP, VEL SYSTEM], AMELOGENESIS IMPERFECTA, TYPE III, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CILIARY DYSKINESIA, PRIMARY, 29, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, DEAFNESS, AUTOSOMAL DOMINANT 11, HERMANSKY-PUDLAK SYNDROME 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, RETINITIS PIGMENTOSA, ?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, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, MYOPATHY, TUBULAR AGGREGATE, 2, ANGIOEDEMA, HEREDITARY, TYPES I AND II, CEREBROTENDINOUS XANTHOMATOSIS, EPILEPSY, FAMILIAL TEMPORAL LOBE, 5, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, DEAFNESS, AUTOSOMAL DOMINANT 4A, ?PROGESTERONE RESISTANCE, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, ?UROCANASE DEFICIENCY, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, JOUBERT SYNDROME 2, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PERLMAN SYNDROME, NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SPINOCEREBELLAR ATAXIA 27, WARSAW BREAKAGE SYNDROME, RETINITIS PIGMENTOSA 68, IMMUNODEFICIENCY 35, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, CRANIOSYNOSTOSIS 4, [FRUCTOSURIA], BRUGADA SYNDROME 1, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 11, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, WRINKLY SKIN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, PERRAULT SYNDROME 1, COLORBLINDNESS, PROTAN, 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, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GALACTOKINASE DEFICIENCY WITH CATARACTS, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, LONG QT SYNDROME 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, KBG SYNDROME, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPLIT-HAND/FOOT MALFORMATION 6, DEAFNESS, AUTOSOMAL RECESSIVE 79, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SPEECH-LANGUAGE DISORDER-1, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, LEBER OPTIC ATROPHY, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], RHEUMATOID ARTHRITIS, CRANIOSYNOSTOSIS 3, HYPERBILIVERDINEMIA, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, DERMATOPATHIA PIGMENTOSA RETICULARIS, ?TETRA-AMELIA SYNDROME, CITRULLINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, JOUBERT SYNDROME 15, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, VIBRATORY URTICARIA, LONG QT SYNDROME 15, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, HEIMLER SYNDROME 2, BRACHYDACTYLY, TYPE A1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL, LEBER CONGENITAL AMAUROSIS 17, WAARDENBURG SYNDROME, TYPE 4C, CILIARY DYSKINESIA, PRIMARY, 30, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, JOUBERT SYNDROME 24, DEAFNESS, AUTOSOMAL RECESSIVE 22, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, KLEEFSTRA SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL1], TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), WOOLLY HAIR, AUTOSOMAL RECESSIVE 2 WITH OR WITHOUT HYPOTRICHOSIS, HYPOTRICHOSIS 7, CANAVAN DISEASE, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?PREMATURE OVARIAN FAILURE 10, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, NEPHRONOPHTHISIS 18, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, CORNEAL DYSTROPHY, SCHNYDER TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, ATRIAL SEPTAL DEFECT 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, SPINOCEREBELLAR ATAXIA 8, CARPAL TUNNEL SYNDROME, FAMILIAL, IMMUNODEFICIENCY, COMMON VARIABLE, 13, MYOPATHY, MYOFIBRILLAR, 4, GLYCOGEN STORAGE DISEASE IC, HYPOTRICHOSIS 12, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, GROWTH HORMONE INSENSITIVITY, PARTIAL, MEIER-GORLIN SYNDROME 2, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 52, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, [GILBERT SYNDROME], ADAMS-OLIVER SYNDROME 2, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MYOPIA 6, PARKINSON DISEASE 6, EARLY ONSET, MYASTHENIC SYNDROME, CONGENITAL, 16, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, MUCOLIPIDOSIS III ALPHA/BETA, HYPERLYSINEMIA, LIPOPROTEIN LIPASE DEFICIENCY, VAN MALDERGEM SYNDROME 2, RETINITIS PIGMENTOSA 20, XERODERMA PIGMENTOSUM, VARIANT TYPE, DICARBOXYLIC AMINOACIDURIA, 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, METACHONDROMATOSIS, SACCHAROPINURIA, FAMILIAL MEDITERRANEAN FEVER, AD, SED, MAROTEAUX TYPE, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, TARP SYNDROME, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MAY-HEGGLIN ANOMALY, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ECTOPIA LENTIS ET PUPILLAE, HYPOURICEMIA, RENAL, 2, {URIC ACID CONCENTRATION, SERUM, QTL 2}, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, DEAFNESS, AUTOSOMAL DOMINANT 13, ?PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2, ROIFMAN SYNDROME, {BLEPHAROSPASM, PRIMARY BENIGN}, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1E, AUTOSOMAL RECESSIVE, ALBINISM, OCULOCUTANEOUS, TYPE VII, ANEMIA, SIDEROBLASTIC, 1, JERVELL AND LANGE-NIELSEN SYNDROME 2, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CONE-ROD DYSTROPHY, X-LINKED, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 20, EPISODIC PAIN SYNDROME, FAMILIAL, FRONTOTEMPORAL DEMENTIA, COLE DISEASE, PARKINSON DISEASE 21, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, POROKERATOSIS 3, MULTIPLE TYPES, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ?RETINITIS PIGMENTOSA 67, CEROID LIPOFUSCINOSIS, NEURONAL, 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 5, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?CATARACT 43, BONE MARROW FAILURE SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, SILVER-RUSSELL SYNDROME, COMPLEMENT FACTOR D DEFICIENCY, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, DEAFNESS, AUTOSOMAL DOMINANT 23, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, ?MICROPHTHALMIA, SYNDROMIC 13, ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, MICROPHTHALMIA, ISOLATED 6, AMYOTROPHIC LATERAL SCLEROSIS 11, ALBINISM, OCULOCUTANEOUS, TYPE III, ?REYNOLDS SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DUANE-RADIAL RAY SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, RETINITIS PIGMENTOSA 58, MYXOMA, INTRACARDIAC, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, TYROSINEMIA, TYPE III, WIEDEMANN-STEINER SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, DEAFNESS, AUTOSOMAL RECESSIVE 37, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, HEMOCHROMATOSIS, TYPE 2A, ?POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL, MITOCHONDRIAL MYOPATHY WITH DIABETES, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, {AUTISM, SUSCEPTIBILITY TO, 18}, ?PERRAULT SYNDROME 2, CENANI-LENZ SYNDACTYLY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, THYROID DYSHORMONOGENESIS 2A, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, ISCHIOCOXOPODOPATELLAR SYNDROME, OMODYSPLASIA 1, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKOENCEPHALOPATHY WITH ATAXIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, C SYNDROME, CARDIOMYOPATHY, DILATED, 1E, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, DIAMOND-BLACKFAN ANEMIA 8, CARDIOMYOPATHY, HYPERTROPHIC, 12, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, VELOCARDIOFACIAL SYNDROME, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, PRIMARY PULMONARY HYPERTENSION, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, IMMUNODEFICIENCY 19, [BLOOD GROUP, DUFFY SYSTEM], HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, COFFIN-SIRIS SYNDROME 3, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, ACNE INVERSA, FAMILIAL, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, NEUROFIBROMATOSIS, FAMILIAL SPINAL, [PHENYLTHIOCARBAMIDE TASTING], EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ACHONDROGENESIS IB, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, ?DEAFNESS, AUTOSOMAL RECESSIVE 104, CYLINDROMATOSIS, FAMILIAL, MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6, EPIDERMAL NEVUS, HYPOMAGNESEMIA 6, RENAL, VAN DEN ENDE-GUPTA SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ?FEBRILE SEIZURES, FAMILIAL, 4, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, PAROXYSMAL NONKINESIGENIC DYSKINESIA, MENTAL RETARDATION, X-LINKED 98, GAUCHER DISEASE, TYPE I, ?OSTEOGENESIS IMPERFECTA, TYPE XII, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?OROFACIAL CLEFT 15, 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, [GLYCEROL QUANTITATIVE TRAIT LOCUS], MODY, TYPE II, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, CRYPTORCHIDISM, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MYASTHENIC SYNDROME, CONGENITAL, 5, DEAFNESS, AUTOSOMAL DOMINANT 6/14/38, WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, DEAFNESS, AUTOSOMAL RECESSIVE 76, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, KOHLSCHUTTER-TONZ SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, MECKEL SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, KINDLER SYNDROME, ?DEAFNESS, AUTOSOMAL DOMINANT 44, HELSMOORTEL-VAN DER AA SYNDROME, ALAGILLE SYNDROME, LANGER MESOMELIC DYSPLASIA, RETINITIS PIGMENTOSA 57, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPONDYLOPERIPHERAL DYSPLASIA, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, OROFACIODIGITAL SYNDROME VI, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, DYSTONIA 25, ALAZAMI SYNDROME, OCULAR ALBINISM, TYPE I, NETTLESHIP-FALLS TYPE, ?