SKELETAL

Associated diseases: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, HYPER-IGE RECURRENT INFECTION SYNDROME, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, ACHONDROPLASIA, 46XY SEX REVERSAL 9, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, RETINITIS PIGMENTOSA 64, CONE-ROD DYSTROPHY 16, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, DYSAUTONOMIA, FAMILIAL, SICKLE CELL ANEMIA, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 10, LARON DWARFISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), RUIJS-AALFS SYNDROME, CATEL-MANZKE SYNDROME, CARPENTER SYNDROME 2, ARTHROGRYPOSIS, DISTAL, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, SECKEL SYNDROME 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, EHLERS-DANLOS SYNDROME, TYPE 3, CK SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, FLOATING-HARBOR SYNDROME, PRADER-WILLI SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, ACROMELIC FRONTONASAL DYSOSTOSIS, HOLT-ORAM SYNDROME, NEUROFIBROMATOSIS, TYPE 1, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, KAHRIZI SYNDROME, LUSCAN-LUMISH SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, GHOSAL HEMATODIAPHYSEAL SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, ?MECKEL SYNDROME 12, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, TRIGONOCEPHALY 1, MUENKE SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, ABLEPHARON-MACROSTOMIA SYNDROME, ?AL-GAZALI-BAKALINOVA SYNDROME, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, 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, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, JOUBERT SYNDROME 23, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, 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, CAUDAL REGRESSION SYNDROME, CURRARINO SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, 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, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, FARBER LIPOGRANULOMATOSIS, NEMALINE MYOPATHY 5, AMISH TYPE, KABUKI SYNDROME 2, PROPIONICACIDEMIA, EXOSTOSES, MULTIPLE, TYPE 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, CHOREOACANTHOCYTOSIS, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, PERIODIC FEVER, FAMILIAL, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, CINCA SYNDROME, SOTOS SYNDROME 1, SPINOCEREBELLAR ATAXIA 27, OCCIPITAL HORN SYNDROME, HEMOPHILIA A, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP O, MARTSOLF SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, OROFACIODIGITAL SYNDROME V, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, FANCONI ANEMIA, COMPLEMENTATION GROUP C, SCLEROSTEOSIS 1, JOUBERT SYNDROME 10, DIHYDROPYRIMIDINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 5, ?INFANTILE LIVER FAILURE SYNDROME 1, MUSCULAR DYSTROPHY, CONGENITAL, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, CAMURATI-ENGELMANN DISEASE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, DOOR SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ACROCAPITOFEMORAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, [URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, MYOPATHY, MYOFIBRILLAR, 3, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, GNATHODIAPHYSEAL DYSPLASIA, LESCH-NYHAN SYNDROME, 3MC SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, FACTOR XIIIA DEFICIENCY, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 1, SJOGREN-LARSSON SYNDROME, MARSHALL SYNDROME, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PSEUDOACHONDROPLASIA, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, WILSON DISEASE, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OROFACIAL CLEFT 7, PARTINGTON SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, METATROPIC DYSPLASIA, SC PHOCOMELIA SYNDROME, PARIETAL FORAMINA 2, BETA-UREIDOPROPIONASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, FUCOSIDOSIS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, TRIGONOCEPHALY 2, HARTSFIELD SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, GREENBERG SKELETAL DYSPLASIA, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, CENTRONUCLEAR MYOPATHY 5, YUNIS-VARON SYNDROME, HAND-FOOT-UTERUS SYNDROME, ADAMS-OLIVER SYNDROME 6, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?DIAMOND-BLACKFAN ANEMIA 11, GERODERMA OSTEODYSPLASTICUM, FACTOR VII DEFICIENCY, MICROPHTHALMIA WITH LIMB ANOMALIES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PAPILLORENAL SYNDROME, MENTAL RETARDATION, X-LINKED 45, COLE-CARPENTER SYNDROME 1, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, OLMSTED SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ?GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT, MEIER-GORLIN SYNDROME 4, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, OPITZ-KAVEGGIA SYNDROME, BARDET-BIEDL SYNDROME 5, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, 46,XX SEX REVERSAL, TYPE 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MYHRE SYNDROME, LAURIN-SANDROW SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, AICARDI-GOUTIERES SYNDROME 5, CONGENITAL DISORDER OF DEGLYCOSYLATION, SMITH-MCCORT DYSPLASIA, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, LADD SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, LEUKODYSTROPHY, HYPOMYELINATING, 3, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE, MULTIPLE SULFATASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, GALLOWAY-MOWAT SYNDROME, PRIMROSE SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, BARDET-BIEDL SYNDROME 6, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), LYMPHEDEMA, HEREDITARY, III, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE VIII, MENTAL RETARDATION, X-LINKED 99, JOUBERT SYNDROME 16, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, DIAPHANOSPONDYLODYSOSTOSIS, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, ?MECKEL SYNDROME 9, ADAMS-OLIVER SYNDROME 3, JOUBERT SYNDROME 2, MUCOPOLYSACCHARIDOSIS II, ROTHMUND-THOMSON SYNDROME, CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, OSTEOGENESIS IMPERFECTA, TYPE XI, ACHONDROGENESIS, TYPE IA, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS 13, BARTTER SYNDROME, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?MYOSCLEROSIS, CONGENITAL, 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, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, A, CRANIOECTODERMAL DYSPLASIA 3, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, POIKILODERMA WITH NEUTROPENIA, FANCONI ANEMIA, COMPLEMENTATION GROUP L, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, 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, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HAMAMY SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BARTTER SYNDROME, TYPE 2, DIAMOND-BLACKFAN ANEMIA 4, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, SECKEL SYNDROME 2, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, DANON DISEASE, VAN BUCHEM DISEASE, CORNELIA DE LANGE SYNDROME 5, HPRT-RELATED GOUT, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, ?STEEL SYNDROME, FILIPPI SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, GAUCHER DISEASE, TYPE IIIC, ACHEIROPODY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), MICROPHTHALMIA, SYNDROMIC 2, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, LARSEN SYNDROME, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, CRANIOFRONTONASAL DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FRANK-TER HAAR SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, BORJESON-FORSSMAN-LEHMANN SYNDROME, CARPENTER SYNDROME, HAY-WELLS SYNDROME, ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, IMMUNODEFICIENCY 12, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, NANCE-HORAN SYNDROME, ?WEBB-DATTANI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?FANCONI RENOTUBULAR SYNDROME 3, WIEDEMANN-STEINER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, EIKEN SYNDROME, SCHNECKENBECKEN DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, CHERUBISM, ASPARTYLGLUCOSAMINURIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, DESBUQUOIS DYSPLASIA 1, DYSTONIA 24, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, MARSHALL-SMITH SYNDROME, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, OVARIAN DYSGENESIS 4, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, ?CRANIOECTODERMAL DYSPLASIA 4, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCONI ANEMIA, COMPLEMENTATION GROUP P, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, BLAU SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 8, CEREBROOCULOFACIOSKELETAL SYNDROME 4, MEIER-GORLIN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, ANAUXETIC DYSPLASIA, PYCNODYSOSTOSIS, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BRACHYDACTYLY, TYPE C, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, CEREBROTENDINOUS XANTHOMATOSIS, PRECOCIOUS PUBERTY, CENTRAL, 2, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, OROFACIODIGITAL SYNDROME IV, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, ?MULTIPLE SYNOSTOSES SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, MULIBREY NANISM, BRACHYDACTYLY, TYPE A1, C, CRANIOSYNOSTOSIS, TYPE 2, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, MULTIPLE SYNOSTOSES SYNDROME 2, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, TARSAL-CARPAL COALITION SYNDROME, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BEHR SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, METACARPAL 4-5 FUSION, SYMPHALANGISM, PROXIMAL, 1A, WHITE-SUTTON SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, CHAR SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, PEROXISOME BIOGENESIS DISORDER 3B, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, BRITTLE CORNEA SYNDROME 2, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ?DIAMOND-BLACKFAN ANEMIA 12, OVARIAN DYSGENESIS 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, OSTEOGENESIS IMPERFECTA, TYPE VII, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ELLIS-VAN CREVELD SYNDROME, GLYCOGEN STORAGE DISEASE VII, NEU-LAXOVA SYNDROME 1, MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MENTAL RETARDATION, X-LINKED 19, MELEDA DISEASE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, GRACILE BONE DYSPLASIA, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, ASPARAGINE SYNTHETASE DEFICIENCY, ESCOBAR SYNDROME, ADAMS-OLIVER