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, ADRENAL CORTICAL CARCINOMA, MICROPHTHALMIA, ISOLATED 8, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CHYLOMICRON RETENTION DISEASE, TRABOULSI SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, OSTEOGENESIS IMPERFECTA, TYPE III, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, HYALINE FIBROMATOSIS SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, HEPATIC ADENOMA, SOMATIC, CILIARY DYSKINESIA, PRIMARY, 26, CARDIOMYOPATHY, DILATED, 1LL, LEFT VENTRICULAR NONCOMPACTION 8, CILIARY DYSKINESIA, PRIMARY, 23, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, [SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN], ALBINISM, OCULOCUTANEOUS, TYPE VI, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, GITELMAN SYNDROME, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, NEMALINE MYOPATHY 10, ?RETINITIS PIGMENTOSA 51, KLIPPEL-FEIL SYNDROME 2, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, FUHRMANN SYNDROME, BRACHYDACTYLY, TYPE B1, 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, SEA-BLUE HISTIOCYTE DISEASE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, XERODERMA PIGMENTOSUM, GROUP D, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, MYOTONIA CONGENITA, DOMINANT, HEMOCHROMATOSIS, TYPE 3, DEAFNESS , AUTOSOMAL RECESSIVE 86, HETEROTAXY, VISCERAL, 7, AUTOSOMAL, CHONDROCALCINOSIS 2, BRODY MYOPATHY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, BARDET-BIEDL SYNDROME 10, OSTEOGENESIS IMPERFECTA, TYPE V, IMMUNODEFICIENCY 15, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ?EXUDATIVE VITREORETINOPATHY 6, USHER SYNDROME, TYPE 1B, RETINITIS PIGMENTOSA 10, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, THYROID DYSHORMONOGENESIS 3, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, TRICHODONTOOSSEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, OROFACIAL CLEFT 11, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, ?ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3, CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT, KAUFMAN OCULOCEREBROFACIAL SYNDROME, MENTAL RETARDATION, X-LINKED 93, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, LEBER CONGENITAL AMAUROSIS 9, ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, MEESMANN CORNEAL DYSTROPHY, MICROPHTHALMIA, SYNDROMIC 14, ?MENTAL RETARDATION, X-LINKED 91, ATRANSFERRINEMIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SCALP-EAR-NIPPLE SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RETINITIS PIGMENTOSA 73, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), OPSISMODYSPLASIA, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, MEVALONIC ACIDURIA, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, GLYCOGEN STORAGE DISEASE 0, LIVER, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?CATARACT 41, MOYAMOYA 6 WITH ACHALASIA, ATRIAL STANDSTILL 2, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, BOOMERANG DYSPLASIA, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, CD8 DEFICIENCY, FAMILIAL, LUSCAN-LUMISH SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, RETINITIS PIGMENTOSA 64, CONE-ROD DYSTROPHY 16, POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE, TROYER SYNDROME, FOVEAL HYPOPLASIA 1, PARKINSONISM-DYSTONIA, INFANTILE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, ?SPINOCEREBELLAR ATAXIA 40, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, AURICULOCONDYLAR SYNDROME 2, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, MIRROR MOVEMENTS 2, LIMB-MAMMARY SYNDROME, PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE, MECKEL SYNDROME 6, KRABBE DISEASE, ATYPICAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ?SECKEL SYNDROME 4, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 2}, ATRIAL FIBRILLATION, FAMILIAL, 7, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 10, SERKAL SYNDROME, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, OSTEOGENESIS IMPERFECTA, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, CRANIOECTODERMAL DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, TOOTH AGENESIS, SELECTIVE, 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, COHEN SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, OCULOECTODERMAL SYNDROME, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, RETINITIS PIGMENTOSA 56, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, GLYCOGEN STORAGE DISEASE IXC, SEIZURES, BENIGN FAMILIAL INFANTILE, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, MACULAR DYSTROPHY, VITELLIFORM, 5, ALCOHOL DEPENDENCE, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, TRYPSINOGEN DEFICIENCY, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1B, AUTOSOMAL RECESSIVE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, [SARCOSINEMIA], CLEFT PALATE WITH ANKYLOGLOSSIA, THROMBOCYTOPENIC PURPURA, AUTOIMMUNE, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], LEIGH SYNDROME, FRENCH-CANADIAN TYPE, AMELOGENESIS IMPERFECTA, TYPE IC, DEAFNESS, AUTOSOMAL RECESSIVE 70, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HYPOMAGNESEMIA 1, INTESTINAL, GLOMUVENOUS MALFORMATIONS, PROUD SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, FEBRILE SEIZURES, FAMILIAL, 3B, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 7, IMMUNODEFICIENCY, COMMON VARIABLE, 2, PLASMA FIBRONECTIN DEFICIENCY, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, SPERMATOGENIC FAILURE 9, CHILBLAIN LUPUS, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, GALACTOSE EPIMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, SPERMATOGENIC FAILURE 11, CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OROFACIAL CLEFT 7, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 3, EPILEPSY, PROGRESSIVE MYOCLONIC 1A (UNVERRICHT AND LUNDBORG), COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, [BLOOD GROUP, LUTHERAN NULL], NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36, PHYTANIC ACID STORAGE DISEASE, BARDET-BIEDL SYNDROME 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, IMMUNODEFICIENCY 42, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, BARTTER SYNDROME, TYPE 3, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ATRIOVENTRICULAR SEPTAL DEFECT 5, {PARKINSON DISEASE 17}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ?MECKEL SYNDROME 8, RENAL ADYSPLASIA, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, [C3HEX, ABILITY TO SMELL], PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, ACROCAPITOFEMORAL DYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MOHR-TRANEBJAERG SYNDROME, SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, EXUDATIVE VITREORETINOPATHY 2, X-LINKED, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, RING DERMOID OF CORNEA, ATELEIOTIC DWARFISM, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?FACIAL CLEFTING, OBLIQUE, 1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CILIARY DYSKINESIA, PRIMARY, 19, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, STAR SYNDROME, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HETEROTAXY, VISCERAL, 5, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SPINOCEREBELLAR ATAXIA 5, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, SPINOCEREBELLAR ATAXIA 7, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LIEBENBERG SYNDROME, LYSINURIC PROTEIN INTOLERANCE, {DYSLEXIA, SUSCEPTIBILITY TO, 2}, ?CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ATRIAL FIBRILLATION, FAMILIAL, 11, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EPISODIC