SYNDROME 4, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, RETT SYNDROME, CONGENITAL VARIANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44, BOWEN-CONRADI SYNDROME, SENIOR-LOKEN SYNDROME 9, HYPEREKPLEXIA HEREDITARY, CAPOS SYNDROME, LEGG-CALVE-PERTHES DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CEROID LIPOFUSCINOSIS, NEURONAL, 10, WARBURG MICRO SYNDROME 3, BASAL CELL NEVUS SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, GLASS SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 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, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FANCONI ANEMIA, COMPLEMENTATION GROUP E, WARBURG MICRO SYNDROME 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, ?BARDET-BIEDL SYNDROME 19, EPISODIC ATAXIA/MYOKYMIA SYNDROME, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), IMMUNODEFICIENCY 43, GLUTAMINE DEFICIENCY, CONGENITAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, ?POLYDACTYLY, POSTAXIAL, TYPE A6, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, BARDET-BIEDL SYNDROME 7, MECKEL SYNDROME 10, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, TEMPLE-BARAITSER SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, PONTOCEREBELLAR HYPOPLASIA TYPE 4, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, STIFF SKIN SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AL-RAQAD SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, ?DYSTONIA, JUVENILE-ONSET, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, ?CHARGE SYNDROME, CHARGE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, NASU-HAKOLA DISEASE, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), [BONE MINERAL DENSITY VARIABILITY 1], SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, ?SECKEL SYNDROME 8, PEROXISOME BIOGENESIS DISORDER 6B, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?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, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, HYPOPHOSPHATEMIC RICKETS, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP T, APERT SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, RETINITIS PIGMENTOSA 71, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ALSTROM SYNDROME, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ?OROFACIODIGITAL SYNDROME XIV, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, INTERSTITIAL LUNG AND LIVER DISEASE, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, ZIMMERMANN-LABAND SYNDROME 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AURICULOCONDYLAR SYNDROME 3, PETERS-PLUS SYNDROME, CALCIFICATION OF JOINTS AND ARTERIES, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, LEBER OPTIC ATROPHY AND DYSTONIA, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, BARDET-BIEDL SYNDROME 8, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, MUCKLE-WELLS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, PITT-HOPKINS-LIKE SYNDROME 2, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, SYNDACTYLY, TYPE V, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?MICROHYDRANENCEPHALY, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, CAFFEY DISEASE, WIEACKER-WOLFF SYNDROME, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, STICKLER SYNDROME, TYPE II, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, SED CONGENITA, JAWAD SYNDROME, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, LATHOSTEROLOSIS, SYNDACTYLY, TYPE IV, BARDET-BIEDL SYNDROME 13, VOHWINKEL SYNDROME, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, CRANIOECTODERMAL DYSPLASIA 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, MYOPATHY, MYOFIBRILLAR, 6, KENNY-CAFFEY SYNDROME, TYPE 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MECKEL SYNDROME 5, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, GM1-GANGLIOSIDOSIS, TYPE III, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, KABUKI SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, ATELOSTEOGENESIS, TYPE III, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VERHEIJ SYNDROME, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, OPITZ GBBB SYNDROME, TYPE II, DYSKERATOSIS CONGENITA, X-LINKED, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MANDIBULOACRAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, WARSAW BREAKAGE SYNDROME, VAN BUCHEM DISEASE, TYPE 2, CRANIOSYNOSTOSIS 4, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, KBG SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPLIT-HAND/FOOT MALFORMATION 6, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, CRANIOSYNOSTOSIS 3, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JOUBERT SYNDROME 15, FRONTONASAL DYSPLASIA 1, HEIMLER SYNDROME 2, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, JOUBERT SYNDROME 24, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, KLEEFSTRA SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL1], TIMOTHY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, WARBURG MICRO SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), BRACHYDACTYLY, TYPE A2, BRACHYDACTYLY, TYPE E, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, COWDEN SYNDROME 7, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, GLYCOGEN STORAGE DISEASE IC, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, MEIER-GORLIN SYNDROME 2, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ADAMS-OLIVER SYNDROME 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, MYASTHENIC SYNDROME, CONGENITAL, 16, MUCOLIPIDOSIS III ALPHA/BETA, VAN MALDERGEM SYNDROME 2, SMITH-MAGENIS SYNDROME, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, METACHONDROMATOSIS, SED, MAROTEAUX TYPE, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, TARP SYNDROME, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, OSTEOGENESIS IMPERFECTA, TYPE XVII, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ROIFMAN SYNDROME, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, COLE DISEASE, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, PERRAULT SYNDROME 1, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, SILVER-RUSSELL SYNDROME, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, COENZYME Q10 DEFICIENCY, PRIMARY, 4, MUCOPOLYSACCHARIDOSIS IS, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, SALLA DISEASE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, ?MICROPHTHALMIA, SYNDROMIC 13, HYPOPHOSPHATASIA, INFANTILE, DUANE-RADIAL RAY SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, HEMOCHROMATOSIS, TYPE 2A, CENANI-LENZ SYNDACTYLY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ISCHIOCOXOPODOPATELLAR SYNDROME, OMODYSPLASIA 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, C SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, VELOCARDIOFACIAL SYNDROME, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, ACHONDROGENESIS IB, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), VAN DEN ENDE-GUPTA SYNDROME, GAUCHER DISEASE, TYPE I, ?OSTEOGENESIS IMPERFECTA, TYPE XII, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, EVEN-PLUS SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, 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, ALAGILLE SYNDROME, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, SPONDYLOPERIPHERAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, ESTROGEN RESISTANCE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ALAZAMI SYNDROME, ANDERSEN SYNDROME, IMMUNODEFICIENCY 23, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, MICROPHTHALMIA, SYNDROMIC 14, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOCHONDROPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ?PRUNE BELLY SYNDROME, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, CEREBELLOFACIODENTAL SYNDROME, HYALINE FIBROMATOSIS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, GITELMAN SYNDROME, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, KLIPPEL-FEIL SYNDROME 2, FUHRMANN SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION, HEMOCHROMATOSIS, TYPE 3, CHONDROCALCINOSIS 2, BARDET-BIEDL SYNDROME 10, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39, BRUCK SYNDROME 1, COCKAYNE SYNDROME, TYPE B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, TRICHODONTOOSSEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, KAUFMAN OCULOCEREBROFACIAL SYNDROME, MENTAL RETARDATION, X-LINKED 93, ?MENTAL RETARDATION, X-LINKED 91, 3MC SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, DIGEORGE SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, COLD-INDUCED SWEATING SYNDROME 2, LEPRECHAUNISM, ?HYDROLETHALUS SYNDROME 2, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AURICULOCONDYLAR SYNDROME 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, LIMB-MAMMARY SYNDROME, MECKEL SYNDROME 6, OHDO SYNDROME, X-LINKED, FIBROCHONDROGENESIS 1, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, BRACHYDACTYLY, TYPE A1, D, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, OSTEOGENESIS IMPERFECTA, TYPE I, CRANIOECTODERMAL DYSPLASIA 1, CORNELIA DE LANGE SYNDROME 3, 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, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, PROUD SYNDROME, CHILBLAIN LUPUS, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, BRACHYDACTYLY, TYPE B2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, PHYTANIC ACID STORAGE DISEASE, BARDET-BIEDL SYNDROME 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?MECKEL SYNDROME 8, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, C1R/C1S DEFICIENCY, COMBINED, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, PALLISTER-HALL SYNDROME, MOHR-TRANEBJAERG SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, 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}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, STAR SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, BRANCHIOOCULOFACIAL SYNDROME, SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BARAITSER-WINTER SYNDROME 2, DYSTONIA 6, TORSION, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, PSORIASIS 2, COENZYME Q10 DEFICIENCY, PRIMARY, 7, JOUBERT SYNDROME 17, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, STROMME SYNDROME, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BARDET-BIEDL SYNDROME 16, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, DESMOSTEROLOSIS, GM1-GANGLIOSIDOSIS, TYPE II, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, ALKAPTONURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE V, KEUTEL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, COUSIN SYNDROME, GALACTOSIALIDOSIS, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, ?BARDET-BIEDL SYNDROME 18, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CHONDROSARCOMA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XIII, SPASTIC PARAPLEGIA 2, X-LINKED, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, PERRAULT SYNDROME 5, CHILD SYNDROME, JOUBERT SYNDROME 7, PCWH SYNDROME, BARDET-BIEDL SYNDROME 4, EHLERS-DANLOS SYNDROME, TYPE IV, SCHAAF-YANG SYNDROME, COLD-INDUCED SWEATING SYNDROME 1, PARIETAL FORAMINA 1, RITSCHER-SCHINZEL SYNDROME 1, WILSON-TURNER SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, HEMOCHROMATOSIS, TYPE 4, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, JOUBERT SYNDROME 18, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, DIAMOND-BLACKFAN ANEMIA 7, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, ARTHROGRYPOSIS, DISTAL, TYPE 5, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, COLE-CARPENTER SYNDROME 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, MOLYBDENUM COFACTOR DEFICIENCY A, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, OGDEN SYNDROME, BRUCK SYNDROME 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, HAIM-MUNK SYNDROME, NATIVE AMERICAN MYOPATHY, ADAMS-OLIVER SYNDROME 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, HELSMOORTEL-VAN DER AA SYNDROME, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, SECKEL SYNDROME 1, LANGER MESOMELIC DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, ?MARDEN-WALKER SYNDROME, FEINGOLD SYNDROME 2, PEUTZ-JEGHERS SYNDROME, FANCONI-BICKEL SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY, ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, KEPPEN-LUBINSKY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NOONAN SYNDROME 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?JOUBERT SYNDROME 22, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LIANG DISTAL MYOPATHY, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, ?HIP DYSPLASIA, BEUKES TYPE, WAARDENBURG SYNDROME, TYPE 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BARDET-BIEDL SYNDROME 17, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ?SECKEL SYNDROME 4, EXUDATIVE VITREORETINOPATHY 1, JOUBERT SYNDROME 13, TYROSINEMIA, TYPE I, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MYOPATHY, DISTAL, TATEYAMA TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, MUSCULAR DYSTROPHY, RIGID SPINE, 1, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ROUSSY-LEVY SYNDROME, SILVER SPASTIC PARAPLEGIA SYNDROME, CARTILAGE-HAIR HYPOPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XV, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), DYGGVE-MELCHIOR-CLAUSEN DISEASE, BRACHYOLMIA TYPE 3, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, COCKAYNE SYNDROME, TYPE A, ATELOSTEOGENESIS, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MECKEL SYNDROME 2, VACTERL ASSOCIATION, X-LINKED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ARTERIAL TORTUOSITY SYNDROME, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, SCALP-EAR-NIPPLE SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MEIER-GORLIN SYNDROME 5, EHLERS-DANLOS SYNDROME, TYPE VI, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, RENAL CYSTS AND DIABETES SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 5D, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H, MECKEL SYNDROME 11, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, PANCREATIC AND CEREBELLAR AGENESIS, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, OROFACIODIGITAL SYNDROME VI, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, OPSISMODYSPLASIA, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SHWACHMAN-DIAMOND SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION, CLEFT PALATE, ISOLATED, MEVALONIC ACIDURIA, DUCHENNE MUSCULAR DYSTROPHY, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, MEIER-GORLIN SYNDROME 3, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ?MUCOPOLYSACCHARIDOSIS TYPE IX, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, AVASCULAR NECROSIS OF THE FEMORAL HEAD, MECKEL SYNDROME 3, RENAL TUBULAR ACIDOSIS, DISTAL, AR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, DESBUQUOIS DYSPLASIA 2, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, CORNELIA DE LANGE SYNDROME 2, ROBINOW SYNDROME, CHOPS SYNDROME, ?SPONDYLOCOSTAL DYSOSTOSIS 6, POLYCYSTIC LIVER DISEASE, SIALIC ACID STORAGE DISORDER, INFANTILE, MUCOPOLYSACCHARIDOSIS, MPS-III-A, GELEOPHYSIC DYSPLASIA 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), COMPLEMENT FACTOR I DEFICIENCY, ALLAN-HERNDON-DUDLEY SYNDROME, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, HEART-HAND SYNDROME, SLOVENIAN TYPE, JOUBERT SYNDROME 20, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, CPT II DEFICIENCY, LETHAL NEONATAL, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, LOEYS-DIETZ SYNDROME 4, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, GLYCOGEN STORAGE DISEASE IV, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, TEMTAMY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, POPLITEAL