PAIN SYNDROME, FAMILIAL, 3, DYSTONIA 6, TORSION, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CATARACT 18, AUTOSOMAL RECESSIVE, {NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO}, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, AGAMMAGLOBULINEMIA, X-LINKED 1, JOUBERT SYNDROME 17, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, GLUCOSE/GALACTOSE MALABSORPTION, EPISODIC ATAXIA, TYPE 2, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, SYSTEMIC LUPUS ERYTHEMATOSUS 16, STROMME SYNDROME, ACNE INVERSA, FAMILIAL, 3, PETERS-PLUS SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, BRACHYDACTYLY, TYPE E, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA, CALCIFICATION OF JOINTS AND ARTERIES, BARDET-BIEDL SYNDROME 16, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SMITH-LEMLI-OPITZ SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, DESMOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, {HODGKIN LYMPHOMA, SUSCEPTIBILITY TO}, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, ?IMMUNODEFICIENCY 16, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, MAST SYNDROME, SPINOCEREBELLAR ATAXIA 36, AMELOGENESIS IMPERFECTA, TYPE IA, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, URBACH-WIETHE DISEASE, COWCHOCK SYNDROME, CATARACT 4, MULTIPLE TYPES, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, KERATOSIS, SEBORRHEIC, SOMATIC, 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, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, 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, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, KEUTEL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, COUSIN SYNDROME, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPERMATOGENIC FAILURE 5, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, MANDIBULOACRAL DYSPLASIA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MACULAR CORNEAL DYSTROPHY, ?BARDET-BIEDL SYNDROME 15, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, HYPOMAGNESEMIA 2, RENAL, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 2A, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, RETINITIS PIGMENTOSA 1, GM1-GANGLIOSIDOSIS, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, POLYGLUCOSAN BODY MYOPATHY 2, PREMATURE OVARIAN FAILURE 8, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, ?BARDET-BIEDL SYNDROME 18, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, CHANARIN-DORFMAN SYNDROME, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, L-2-HYDROXYGLUTARIC ACIDURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CHONDROSARCOMA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, MACROCEPHALY/AUTISM SYNDROME, CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, OSTEOGENESIS IMPERFECTA, TYPE XIII, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SPASTIC PARAPLEGIA 2, X-LINKED, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {DYSLEXIA, SUSCEPTIBILITY TO, 1}, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MYOFIBROMATOSIS, INFANTILE 2, PERRAULT SYNDROME 5, CHILD SYNDROME, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, DARIER DISEASE, [SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN], [SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN], {UV-INDUCED SKIN DAMAGE}, JOUBERT SYNDROME 7, PCWH SYNDROME, BARDET-BIEDL SYNDROME 4, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, TYPE IV, [CHITOTRIOSIDASE DEFICIENCY], BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 8, AGAMMAGLOBULINEMIA 6, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, ?RETINITIS PIGMENTOSA 9, GLYCOGEN STORAGE DISEASE X, RITSCHER-SCHINZEL SYNDROME 1, USHER SYNDROME, TYPE 3A, WILSON-TURNER SYNDROME, THYROID DYSHORMONOGENESIS 4, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, ?SPASTIC PARAPLEGIA 63, ALEXANDER DISEASE, CATARACT 21, MULTIPLE TYPES, HEMOCHROMATOSIS, TYPE 4, PROPERDIN DEFICIENCY, X-LINKED, SILVER SPASTIC PARAPLEGIA SYNDROME, TREACHER COLLINS SYNDROME 3, SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, ?RETINITIS PIGMENTOSA 23, JOUBERT SYNDROME 18, SNOWFLAKE VITREORETINAL DEGENERATION, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, NANOPHTHALMOS 4, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, CILIARY DYSKINESIA, PRIMARY, 2, DIAMOND-BLACKFAN ANEMIA 7, CONE DYSTROPHY 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, LIPOID ADRENAL HYPERPLASIA, 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, HERMANSKY-PUDLAK SYNDROME 7, ?GLYCOGEN STORAGE DISEASE XIII, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, TEMTAMY SYNDROME, RIGHT ATRIAL ISOMERISM, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, NONAKA MYOPATHY, MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE, EARLY ONSET, ARTHROGRYPOSIS, DISTAL, TYPE 5, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ?NARCOLEPSY 7, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, DEAFNESS, AUTOSOMAL RECESSIVE 9, AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, AMYOTROPHIC LATERAL SCLEROSIS 20, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, ?AGAMMAGLOBULINEMIA 5, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1A, X-LINKED, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, SELECTIVE T-CELL DEFECT, JOUBERT SYNDROME 9, DEAFNESS, AUTOSOMAL DOMINANT 5, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, PULMONARY VENOOCCLUSIVE DISEASE 1, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, COLE-CARPENTER SYNDROME 2, 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, MACULAR DYSTROPHY, NORTH CAROLINA TYPE, PERIODONTITIS 1, JUVENILE, POROKERATOSIS 7, MULTIPLE TYPES, DIAMOND-BLACKFAN ANEMIA 5, BOUCHER-NEUHAUSER SYNDROME, CONE-ROD DYSTROPHY 11, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, ?RETINAL ARTERIES, TORTUOSITY OF, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, FANCONI-BICKEL SYNDROME, OGDEN SYNDROME, BILE ACID MALABSORPTION, PRIMARY, BRUCK SYNDROME 2, NEPHROPATHY DUE TO CFHR5 DEFICIENCY, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, DYSTONIA 9, HAIM-MUNK SYNDROME, NATIVE AMERICAN MYOPATHY, MACULAR DYSTROPHY, RETINAL, 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, COENZYME Q10 DEFICIENCY, PRIMARY, 4, RAPADILINO SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8, BECKWITH-WIEDEMANN SYNDROME, RETINITIS PIGMENTOSA 45, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, LIPOYLTRANSFERASE 1 DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, SPHEROCYTOSIS, TYPE 4, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ?MARDEN-WALKER SYNDROME, FEINGOLD SYNDROME 2, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, SYNDACTYLY, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 4, POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS, PEROXISOME BIOGENESIS DISORDER 14B, IMMUNODEFICIENCY 44, BRUNNER SYNDROME, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, CORNELIA DE LANGE SYNDROME 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FAMILIAL COLORECTAL CANCER, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, OVARIAN HYPERSTIMULATION SYNDROME, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY, ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CHOREOACANTHOCYTOSIS, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HARTNUP DISORDER, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, 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, ?DYSTONIA 23, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WELANDER DISTAL MYOPATHY, ?RETINAL DYSTROPHY AND OBESITY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], CATARACT 38, AUTOSOMAL RECESSIVE, NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME, ARTS SYNDROME, GM2-GANGLIOSIDOSIS, AB VARIANT, HOLOPROSENCEPHALY-9, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WEILL-MARCHESANI-LIKE SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, ?SPERMATOGENIC FAILURE 13, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, LEUKODYSTROPHY, HYPOMYELINATING, 6, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?HIP DYSPLASIA, BEUKES TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9, KERATITIS, 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, SUPRAVALVAR AORTIC STENOSIS, MULTIPLE ENDOCRINE NEOPLASIA 1, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CILIARY DYSKINESIA, PRIMARY, 18, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, TRIMETHYLAMINURIA, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, HYPERALDOSTERONISM, FAMILIAL, TYPE III, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, CARDIOMYOPATHY, DILATED, 1A, JOUBERT SYNDROME 13, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, TYROSINEMIA, TYPE I, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, GABA-TRANSAMINASE DEFICIENCY, ?MICROHYDRANENCEPHALY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, PLEUROPULMONARY BLASTOMA, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, DOWLING-DEGOS DISEASE 2, DEAFNESS, X-LINKED 2, PLASMA TRIGLYCERIDE LEVEL QTL, LOW, CPT DEFICIENCY, HEPATIC, TYPE IA, MUSCULAR DYSTROPHY, RIGID SPINE, 1, MACULAR DYSTROPHY, VITELLIFORM, 4, COENZYME Q10 DEFICIENCY, PRIMARY, 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, GAUCHER DISEASE, TYPE II, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, ROUSSY-LEVY SYNDROME, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, THYROID DYSHORMONOGENESIS 5, IMMUNODEFICIENCY, COMMON VARIABLE, 4, {METABOLIC SYNDROME, PROTECTION AGAINST}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, OSTEOGENESIS IMPERFECTA, TYPE XV, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, THYROID DYSHORMONOGENESIS 1, CATARACT 9, MULTIPLE TYPES, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, DYGGVE-MELCHIOR-CLAUSEN DISEASE, LIVER FAILURE, TRANSIENT INFANTILE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, PONTOCEREBELLAR HYPOPLASIA TYPE 2A, HYPOMYELINATION, GLOBAL CEREBRAL, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, SCHOPF-SCHULZ-PASSARGE SYNDROME, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, BRACHYOLMIA TYPE 3, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, CARDIOMYOPATHY, DILATED, 1CC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PROSTATE CANCER 1, ?NARCOLEPSY 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ANEMIA, SIDEROBLASTIC, 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, {WILMS TUMOR SUSCEPTIBILITY-5}, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, AMELOGENESIS IMPERFECTA, TYPE IF, FACTOR XIIIB DEFICIENCY, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, RETINITIS PIGMENTOSA 27, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, NEPHROLITHIASIS, TYPE I, MECKEL SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, NEUROPATHY, INFLAMMATORY DEMYELINATING, VACTERL ASSOCIATION, X-LINKED, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, DYSTONIA-PARKINSONISM, X-LINKED, PREGNANCY LOSS, RECURRENT, 4, SPERMATOGENIC FAILURE 4, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, ARTERIAL TORTUOSITY SYNDROME, WAARDENBURG SYNDROME, TYPE 2D, ATRIAL SEPTAL DEFECT 6, POLYMORPHOUS CORNEAL DYSTROPHY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, GALLOWAY-MOWAT SYNDROME, ?OTOFACIOCERVICAL SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES, GUTTMACHER SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NEPHROTIC SYNDROME, TYPE 11, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4, MEIER-GORLIN SYNDROME 5, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, GRISCELLI SYNDROME, TYPE 3, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ARTHROGRYPOSIS, DISTAL, TYPE 5D, FUCOSIDOSIS, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, SVEINSSON CHOREORETINAL ATROPHY, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, CHOREA, HEREDITARY BENIGN, PARKINSON DISEASE 20, EARLY-ONSET, CATARACT 22, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H, MECKEL SYNDROME 11, DEAFNESS, AUTOSOMAL RECESSIVE 63, FOLATE MALABSORPTION, HEREDITARY, RETICULATE ACROPIGMENTATION OF KITAMURA, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, PANCREATIC AND CEREBELLAR AGENESIS, WILMS TUMOR 2, TOOTH AGENESIS, SELECTIVE, 4, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, AICARDI-GOUTIERES SYNDROME 2, CYANOSIS, TRANSIENT NEONATAL, BROOKE-SPIEGLER SYNDROME, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, CARTILAGE-HAIR HYPOPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, BARTH SYNDROME, NIEMANN-PICK DISEASE, TYPE C2, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, LONG QT SYNDROME 14, USHER SYNDROME, TYPE 2D, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, OLIVER-MCFARLANE SYNDROME, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, CYSTINOSIS, OCULAR NONNEPHROPATHIC, MYELOPEROXIDASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CEREBRAL AMYLOID ANGIOPATHY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, SADDAN, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, RIDDLE SYNDROME, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, SHWACHMAN-DIAMOND SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, OPTIC ATROPHY PLUS SYNDROME, HYPEROXALURIA, PRIMARY, TYPE II, LACTASE DEFICIENCY, CONGENITAL, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CLEFT PALATE, ISOLATED, RENAL GLUCOSURIA, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, WHITE SPONGE NEVUS 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, DEAFNESS, AUTOSOMAL RECESSIVE 48, SPINOCEREBELLAR ATAXIA 31, MEIER-GORLIN SYNDROME 3, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT, DEMENTIA, FAMILIAL BRITISH, ?MUCOPOLYSACCHARIDOSIS TYPE IX, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, AVASCULAR NECROSIS OF THE FEMORAL HEAD, PARIETAL FORAMINA 2, HYDATIDIFORM MOLE, RECURRENT, 2, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, EPISODIC PAIN SYNDROME, FAMILIAL, 2, DEAFNESS, AUTOSOMAL DOMINANT 64, DESBUQUOIS DYSPLASIA 2, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, 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, HYPOTRICHOSIS 2, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, CILIARY DYSKINESIA, PRIMARY, 28, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION, CHOPS SYNDROME, ?HYPOTRICHOSIS 13, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?SPONDYLOCOSTAL DYSOSTOSIS 6, HYPOTRICHOSIS 8, AORTIC ANEURYSM, FAMILIAL THORACIC 6, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, CARDIOMYOPATHY, HYPERTROPHIC, 11, MACULAR DEGENERATION, X-LINKED ATROPHIC, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, C1Q DEFICIENCY, HOLOPROSENCEPHALY-3, SIALIC ACID STORAGE DISORDER, INFANTILE, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED 97, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ACUTE MYELOID LEUKEMIA, M6 TYPE, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8, {VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, COMPLEMENT FACTOR I DEFICIENCY, PAPILLARY THYROID CARCINOMA, ?PTOSIS, CONGENITAL, CORNEAL ENDOTHELIAL DYSTROPHY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, CONGENITAL SHORT BOWEL SYNDROME, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, AICARDI-GOUTIERES SYNDROME 6, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, 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, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, HEART-HAND SYNDROME, SLOVENIAN TYPE, TUMOR PREDISPOSITION SYNDROME, HYDATIDIFORM MOLE, RECURRENT, 1, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, OVARIAN RESPONSE TO FSH STIMULATION, PARIETAL FORAMINA 1, JOUBERT SYNDROME 20, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, NEUROCUTANEOUS MELANOSIS, SOMATIC, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, VAN DER WOUDE SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], LOEYS-DIETZ SYNDROME 4, COLORBLINDNESS, DEUTAN, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, ACROKERATOSIS VERRUCIFORMIS, RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, ADAMS-OLIVER SYNDROME 3, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FAVISM, ?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, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SYNDACTYLY, TYPE IV, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MICROPHTHALMIA, ISOLATED 5, PARKINSON DISEASE 19, JUVENILE-ONSET, AGAMMAGLOBULINEMIA 2, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), PORETTI-BOLTSHAUSER SYNDROME, EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, DENT DISEASE, DEJERINE-SOTTAS DISEASE, METACHROMATIC LEUKODYSTROPHY, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, PARASTREMMATIC DWARFISM, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, DEAFNESS, AUTOSOMAL RECESSIVE 74, MYOPATHY, DISTAL, TATEYAMA TYPE, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISEASE 2, ?MICROPHTHALMIA, SYNDROMIC 11, DEAFNESS, AUTOSOMAL RECESSIVE 68, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, JOHANSON-BLIZZARD SYNDROME, {MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1}, PRION DISEASE WITH PROTRACTED COURSE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, SPERMATOGENIC FAILURE, X-LINKED, 2, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MENTAL RETARDATION, X-LINKED SYNDROMIC 5, PAROXYSMAL EXTREME PAIN DISORDER, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, STUTTERING, FAMILIAL PERSISTENT, 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, GLUTATHIONE SYNTHETASE DEFICIENCY, MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, BENT BONE DYSPLASIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA 14, CILIARY DYSKINESIA, PRIMARY, 21, USHER SYNDROME TYPE 3B, CAPOS SYNDROME, OOCYTE MATURATION DEFECT 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RETINAL CONE DYSTROPHY 3B, DEAFNESS, AUTOSOMAL RECESSIVE 18B, ?THROMBOXANE SYNTHASE DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, IMMUNODEFICIENCY 40, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, EPIDERMOLYTIC HYPERKERATOSIS, GLUTAMINE DEFICIENCY, CONGENITAL, SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, [FLECK RETINA, FAMILIAL BENIGN], HYPOPLASTIC LEFT HEART SYNDROME 2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5, SCLEROSTEOSIS 2, HYPOPHOSPHATEMIC RICKETS, AR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, {GLIOBLASTOMA 3}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, 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, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, C8 DEFICIENCY, TYPE I, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, {PSORIASIS SUSCEPTIBILITY 1}, ?PRECOCIOUS PUBERTY, CENTRAL, 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, WOLFRAM SYNDROME 2, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, MILLER SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 29, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, {AUTISM SUSCEPTIBILITY, X-LINKED 2}, MENTAL RETARDATION, X-LINKED, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, LEFT VENTRICULAR NONCOMPACTION 7, COFFIN-SIRIS SYNDROME 4, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, ?LAURENCE-MOON SYNDROME, PAGET DISEASE OF BONE 6, COENZYME Q10 DEFICIENCY, PRIMARY, 5, DEAFNESS, AUTOSOMAL RECESSIVE 35, CRYOHYDROCYTOSIS, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PREMATURE OVARIAN FAILURE 9, JOUBERT SYNDROME 14, VICI SYNDROME, NIEMANN-PICK DISEASE, TYPE A, COFFIN-SIRIS SYNDROME 2, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, KEPPEN-LUBINSKY SYNDROME, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, SPERMATOGENIC FAILURE 3, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, {?OBESITY, SUSCEPTIBILITY TO, BMIQ18}, INTRINSIC FACTOR DEFICIENCY, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, PREMATURE OVARIAN FAILURE 1, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, CORNELIA DE LANGE SYNDROME 1, {EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO}, {EPILEPSY, IDIOPATHIC GENERALIZED, 10}, FISH-EYE DISEASE, 5-OXOPROLINASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, CARDIOMYOPATHY, HYPERTROPHIC, 25, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 10, ?CRANIOECTODERMAL DYSPLASIA 4, PELIZAEUS-MERZBACHER DISEASE, TYLOSIS WITH ESOPHAGEAL CANCER, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 17, LOEYS-DIETZ SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 21, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, SMITH-MCCORT DYSPLASIA 2, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, NEPHRONOPHTHISIS 15, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 5, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, MCKUSICK-KAUFMAN SYNDROME, ?CATARACT 30, PULVERULENT, FACTOR VII DEFICIENCY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, BRACHYDACTYLY, TYPE A1, D, SMED STRUDWICK TYPE, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, FOVEAL HYPOPLASIA 2, WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS, ADAMS-OLIVER SYNDROME 6, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, MASP2 DEFICIENCY, MYOCLONUS, FAMILIAL CORTICAL, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, BRUGADA SYNDROME 9, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE, MEIER-GORLIN SYNDROME 1, ?46XY SEX REVERSAL 5, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?RETINITIS PIGMENTOSA 66, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, SORSBY FUNDUS DYSTROPHY, ?JOUBERT SYNDROME 22, ATRIAL FIBRILLATION, FAMILIAL, 9, EPIDERMODYSPLASIA VERRUCIFORMIS, GELEOPHYSIC DYSPLASIA 1, MICROCEPHALY, AMISH TYPE, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, {EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1}, MASA SYNDROME, CRASH SYNDROME, BRACHYDACTYLY, TYPE B2, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, C4A DEFICIENCY, BRACHYDACTYLY, TYPE D, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HUNTINGTON DISEASE-LIKE 2, METACARPAL 4-5 FUSION, PERRAULT SYNDROME 4, ACHROMATOPSIA 7, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, CARDIOMYOPATHY, HYPERTROPHIC, 7, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, RETINITIS PIGMENTOSA 69, NEMALINE MYOPATHY 9, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, {OBESITY, SEVERE, SUSCEPTIBILITY TO, BMIQ9}, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 6, CZECH DYSPLASIA, MANNOSIDOSIS, BETA, ENTEROKINASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MICROPHTHALMIA WITH COLOBOMA 5, DIGEORGE SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, MUCOLIPIDOSIS II ALPHA/BETA, AXENFELD-RIEGER SYNDROME, TYPE 1, CEREBROCOSTOMANDIBULAR SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, [NOVELTY SEEKING PERSONALITY], MYOPATHY, MYOFIBRILLAR, 2, GLYCOGEN STORAGE DISEASE VI, VESICOURETERAL REFLUX 8, MYOPATHY, TUBULAR AGGREGATE, 1, ACNE INVERSA, FAMILIAL, 2, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, USHER SYNDROME, TYPE IJ, SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE, DEAFNESS, X-LINKED 4, DESANTO-SHINAWI SYNDROME, ?HYPERPROLACTINEMIA, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, COENZYME Q10 DEFICIENCY, PRIMARY, 7, EBD, BART TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BART-PUMPHREY SYNDROME, THYROID HORMONE RESISTANCE, 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, {MACULAR DEGENERATION, AGE-RELATED, 2}, DEAFNESS, AUTOSOMAL RECESSIVE 7, CORNEAL OPACIFICATION AND OTHER OCULAR ANOMALIES, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PULMONARY HYPERTENSION, PRIMARY, 2, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6, SPHEROCYTOSIS, TYPE 3, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, DU PAN SYNDROME, PITYRIASIS RUBRA PILARIS, IRIS HYPOPLASIA AND GLAUCOMA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, SULFITE OXIDASE DEFICIENCY, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, DIGITAL CLUBBING, ISOLATED CONGENITAL, TREMOR, HEREDITARY ESSENTIAL, 5, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MUCOLIPIDOSIS III GAMMA, METHEMOGLOBINEMIA, TYPE IV, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, ATRIAL FIBRILLATION, FAMILIAL, 14, HYPERFERRITINEMIA-CATARACT SYNDROME, PYRUVATE KINASE DEFICIENCY, LUJAN-FRYNS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ?TRICHOTILLOMANIA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, LYNCH SYNDROME I, EPILEPSY, NOCTURNAL FRONTAL LOBE, 5, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, {BUDD-CHIARI SYNDROME}, PSORIASIS 2, MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, VITREORETINOCHOROIDOPATHY, TIETZ ALBINISM-DEAFNESS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, KOOLEN-DE VRIES SYNDROME, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, LEUKODYSTROPHY, HYPOMYELINATING, 13, WAARDENBURG SYNDROME, TYPE 3, USHER SYNDROME, TYPE 1F, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, SOTOS SYNDROME 2, SPLIT-HAND/FOOT MALFORMATION 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, TENORIO SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ETHYLMALONIC ENCEPHALOPATHY, KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SHORT QT SYNDROME 2, AMELOGENESIS IMPERFECTA, TYPE IIA4, ?DEAFNESS, X-LINKED 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, BLEEDING DISORDER, PLATELET-TYPE, 15, SHPRINTZEN-GOLDBERG SYNDROME, TREMOR, HEREDITARY ESSENTIAL, 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HAILEY-HAILEY DISEASE, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SENIOR-LOKEN SYNDROME-1, LEBER CONGENITAL AMAUROSIS 13, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PSORIASIS 14, PUSTULAR, SECKEL SYNDROME 5, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, KNIEST DYSPLASIA, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, ?MULTIPLE SYNOSTOSES SYNDROME 3, OPTIC NERVE HYPOPLASIA, MENTAL RETARDATION, X-LINKED 21/34, XERODERMA PIGMENTOSUM, TYPE 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, CALCIUM OXALATE UROLITHIASIS, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, OPTIC ATROPHY 7, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, IMMUNODEFICIENCY 8, SECKEL SYNDROME 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MYOPIA 22, AUTOSOMAL DOMINANT, ENCEPHALOPATHY, NEONATAL SEVERE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, CONE-ROD DYSTROPHY 10, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, MALONYL-COA DECARBOXYLASE DEFICIENCY, KABUKI SYNDROME 1, MYOPATHY DUE TO CPT II DEFICIENCY, ?HYPOTRICHOSIS AND RECURRENT SKIN VESICLES, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, 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}, SPINOCEREBELLAR ATAXIA 23, WOLCOTT-RALLISON SYNDROME, MUCKLE-WELLS SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, HEMOPHILIA B, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, WEAVER SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 30, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATASIA, CHILDHOOD, RETINITIS PIGMENTOSA 42, ANDERSEN SYNDROME, MEGALOCORNEA 1, X-LINKED, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, CRANIOSYNOSTOSIS, TYPE 1, PAGET DISEASE OF BONE 3, MENTAL RETARDATION, X-LINKED 58, ICHTHYOSIS BULLOSA OF SIEMENS, DEAFNESS, AUTOSOMAL RECESSIVE 84A, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, DEAFNESS, AUTOSOMAL RECESSIVE 93, THROMBOCYTOPENIA 4, LERI-WEILL DYSCHONDROSTEOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, UTERINE LEIOMYOMA, DEAFNESS, AUTOSOMAL RECESSIVE 84B, CRANIOSYNOSTOSIS 6, DEAFNESS, AUTOSOMAL RECESSIVE 18A, 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, ALPHA-METHYLACETOACETIC ACIDURIA, NEPHROTIC SYNDROME, TYPE 6, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, ?MYOPATHY, SCAPULOHUMEROPERONEAL, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, TANGIER DISEASE, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: LSS, CA2, TSC2, COL27A1, MSH6, CRIPT, VARS2, UROD, GPT2, TMC6, GP1BA, TBX22, AGRP, MCOLN1, C9orf72, RPL5, FTL, PRIMPOL, ATCAY, ENPP1, POLD1, ADAMTS18, LRRK2, SOX2, PRPF3, SEMA4A, UNC45B, TRIOBP, CHD8, EGR2, PTRH2, PAH, SLC6A8, GAS8, FREM1, TCF7L2, VCAN, AMBN, MS4A1, OCRL, DNAI2, VAX1, CYP7B1, SLC16A12, FRAS1, MYO18B, DNASE1L3, GATM, CLRN1, GCSH, ARHGEF10, LRIT3, RPS7, GCM2, RASA1, TNFRSF10B, MYOC, APOA1, GK, DLC1, MTTP, PTPRQ, ENO3, CD79A, MLLT10, POLG2, PAXIP1, C2, DAG1, FSHB, SNCB, ANTXR2, GABBR2, CITED2, MARS2, SPRED1, IRAK3, ZNF141, NR1I3, WHSC1L1, GNS, SPARC, C1QTNF5, SPEG, C2CD3, MIB1, ITPR1, GALNT3, SSR4, HCN1, EFTUD2, RPS10, GUSB, LPP, PGAM2, CYP21A2, LOXHD1, GSS, MLPH, CP, ZNF81, LYST, PRKRA, PAX1, IL2RA, NDUFS3, IGLL1, YAP1, RAB3GAP2, NOS1AP, UFSP2, PDYN, PLS3, MMP20, CEP290, NDUFAF2, FOXC1, CASP10, CTDP1, PCK1, ALG3, GLDC, SLC40A1, HES7, EFHC1, CENPE, AXIN1, WDR62, TINF2, TANGO2, L2HGDH, ABCB4, DHODH, LPL, RHBDF2, IMPG2, ACAT2, A2M, IL1B, AARS, HOXA11, VPS35, FAR1, XRCC4, ADAT3, CALCR, TRIP4, NANOS1, ADK, IFT122, PARK7, TAT, CUL4B, DPM1, GNAQ, HINT1, HNRNPK, LIPA, LAMC2, NPHP1, PCDH15, PDE4D, RPL21, HPD, COMT, TENM3, P2RY12, AP4S1, CCDC65, SYNJ1, FOXRED1, TFAP2B, SCARF2, COL4A3, RTN2, EHHADH, DNASE1, FCGR3A, SLC26A5, NLRP5, FH, KCNB1, AMT, AKR1D1, GHRL, FANCL, HLA-C, ATXN3, ATP7A, IVD, CSRP3, KRT14, DPM2, IQSEC2, SPTB, CNGA1, MC4R, NEFH, GCH1, ACTG2, NDUFS2, CCBE1, CTNNA1, PEX14, FAM58A, CYBA, IRX5, TRAIP, LRRC6, AURKC, NAA10, SBF2, DDC, CRYBB3, RAI1, DGUOK, KIF2A, SFTPA1, ST3GAL3, CYLD, THAP1, VPS37A, AKR1C2, TSR2, CDK4, TSG101, TAF4B, KIAA0319, TRPM6, FEZF1, DNAH8, ROBO3, NBN, FADD, MGP, PRF1, CACNA1D, IRS1, FOXN1, MT-TL1, PET100, ABHD12, SLC6A4, CD81, CYB5R3, COL9A1, SLC33A1, CSF2RB, TNNT3, ALDOB, CCDC78, SLC17A8, SHOC2, ALG6, SLC34A3, IL12B, MUTYH, ATP2A1, POC1B, AP1S2, C12orf57, IMPDH1, CYB5A, HGD, EPX, FZD4, POC1A, CA12, EXOSC8, RPS24, PTH, SEMA3D, POFUT1, ACTA2, KAT6B, DRC1, MEN1, GMPPB, GDNF, STAC3, KLK4, LMAN2L, PRICKLE1, GIPC3, TNFRSF11A, PRKCSH, GPHN, CRYBA2, KAT6A, NOBOX, UBE3B, FBXO31, BBS12, DLAT, PDGFRL, SLC2A2, DNAJB6, FLT4, UBR1, MYT1L, GRXCR2, MYO5B, NIN, ALDH3A2, KLHDC8B, CCDC8, DMGDH, DHTKD1, PCSK1, ATXN1, KARS, TSEN54, SOX18, SLC52A1, LHX4, OPTN, SCGB3A2, NIPA1, FREM2, GCLC, ATP13A2, CEP19, ARHGAP11A, ITGA6, BCR, DDX41, CD244, UQCC2, SETX, AIMP1, XPR1, TRAC, ZC4H2, AQP2, TEX15, NTRK1, IFNAR2, HYLS1, TSHR, MFSD2A, DRD3, IDS, F13B, IFT43, SMIM1, TUBA4A, CACNA1C, RFX5, MBD5, COL6A3, ADCK4, PMVK, GYS2, MT-TQ, PEX10, CHRNA2, PCSK9, COG4, DUOXA2, CHRNB1, FOXF1, ISPD, PMPCA, CD8A, EMC1, TNFRSF11B, SDHAF2, ODC1, ADGRE2, GPD1L, PDX1, SOD1, DDX59, F2, LAMA1, CEP120, ISCU, MED13L, STT3B, LCT, ADSL, MT-ND6, FAS, SERPINB6, FUT2, IKBKG, HEXB, NRXN1, NDUFA1, KRT25, VPS53, MTHFR, AK2, DNAAF3, SNCA, OTOGL, FAM175A, PCK2, CLDN1, MED25, VPS13B, PIGC, STK11, FGF17, OPLAH, FMR1, NDRG1, TTC19, MBL2, PNPLA2, CLDN14, NOP56, CACNA1B, ALAD, UGT1A4, BMPER, KCNQ2, ST14, KIAA1033, ABCB6, NF1, BMS1, ACTA1, GJA3, ELMOD3, GRIP1, MYOM1, NT5C2, SMARCA4, HTR1A, CBL, IL31RA, NDUFAF6, COQ4, FAM134B, ABCB11, ARMC4, NCSTN, IGF2, CLUAP1, HMX1, CCND1, SLC2A9, SFTPB, SYT14, ADCK3, SH3BP2, NSD1, HEXA, ITGA2, ADCY10, KHDC3L, PLOD3, KDM5C, NLGN4X, CRLF1, ACAD9, EBP, CACNB2, GMPPA, TALDO1, SLC6A5, GLIS3, TUBB1, ABCG8, DPYD, ZNF644, ST3GAL5, GUCY2C, CENPJ, CASQ1, MFRP, COX14, PANK2, ACVR1, TBX1, LAMP2, CDON, PGAP2, TPO, ATL1, CALM2, DDX3X, GNMT, TNPO3, KCNMA1, PRICKLE2, CNTN5, KIAA0586, CAPN10, SLC22A5, PAX2, ZNF469, NAT8L, RPL26, OTX2, SLC9A6, LEMD3, KATNB1, ITGB2, CCL2, CNNM2, KRT8, FHL1, FOXC2, GDF3, DDHD1, FBN1, PEX19, TBX21, USP9X, PPP2R5D, IHH, EIF2B2, DNAAF5, CA8, STXBP1, FGFR3, GSN, LARS2, STAT2, SOX10, GABRG2, CFC1, ALAS2, FAH, EMG1, THOC2, DSPP, PRKCD, SLC25A22, EPHB2, TLR4, SPECC1L, PTGER2, B9D1, KLC2, NR5A1, TNFAIP3, PRPF4, GFRA1, AP3B1, TAF6, KIF22, ERCC4, UPK3A, HFM1, TCF4, PEPD, KCNE2, FSHR, PGAP3, RBCK1, PDE10A, BAX, NPM1, KCTD1, SP110, FOXD3, PIP5K1C, PLOD2, KIF5A, PIGG, COL18A1, MAN1B1, VAMP1, EDNRB, COQ6, ACTN2, MTR, SFTPC, AGPAT2, PDLIM4, SLC25A12, CD46, POLH, ATXN7, DMP1, PRDM8, NDUFS8, HLCS, CD96, PAPSS2, KISS1, ICK, HMCN1, ACOX1, SLC52A3, SRD5A3, NDUFA11, GDF6, ERCC1, COL9A2, ALDOA, MLH1, IRF7, AGTR1, BFSP2, PHYH, GAN, DUOX2, DSG1, PGK1, DDR2, PTPRZ1, MARVELD2, OTOG, PRPS1, ASPH, MYL3, SLC24A1, FANCA, DACT1, HNF1B, ALG2, SCN8A, ZMYND15, ROM1, ERCC2, CCDC50, COL13A1, RFX6, RSPH1, LTBP3, CD40, OPA3, NDUFB9, CNTNAP1, SETD2, ATP6V0A2, TGDS, RAF1, OSBPL2, PRSS2, DVL3, CHD7, MEOX1, SETD5, TNFRSF13C, TMPRSS3, CCDC170, P3H2, DNAJC5, TNC, WRN, ETV6, PLA2G2A, CHKB, GLUL, AIPL1, PTGIS, DNAL1, HAGH, LHX3, BCKDHA, C1R, DHDDS, ABCB7, PRX, RAX2, RELN, CHRNA4, OFD1, TGFBR1, EP300, PSEN2, AGBL1, THRB, GCDH, MAX, TNFRSF4, UBB, POMT2, NOTCH3, BBS9, ABCA5, SCN3B, DTNBP1, DCHS1, CACNA2D4, JAM3, CTSD, CEP83, PLIN1, TNFRSF13B, TTR, WNT7A, TTC21B, STX11, SLC7A9, SFXN4, MRPS16, SUCLG1, MC2R, LRRC8A, IGFBP7, RAB33B, NUP155, HSD3B2, LIG3, KRT81, KRAS, ELANE, TSPAN12, SLC25A26, CFTR, TAF2, ZNF711, SLC25A4, KYNU, HMGA2, HOXD10, KANK2, RAG1, SLC10A2, NUP93, CALR3, PSAT1, UBQLN2, RNASEL, SYP, SLC12A5, SLC45A2, CHRM3, KAT5, GAA, LYRM4, EPOR, GLE1, CRBN, FZD6, CRYGC, COL25A1, ASL, CEP41, MEGF10, TRAPPC11, PLEKHG2, RAD54L, SPG11, KCNA2, BRF1, PALB2, STX1B, C19orf12, GRHL2, INSR, STAP1, HYAL1, KIAA0196, SCN9A, ARID1A, SERPINH1, PITX2, RNASET2, MSH2, C10orf2, CD3G, AHI1, GLA, COX4I2, STIL, TACO1, PLA2G6, LZTS1, POLR2F, EXOSC3, AMPD2, GABRA2, DNAJC3, FAT3, MIR96, NR0B2, MTHFD1, NHP2, AHCY, GCGR, MTRR, LYRM7, SLC22A18, NDUFA10, RNASEH2B, LRPAP1, HBB, CLMP, TCTN3, LMNA, DNAH14, BCKDHB, ACADS, MID1, NALCN, CIITA, CNGB1, CR2, YARS2, IKZF1, SORL1, SPG21, RBBP8, KIF11, RNASEH2C, TRMT10A, UBA1, NSDHL, KCNH2, MYH14, KDM6A, NECTIN4, PGR, PTPN14, SLC35D1, APOPT1, LRAT, RAB7A, JPH1, TRIM32, G6PC, WNK1, ASPM, SCGB1A1, GFI1B, PEX2, GPX1, HPSE2, LARGE1, EFNB1, LIPT1, MECOM, TECTA, CTRC, EVC, VLDLR, F7, RAX, IL1RN, SIK1, AXIN2, CDKN3, KCTD17, ANLN, PAX4, KIF21A, PITPNM3, ZMYND11, THRA, CCDC114, C5, CABP2, MTOR, ZFHX4, BLK, LEP, OPHN1, PIK3CD, ASS1, AIFM1, DSP, SMARCE1, AHDC1, DHH, SLC30A8, NTHL1, AP2S1, TNNT1, AAAS, SGSH, RSPH3, MKKS, STEAP3, HYDIN, SLC24A4, MAG, NKX3-2, SNAP25, GDF5, GNAS-AS1, XPNPEP3, ADAMTSL2, DEAF1, GAMT, NDUFS7, KCNC1, SEPT9, DISC2, TAB2, BANF1, NCF2, MGME1, HSPB3, CTNNB1, TCF12, EDC3, HMBS, LHFPL5, SMAD4, PIGY, DIS3L2, SRP72, IGHM, ITIH4, TNFSF11, C12orf65, KBTBD13, CLCN2, PPP2R1A, TUBB, TCTN1, RSPH4A, BBS7, RFXAP, RIPK4, INPPL1, AIP, SETD1A, RAD51, ALX3, BRIP1, GDAP1, TRMU, PI4KA, KRT86, GLI3, RBMX, CSNK1D, CTNS, MT-TH, ARL6, ACTB, GH1, DIABLO, SPINK5, CRYAB, HAVCR1, EIF4A3, TAC3, COX6A1, SMOC2, NLRP1, PER3, STAG3, KNG1, GPIHBP1, GIF, TGM5, GNAO1, IGHMBP2, CYBB, PYGL, HGSNAT, CHIC2, PIGL, LAMA2, AP4M1, THBS4, EGLN1, RARS, PLCB1, MT-CO2, D2HGDH, PLA2G5, COL6A1, CAMTA1, TPK1, ALG1, FTSJ1, CXCR4, FKTN, SEC23B, MMADHC, OPCML, SNX14, DMXL2, GPX4, RAB40AL, BDNF, SNRPB, RNF113A, CD36, SOX11, LRP6, HLA-DQB1, EXPH5, FMN2, TMEM43, NR0B1, PDSS2, NR3C1, IFT27, SDHB, APOA5, TMC1, TAP2, SIGMAR1, DICER1, ARMC5, POLR1D, APOB, TECPR2, CPT2, DYX1C1, MFN2, KIF1C, TM4SF20, FERMT3, MOCS2, MS4A2, CHCHD10, KLHL3, B3GLCT, AP4B1, TMEM237, MRAP2, PDSS1, PDE11A, TAF1, NLRC4, NPC1, HARS2, EMP2, MCCC2, TMEM231, ADGRG6, WNT10A, KCNA1, MUC7, WT1, AR, NDUFB11, PEX11B, NEK8, CDT1, SPRTN, GALNS, DNAI1, SPAST, GRHPR, COL8A2, CYC1, MVD, NR2E3, ZNF408, PXDN, SF3B4, SERPING1, MCM8, CBFB, ACAN, MLH3, HOXB1, SLC26A4, APOL4, NPPA, TMEM240, XPA, MPI, PDE8B, PURA, MC1R, IDH2, SLC19A3, DCXR, IL11RA, C4orf26, NDUFA12, LDHA, EDNRA, PRKAG2, MEF2C, NR2F2, POLG, HOXA13, CFAP53, NHS, MSX2, KIF5C, NLRP3, DLX4, DLEC1, CSPP1, JUP, PIKFYVE, OTOA, TGFB3, PRKG1, CACNA1A, MXRA5, CCDC28B, SLC22A12, WDPCP, FA2H, SLC6A17, RB1, BCAM, AICDA, ADD1, KCNK3, B4GALT7, ATF6, GCK, RNF170, STIM1, GRIN2B, ZFHX3, SHH, ITGA8, VRK1, MT-ATP6, ADAR, BHLHE41, CBS, CTCF, GHR, SLC17A9, MCPH1, OR2J3, AASS, CLN6, COL4A4, SLC52A2, BMP2, FOXE3, HSD11B2, AKAP9, DRD2, PLP1, VDR, FIBP, PARK2, ETFA, EGFR, CELSR1, IKBKB, SCNN1G, ARL6IP1, C8orf37, SKI, MAPK8IP1, UROS, VANGL2, PSTPIP1, PRKCG, CCM2, BVES, FARS2, NAGS, GJB3, AP5Z1, NME8, ESRRB, GUCY1A3, PPARGC1B, KIT, SCYL1, POLR3B, CLCF1, PEX1, BARD1, ZFP57, C21orf59, MTFMT, TPMT, MYBPC1, FBLN1, JAGN1, CYP19A1, PNKD, SARDH, MRPS22, TYMP, GNAL, KMT2D, DDX58, TACR3, ZFYVE26, TSC1, MAP3K1, KCNJ8, ERMARD, CLPB, TYROBP, BLM, ACTN4, AMPD1, PARN, PUS1, NDUFS6, POLR1C, AGA, SLC3A1, FTH1, PEX16, STRA6, TIA1, MSRB3, ADA, TIMP3, SMAD3, MTMR14, ALDH18A1, HSPG2, ESR1, HPGD, SERPINE1, SLC38A8, GATA2, ISCA2, DYRK1B, CRELD1, MMP2, CD3D, MAD1L1, IGBP1, PAFAH1B1, SDHC, ATRX, NEFL, CYP27A1, GFI1, CTSA, CYP11B2, RPS26, ATP6V1B2, AGT, IGKC, CTNNA3, PPP1R3A, KDM1A, MCM4, FOXI1, NPHP4, RPGRIP1L, SMN2, MANBA, MAP3K8, SLC12A3, PRG4, IL21R, TNNI3K, BCOR, SEPSECS, PPP1R15B, RPL15, TH, COL10A1, LHB, KCND3, ABCD1, ACSL4, SPAG1, HNRNPA1, MTO1, CD59, PRPH2, POMGNT2, SLITRK1, ECM1, CEP152, PRKACG, TSPEAR, ESPN, LDB3, FANCD2, TCOF1, NPHS1, MTNR1B, MOG, GBE1, UROC1, ICOS, TWIST2, QDPR, LMBRD1, GPC3, NDUFAF4, PLCE1, GGCX, ANOS1, MID2, NOTCH2, RBP3, ETFDH, SLURP1, SORT1, CAD, IL21, ERCC6, SHANK3, SCNN1A, MT-TK, ACTN1, USP9Y, KRT1, GALT, GFPT1, DCX, PSMB8, DLX5, APTX, POGZ, CNNM4, CAPN5, PNPLA8, IMPAD1, LRSAM1, PFKM, EVC2, FOXO1, HMMR, TMEM173, PTPN1, IFNG, FGD4, CREBBP, CLDN16, RPS6KA3, TFG, SASS6, TMLHE, INS, DNM1L, MOCS1, SCN2B, DLL3, KCNA5, FAM20C, CHMP2B, CD44, SETBP1, KIF14, AMHR2, C15orf41, WRAP53, EYS, SLC25A19, PITX3, LMX1B, TSFM, TMPRSS6, CNTN1, SNTA1, VHL, CCT5, COL4A1, SMARCAL1, FKBP14, TBX5, SOX17, TPP1, FN1, NGF, ADAMTS2, SMS, METTL23, KERA, MYH2, PHGDH, DCTN1, HCCS, MTAP, ZBTB42, TERT, TRPM7, ABCG2, H19, DGKE, F13A1, SLC9A3R1, ADH1B, ALDH5A1, PROS1, IDUA, SERPIND1, PLG, EHMT1, CPA6, PRDM12, CCNO, KLF6, CHEK2, DEC1, PUF60, PHKG2, SAG, RTN4IP1, JAK3, HADH, AFP, STAMBP, KITLG, TMEM127, ENTPD1, SOS1, BBS1, SCN5A, SLC1A4, MXI1, ZBTB24, GBA, CRB1, SERPINA6, SLC35A3, STRADA, LIMS2, TARS2, ARL13B, GUCA1A, TMEM165, CRB2, KRT10, MYH8, ASNS, OCLN, VPS45, GRIK2, RSPO1, PRLR, C8B, NARS2, TMEM199, DHFR, MFSD8, AVP, CHI3L1, RHAG, CWF19L1, FUCA1, MMP21, DISC1, DRD4, KLHL10, ZFYVE27, ANKS6, SLC17A3, GATA5, ACP5, TSHZ1, GLB1, SLC1A3, TGFBI, SLCO1B1, ACAT1, G6PD, COL5A1, ARHGEF9, LIPN, NR4A2, KISS1R, TK2, CD3E, DOCK2, MYLK2, CDKN2A, TENM4, KCNN4, NCF4, DHS6S1, VIM, S1PR2, TGM1, COX20, NDUFV2, SIX3, AFG3L2, TUBGCP4, CEP104, OAS1, AUH, POU1F1, ABCC2, ABHD5, PHOX2A, FBXO7, ERBB2, SNRNP200, CATSPER1, EXT1, MIR2861, MASP1, USH1C, VWF, NLRP12, ZNF592, TUBA1A, FLCN, IDH1, GP1BB, GAS1, LMNB1, SLC16A1, TPM3, DNAJB2, GARS, ARFGEF2, HELLS, CANT1, SPG20, AQP7, KRT18, CLCN7, MPL, KCNV2, ALG10, TJP2, ZIC3, COL4A2, TUBG1, ASCL1, LIM2, MAOA, NUP107, SLC7A7, ITK, ADGRV1, VPS13C, GLUD1, BPGM, MFAP5, PSENEN, SLC39A5, GALNT14, PAX8, VPS33B, QARS, EDN1, SLX4, BCPR, REN, VAPB, AHSG, WDR81, HNF4A, INF2, SGCA, SPTBN2, MECP2, PDCD1, ATPAF2, DOK7, DNAJC6, ANKLE2, TG, MAK, CD82, BBS10, FGF20, KRT71, CCND2, CYP4V2, EXT2, MRPL3, BRCA1, SRD5A2, LDLR, PIEZO1, TMEM126A, GABRA1, WDR45, TBC1D7, MT-TS1, GATA6, LITAF, ARSB, IFT80, ADAM10, ITPR3, SERPINA1, ACVRL1, PLN, PNPT1, ANGPTL3, ABCC11, CSF3R, NDUFAF1, NDE1, POLR3A, TUBGCP6, MAMLD1, BMPR1B, MYOZ2, PMP22, POMT1, PDHA1, HBA1, EYA4, ETFB, ANK2, PRKACA, CD19, GALC, TRPS1, POMC, BLVRA, TUSC3, PDGFB, ARHGAP26, FLG, SLC25A32, PLCG2, DRD5, CDKN1B, MYCN, FANCC, FGD1, DPAGT1, IRF6, PNP, DCC, ACO2, PGM3, CYP3A5, PIGA, ASPN, COL4A3BP, STX16, ALOX12B, ATR, MMAA, CA4, HFE2, HPS1, PORCN, CORO1A, CALM1, RDH5, FECH, APP, PITX1, RASGRP2, CD247, AQP5, SPINT2, PSPH, PIGW, CC2D2A, LBR, CUL3, TBXA2R, PTPN22, ATP6V1B1, LAMB1, KRIT1, POGLUT1, HNRNPDL, HDC, BBS5, SNRPE, SLC6A3, CDC6, WDR73, IL17RD, KIZ, B2M, GALK1, SPINK1, HSPB1, RANBP2, ESCO2, MCCC1, NYX, RSPO4, PHF8, AGK, TTC8, PRKCH, POR, C1QB, TGFBR2, CYP2C19, GORAB, P3H1, TGIF1, MAFB, SLC6A19, PTEN, MYOT, VANGL1, NF2, SCN4A, ALMS1, SUFU, PIK3R5, F9, SLC26A2, SLC39A8, PICALM, SHMT1, SKIV2L, SYNE1, THBD, PLAG1, CASK, HMGA1, THSD1, CRYGD, ALG11, SLC4A4, KIAA0556, ORC6, MCC, IL10, KCNJ1, FKRP, GPC6, ANO3, GJA8, IMPG1, HSPD1, WWOX, CHAT, MT-CYB, ABCD4, ADGRG1, GAD1, TNNT2, SH2D1A, FBXL4, HTR2A, ANKRD11, FXYD2, HIKESHI, PDE6B, PDE6C, ACVR1B, CHST6, SYT2, DPY19L2, OAT, RBM28, TAS2R16, KRT2, ATOH7, NLGN3, ABCA4, CHST14, CEP63, CD40LG, CRTAP, MATR3, COLQ, NUP62, FYCO1, KCNQ1, PNKP, DBH, AP4E1, FLVCR1, MMACHC, SERPINI1, TAPBP, PPIB, ICR1, PCYT1A, SIPA1L3, GYG1, KCNQ3, SLC5A1, RAD54B, SH3PXD2B, COX15, KRT17, SCN2A, UNC119, IRF1, SLC19A1, PEX13, PDE6G, NRL, PEX5, ECHS1, MUSK, XPC, GNB3, NEU1, CFP, CYP2U1, SGCG, PER2, SDHAF1, CSF1R, SLC2A1, RAB18, SLC9A1, TGM6, OPN1LW, SLC46A1, OSMR, ERCC6L2, SLC17A5, PIK3R2, FAT4, RFXANK, DCDC2, PDHX, DNAAF1, ABCA3, SPRY4, SLC9A3, SCRIB, ENG, FLT3, HLA-B, CPT1C, HMGB3, PCCA, BRWD3, KIF7, MT-TF, CTSC, EPHA2, PAK3, ANK3, CCDC88C, DRAM2, MEF2A, BCO1, POMK, TYR, DHCR24, TF, COX7B, RDH11, P2RX1, FGF10, EXOC8, MALT1, NOP10, RAB28, B3GALNT2, MITF, GJB6, TREX1, LRP4, NCF1, MYC, ALOX5AP, RCBTB1, F5, SEMA3E, PSEN1, JPH3, SNX10, ALPL, ANO5, PCCB, ZIC1, ASCC1, PNPO, ACY1, NDUFB3, KMT2A, LIPH, SLC25A1, SYCP3, PTRF, SPTAN1, ANKRD26, PODXL, MT-CO3, KCNE3, POLE, AKR1C4, CYP11B1, CDC73, ENAM, CACNB4, DLL4, CD79B, GNAI2, CLP1, KRT3, TUB, SOX9, RRM2B, SCP2, MED23, FOXL2, FGF9, GUCY2D, HOMER2, SLC30A10, PKLR, CABP4, DSC3, TTC37, CHST8, SACS, AMACR, SCARB2, SNRPN, CFL2, RPS29, ZHX2, GTPBP3, KCNE1, B9D2, HDAC8, KMT2C, EARS2, RIT1, ADAMTS10, RBM10, SC5D, EDN3, LCAT, TCIRG1, DYNC2H1, PPP1R17, CARTPT, XDH, CHIT1, FGF23, PIGM, BOLA3, FGF5, BRAF, SLC35A2, PIGR, SEPT12, GNPTG, SLC5A5, UBE2A, BLNK, ILDR1, RSPRY1, TMEM70, KRT5, SLC7A14, SMAD9, F12, SNIP1, CYP27B1, ARL2BP, EEF2, MICU1, MT-ND4L, NFKB2, LRP2, ANKH, KCNJ5, B4GALNT1, F10, SLC26A8, SLC4A11, SCN4B, KL, SLC5A7, KHK, FGFR1, NAGLU, PEX3, FAM111B, CNGA3, NKX2-1, ITPA, SLC16A2, ADRA2B, TCTN2, SMC1A, LMNB2, ATP2B2, SLC20A2, WDR19, AP1S3, SEC24D, PGAP1, CNGB3, KCNH1, MAF, KANSL1, TUBB4A, DYNC1H1, PHKA2, TLR2, SERPINF2, IFT140, OTC, SHOXY, SH2B3, COL6A2, CHRNE, C8A, NODAL, SLC12A6, ACTG1, NIPAL4, ASXL1, KCNJ10, RORC, ABCG5, TEX11, CYP1B1, DVL1, PCLO, PEX7, MUT, TFR2, RNF216, RBM20, SERAC1, NIPBL, ZSWIM6, IL6, DCN, COLEC11, PRRT2, HCFC1, TTPA, APC, KIF1BP, LGI1, ASPA, SMOC1, ADAM17, PTPRF, CCDC151, FCGR2A, PNLIP, RDH12, MCEE, GPD1, SYNE2, TRDN, HCN4, CRYGB, UCP1, C3AR1, CLIC2, TNFRSF1A, TSEN2, DNAH11, CRYGS, PRPF31, CST3, TPM1, BRCA2, GATAD2B, TBX19, WNK4, PEX6, PLCD1, TMPRSS15, CAV1, CTH, ADRB3, PMM2, GNAI3, MGAT2, CDK5, BEST1, LIPI, NLRP7, ZEB2, SLC24A5, NEB, FAN1, UCP3, CCDC115, PRPF8, FGF3, PPP2R1B, PDE6D, TGFB2, HSPB8, TTBK2, TMEM98, BBS2, LTBP4, JAG1, TEK, CRYM, IGSF3, PRPH, CDKAL1, GRID2, ASAH1, MRE11A, COL2A1, RBPJ, PRSS1, NUBPL, AMN, RIN2, MT-TT, SYNE4, RUNX1, STT3A, RB1CC1, CDKL5, OPN1SW, FCN3, SLC39A4, DSC2, AGPS, TACSTD2, KRT85, MYF6, POU3F4, SLC6A1, CHM, TEAD1, ATXN10, THPO, MOGS, NNT, CNTN2, MSMO1, HRG, HADHA, JAK2, DEPDC5, PLOD1, ABCA7, NFKBIL1, MMP13, CACNA1F, RPS17, CLEC7A, DSE, SLC35A1, SGO1, ERCC5, MT-ND3, SAMHD1, UQCRQ, STK10, NDUFA9, RBP4, CYP2D6, GP6, DKC1, ERCC8, USH2A, ALX4, ARID1B, ABCC8, HAX1, XK, GNB4, RPSA, DDHD2, EMD, HPRT1, PDE6H, FBXO38, SDHD, FRMD4A, GPR143, FAM111A, HLA-DRB1, SLITRK6, GAL, TXN2, BICD2, ACP2, BCS1L, RAPSN, MCM9, LTBP2, ROR2, PLK4, HIBCH, PHC1, SAMD9, DYRK1A, ITPR2, FUS, COQ2, SLC11A2, SALL2, MASTL, PRSS23, MT-ND1, DNA2, RTN4R, LAMC3, ISG15, DIP2B, EOGT, HNF1A, ACADSB, DDB2, AAGAB, TBCK, ABCD3, AMER1, CHRND, STAT3, GDF2, SLC13A5, CLN3, GRIN2A, FAM83H, FGF14, SMARCB1, IL17RA, DOCK8, SDHA, HOXC13, XYLT1, CETP, PNPLA6, TBX4, TBX18, GRM6, CEACAM16, IL13, HERC2, CLIC5, TYK2, CBX2, SLC1A1, THOC6, MSX1, TLL1, CACNA1S, CLASP1, UCHL1, IYD, NBEAL2, HNMT, SMC3, CISD2, NDUFAF5, CD27, HTRA1, ZP1, ITGB3, MT-CO1, TUFM, SLC36A2, SPTLC1, TSPAN7, SMARCAD1, USP8, HCRT, IGSF1, CAV3, FGFR4, DNAJC19, CNBP, CHRNG, PABPN1, ARG1, PIGT, MYD88, ITGB6, CKAP2L, TAP1, SEMA3A, RAB27A, RNASEH1, MYO5A, FOXG1, IFITM5, OCA2, PTHLH, ALB, ELAC2, TRAF3IP1, COX10, ING1, COL9A3, MAN2B1, CCDC103, MRAP, IBA57, EFEMP2, MASP2, MPV17, COQ7, DARS, HAL, SNAI2, PDGFRB, MTMR2, XYLT2, EIF2B4, UNG, CCDC174, HLA-DQA1, DNMT3B, WNT4, ANXA5, PTCH1, ACE, CTSK, APOA2, CIB2, GLI2, PAX6, RIPPLY2, MC3R, PLA2G7, TRAF3IP2, SCNN1B, IFT172, CPOX, EPHX1, MATN3, PRRX1, TARDBP, SOX5, ALDH2, ARHGEF6, DOCK6, CLN8, HOXB13, ITM2B, AGRN, MT-TD, RAB3GAP1, PDE3A, HTT, AVPR2, HBG1, CCDC22, HDAC6, EPHX2, AP1S1, NDUFA2, KRT6C, SLC19A2, ZBTB16, TRPA1, EYA1, NDST1, KLHL41, CYP24A1, LAMA3, ZMYND10, PTPRC, SPATA5, IFNGR1, NUP214, ARHGAP31, TUBA8, TCAP, LARS, CEBPE, RAB39B, KLHL7, IL7R, SMARCA2, DYSF, INSL3, SPR, ZIC2, NFIX, PRODH, ZNF513, PADI4, DAOA, CASR, CTLA4, DMD, AKAP10, CHRNA1, PYGM, CARD11, RAD51C, PYCR2, MIR204, EIF2AK4, TUBB2A, PRKDC, NDUFS1, VCP, CFI, CDHR1, MED12, SEC63, ATP1A3, TMEM138, GPD2, TOR1A, CRX, HLA-G, MAGEL2, HSF4, ATP7B, ATP8A2, B3GALT6, ACADM, NKX2-5, RS1, NPC2, DDOST, LPAR6, DSTYK, GJB1, NMNAT1, SUMF1, MT-ND4, DNAJC13, BIN1, WDR72, PCDH19, HPCA, HSD17B4, DHCR7, PRNP, TLE6, RPL35A, ATM, KCNJ18, NOS2, IER3IP1, MSR1, FXN, CDAN1, AKT3, EIF2B3, DIAPH1, FGFR2, UQCC3, UMOD, UBE3A, CPT1A, RPL11, SERPINB7, FAM20A, L1CAM, WAC, ELOVL5, RET, KCNQ1OT1, NTF3, KCNJ2, POU4F3, KCNQ4, HACE1, LRP1, RNF125, GLRA1, CFHR1, ADCY6, RFT1, GOSR2, PLCB4, PLEKHG4, PSMC3IP, ARSA, PKP2, CDH3, APOE, DCPS, HGF, SUOX, TMEM216, GLMN, NGLY1, NQO2, EPCAM, DNM2, GNAS, WNT5A, IGF2R, VSX1, COL3A1, MUC5B, C2orf71, RNASEH2A, SFTPA2, TP63, DOCK7, RLBP1, ETHE1, VMA21, MMP19, PTPRO, SCN10A, ZNF423, SPTA1, GLYCTK, LHCGR, PIEZO2, F8, NOG, DST, KIF1B, ITGA3, TBC1D24, BEAN1, ADRB2, MLYCD, MLC1, POMGNT1, PTCH2, KIF1A, ARSE, APOC2, PMS2, SBF1, ACTC1, WDR34, MKS1, ATXN8, TRMT5, ANO10, SUGCT, PHKB, IFIH1, BGLAP, GJB4, ERBB3, NDUFAF3, CEP135, TULP1, PNPLA1, IRF5, LONP1, P4HB, SQSTM1, CHAMP1, RNF6, ALDH7A1, FOXE1, HS6ST1, GNRHR, BUB1B, ABAT, TNNI3, KIAA2022, MYO1A, BTD, TNXB, CTSF, MYLK, PYCR1, HBA2, TUBB2B, SERPINC1, KLKB1, C4A, COMP, MUC1, SUCLA2, CYP4F22, TAZ, MAT1A, ATP2C1, TECR, VEGFC, MKRN3, FCGR2B, CLN5, NOL3, T, HIP1, TAS2R38, PPP2R2B, RAG2, TRAPPC9, DUSP6, POLA1, DNMT3A, FAM177A1, SLC12A1, GATA1, TTLL5, TAPT1, LMOD3, FANCE, AGL, MT-TE, PHB, EFEMP1, KRT4, TMCO1, SLC4A1, TPM2, ZFPM2, IARS2, KRT83, CFB, PQBP1, GPR179, CASQ2, STAR, MYO7A, AKT1, MLF1, TPI1, ZNF687, WDR35, LRPPRC, AURKA, NONO, LARP7, VPS13A, EZH2, TWIST1, LOXL1, CDH1, DSG4, DNAH1, EDAR, HSPA9, GNE, CUBN, DPP6, HAMP, NOD2, CTC1, MTM1, GJC2, MYO15A, CHST3, HABP2, SPTLC2, TRIP11, TMEM5, FRZB, PINK1, SEPN1, UNC80, PROKR2, PIGN, POU6F2, SEC23A, PTPN11, PEX12, PTPN12, SPG7, DMPK, VPS11, DNAL4, NDUFS4, DBT, IQCB1, TMC8, LIPE, DNAAF2, CIDEC, COCH, COL5A2, WISP3, EDARADD, PHF11, B4GALT1, ZMPSTE24, CLCNKB, PDP1, CALR, PHKA1, BRAT1, CDK5RAP2, SLC6A20, DGAT1, UVSSA, KRT12, FBP1, GTF2H5, ADCY1, EPM2A, PRDM5, HADHB, WNT10B, MMAB, AUTS2, COQ9, SELP, NHLRC1, FKBP10, GRN, MERTK, PIK3CA, COL1A2, GBA2, DNM1, CFHR5, GFAP, GPSM2, PDK3, IRF3, BMP4, ITGA2B, PROP1, G6PC3, FGA, IL4R, SH3TC2, ELP4, ZBTB20, CCL11, MYO1E, PRSS56, GATA4, BAG3, PROK2, TRNT1, DES, CYCS, MPO, SLC30A2, RUBCN, KCNT1, TERC, ARHGDIA, KCNMB1, MYH3, NRAS, HSD11B1, CHD2, CLDN19, IL2RG, CUL7, RYR2, DFNA5, SBDS, FIG4, ANGPTL4, RPS28, SCN1B, ECEL1, SCN11A, SGCD, CLCNKA, GABRD, MIR17HG, NME1, SP7, PRDM16, ALS2, DFNB59, RP9, NEXN, ERCC3, ATXN8OS, FRMD7, ANO6, FAM126A, GPI, SIX6, ATN1, AFF4, PAX9, MVK, RASSF1, CARD9, PAX7, BCL11A, COL4A6, LRP5, LIPC, KRT13, RMRP, CDH23, HARS, BAP1, GDF1, PKHD1, SDC3, STS, UGT1A1, VIPAS39, CPN1, EPG5, UPF3B, RARB, SLC26A3, POMP, SOS2, SMAD6, DPH1, HRAS, BMP1, FOLR1, IGF1, TREM2, C1QC, DARS2, FGB, GNPTAB, JPH2, SLC29A3, NEUROD1, PTH1R, TMIE, SART3, UBE2T, AARS2, HBG2, SPATA16, HMGCL, NDN, FOXP3, OSTM1, LIG4, TXNL4A, NPHP3, FOXP1, CASC5, TP53, YARS, EPS8, CFAP57, SI, TUBB8, ELN, SH3GL1, CDSN, MN1, AMPD3, BSND, SARS2, HK1, ERBB4, LZTR1, KIF4A, ANTXR1, MYH6, REEP2, AIRE, WHRN, NBAS, DLG3, SLC25A15, TTI2, PTS, PAX3, ATP2A2, RMND1, B3GAT3, TGFB1, PGM1, SOST, PRPF6, MPDZ, COL11A1, RRAS2, IGF1R, EIF2AK3, DCAF17, APPL1, TBCE, SCO1, NOS3, GRHL3, CERS3, C5orf42, CYP2A6, DNMT1, GM2A, WDR60, NUDT15, SLC5A2, ADAMTSL4, FUT1, DCLRE1C, OTOF, FAM65B, TMEM67, UBIAD1, ADAMTS17, NECTIN1, ALOXE3, PROM1, ZBTB18, SLC25A20, CFD, SURF1, ROGDI, RP1, XRCC3, SATB2, CAST, SLC34A1, PHEX, FGG, PKD1, MYH7, DCAF8, PLAGL1, SALL1, RAD21, ALDH6A1, CDK6, CENPF, ANK1, STRC, KCNJ6, CHRDL1, TRAPPC2, FLRT3, DNAH5, RECQL4, TSPYL1, MCM6, NADK2, PLAU, GJA5, MTPAP, MYO3A, DPYS, SALL4, ITCH, MAPRE2, ARX, LAMB2, MMP1, FANCM, PLEKHG5, APOL2, SLC25A38, CRADD, SIL1, MBTPS2, ABCA1, COX8A, CC2D1A, LZTFL1, TBK1, CYP26C1, GATA3, SLFN14, CLPP, ZDHHC15, HMGCS2, PCNT, NECAP1, AFF2, TBX15, PLEC, C1QA, HR, SLC2A10, CLCN5, CRYAA, NEK2, SMN1, PTF1A, TNF, AK1, SNAP29, SOX3, EDA, CEL, ATP1A2, GNAT1, GFM1, NFKBIA, PRSS12, PROC, ORAI1, ERLIN2, SNCAIP, MET, PDZD7, SLC25A46, HSD17B3, IRF8, KRT16, EEF1A2, MYBPC3, RUNX2, CLCN1, DYM, SPRY2, WDR11, MEGF8, GSC, GP9, SLC25A13, SLC22A4, WAS, ACD, PAM16, TYRP1, COL11A2, COL7A1, LCK, COA6, ITGB4, SLCO1B3, PTPRJ, SMPD1, RPS14, HESX1, RD3, POT1, PTDSS1, FOXP2, DSG2, PPM1D, C3, SDCCAG8, ZNF335, FLNA, TBC1D20, MAB21L2, GNA11, GATAD1, SLC34A2, CEP164, RDX, CHMP1A, PPOX, TUBB3, PTCHD1, HSD17B10, FUZ, KLF1, MNX1, ACKR1, LRTOMT, ATP5A1, ALDH1A3, PC, TRPM4, ADAMTS13, SCN1A, ORC4, KRT74, CTPS1, RHO, SYNGAP1, PIGO, TTN, TSHB, RPS19, ATIC, TRPV3, TRPV4, CFH, KCNJ13, ABCC6, VKORC1, LIAS, IGF2BP2, GCNT2, BAAT, STUB1, ATP8B1, EIF2B1, WNT3, BCL10, PHF6, AHNAK, ERF, TBP, MYH9, PDGFRA, MLLT11, NEK1, LRBA, FGF16, HAO1, PPT1, ATP6AP2, MYPN, ABCC9, LAMTOR2, TRH, COL4A5, PIGV, MT-ND2, GRM1, PSAP, UPB1, MT-TS2, FASTKD2, IRS2, RARS2, ADNP, BSCL2, ZAP70, NPR2, ALDH4A1, MPLKIP, CASP8, TRIM37, CYP17A1, FLNB, ALG13, SLC37A4, ECE1, SRCAP, GHSR, LMAN1, CARS2, MPC1, RXFP2, POLR1A, BBIP1, GDI1, COL1A1, FMO3, ORC1, AMELX, NT5E, BCAP31, MAPT, BHLHA9, H6PD, UBN1, TBX3, PPARG, NAT2, CERS1, DAO, MCIDAS, PRKAR1A, SZT2, OPN1MW, TCN2, SGCE, BTK, SOBP, OVOL2, IL10RA, RP1L1, COX6B1, SGCB, SLCO2A1, NEUROG3, ATP2B3, TFRC, BLOC1S6, NDUFV1, CECR1, LMF1, WFS1, DLD, UMPS, CPS1, FCGR2C, SLC2A4, GRIA3, TIMM8A, CYP2R1, CSTA, HEPACAM, FBLN5, LAMA4, RBM8A, RPGR, ABCA12, SYN2, CAPN3, PACS1, ATP1B1, CA5A, TTC7A, LINS1, LPIN1, RYR1, LTC4S, NPHS2, MORC2, AKT2, AGXT, MARS, EIF4G1, COPA, DDX11, IKBKAP, MRPL44, GNPAT, COA5, NSUN2, STAT1, ELOVL4, WNT1, MPZ, SLC35C1, RTTN, RPIA, CEBPA, NR3C2, MYO6, NDP, SYN1, EIF2B5, GLRX5, REEP1, PCBD1, MT-ND5, ACADVL, TNNI2, FERMT1, ADCY5, NFU1, MIR184, ALOX5, CARD14, BMPR2, RNU4ATAC, FLNC, KCNJ11, CACNA1G, GJA1, CFHR3, CRYBA1, FTCD, INPP5E, IL10RB, COG6, RGS5, IL12RB1, COL17A1, KPTN, BLMH, P2RX2, LAMB3, MTUS1, TRIM2, KRT9, SIX1, FBN2, PEX26, GALE, SHOX, IL36RN, TRPC3, UQCRC2, GYS1, FASLG, PHOX2B, MED17, MAP2K2, CYP2C9, COASY, CHSY1, ATL3, RP2, CDKN1C, USH1G, DLX3, OGDH, RPE65, HOXD13, LRIG2, TFAP2A, KCNC3, ADH1C, USB1, LYZ, IL1RAPL1, NR2F1, SAR1B, SCO2, LOR, IFNGR2, BMPR1A, MYH11, INVS, RAB23, ACACA, GJB2, BBS4, RETN, RNF168, ATXN2, NT5C3A, ZAK, APRT, IL17RC, AMH, ING3, SLC39A13, C10orf11, SMPX, NFKB1, KCTD7, PCNA, BICC1, GRXCR1, LMBR1, NOTCH1, CYGB, SELE, CEP57, DIAPH3, FLVCR2, TRIM28, SIM1, KDR, APBB2, LIFR, HOXA2, MEFV, RTEL1, OPA1, TBX6, HFE, TBXAS1, DOLK, ITGA7, NAGA, MPDU1, GNRH1, TPRN, ARNT2, B4GAT1, PIK3R1, HSD3B7, UQCRB, DTNA, GLUD2, CSTB, FTO