PTERYGIUM SYNDROME 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, EXUDATIVE VITREORETINOPATHY 4, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), DENT DISEASE, DEJERINE-SOTTAS DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, PARASTREMMATIC DWARFISM, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, JOHANSON-BLIZZARD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SITOSTEROLEMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, GIANT AXONAL NEUROPATHY-1, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, BENT BONE DYSPLASIA SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, FILS SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, LEUKODYSTROPHY, HYPOMYELINATING, 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5, SCLEROSTEOSIS 2, HYPOPHOSPHATEMIC RICKETS, AR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, CHIME SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, MILLER SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, COFFIN-SIRIS SYNDROME 4, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, ?LAURENCE-MOON SYNDROME, PAGET DISEASE OF BONE 6, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, JOUBERT SYNDROME 14, COFFIN-SIRIS SYNDROME 2, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, BERGER DISEASE, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, CORNELIA DE LANGE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, LOEYS-DIETZ SYNDROME 1, SMITH-MCCORT DYSPLASIA 2, NEPHRONOPHTHISIS 15, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SINGLETON-MERTEN SYNDROME 2, MCKUSICK-KAUFMAN SYNDROME, FAMILIAL MEDITERRANEAN FEVER, AD, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, SMED STRUDWICK TYPE, HYPEROXALURIA, PRIMARY, TYPE 1, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, GELEOPHYSIC DYSPLASIA 1, MICROCEPHALY, AMISH TYPE, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, MASA SYNDROME, CRASH SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, BRACHYDACTYLY, TYPE B1, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, NEMALINE MYOPATHY 9, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 6, CZECH DYSPLASIA, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MUCOLIPIDOSIS II ALPHA/BETA, CEREBROCOSTOMANDIBULAR SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, MUCOLIPIDOSIS III GAMMA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, VESICOURETERAL REFLUX 8, MYOPATHY, TUBULAR AGGREGATE, 1, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, CODAS SYNDROME, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, AGAMMAGLOBULINEMIA, X-LINKED 1, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, BURN-MCKEOWN SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, DU PAN SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, LIEBENBERG SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, DIGITAL CLUBBING, ISOLATED CONGENITAL, LUJAN-FRYNS SYNDROME, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEU-LAXOVA SYNDROME 2, JACKSON-WEISS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, LEUKODYSTROPHY, HYPOMYELINATING, 13, WAARDENBURG SYNDROME, TYPE 3, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SOTOS SYNDROME 2, SPLIT-HAND/FOOT MALFORMATION 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, TENORIO SYNDROME, ?OTOFACIOCERVICAL SYNDROME 2, SHPRINTZEN-GOLDBERG SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, TROYER SYNDROME, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, PSORIASIS 14, PUSTULAR, SECKEL SYNDROME 5, KNIEST DYSPLASIA, RAINE SYNDROME, MENTAL RETARDATION, X-LINKED 21/34, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, SECKEL SYNDROME 9, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, {OSTEOARTHRITIS SUSCEPTIBILITY 3}, WOLCOTT-RALLISON SYNDROME, WEAVER SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, PAGET DISEASE OF BONE 3, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, LERI-WEILL DYSCHONDROSTEOSIS, CRANIOSYNOSTOSIS 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MECKEL SYNDROME 4, BARDET-BIEDL SYNDROME 9, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, MOLYBDENUM COFACTOR DEFICIENCY B, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, SMITH-KINGSMORE SYNDROME

Associated genes: TCF12, CA2, TSC2, RPL5, DNA2, HBB, PITX1, WDR73, PHGDH, PDE4D, NGLY1, SPINT2, ACADS, DNM2, CC2D2A, LBR, GNAS, WNT5A, CIITA, GLI3, COL3A1, PTPN22, ANO3, FTL, PHEX, GUSB, RBBP8, HNRNPDL, ADAMTS18, RBM28, MORC2, SDHA, BBS5, TMEM216, VMA21, SLC33A1, GGCX, BCOR, CDC6, MC2R, CEP120, NLRP12, B2M, TMEM237, SLC17A5, PIEZO2, F8, ENG, HSPB1, SCARF2, KIF1B, PTRH2, RAD51C, ERCC6, SLCO2A1, TBC1D24, JPH1, SEC23A, DOK7, HPGD, FREM1, POMGNT1, AGXT, WNK1, INPP5E, ARSE, KANSL1, PDGFRA, RPS19, TYROBP, SLC6A1, SBF1, ANKLE2, RAB7A, SALL1, CREBBP, TNNT1, EFNB1, HGD, EXOSC8, MED25, EPCAM, DYNC2H1, SLC7A7, MBD5, SNIP1, EVC, MYOT, VANGL1, VLDLR, F7, SCN4A, ALMS1, SOX2, KDM6A, ERBB3, COPA, SQSTM1, NALCN, IFNG, HAMP, IRF5, SLC26A2, SLC39A8, IDS, CYP27A1, CHAMP1, DNMT3A, THRA, TNNI2, CBS, GLI2, CENPF, MTOR, ASAH1, MT-ND6, CASK, ANTXR2, TAF6, CTSA, WNT3, AMER1, MARS2, PTDSS1, MEGF8, CANT1, CHMP1A, CBL, TBX5, SERPINC1, ZNF141, KCNJ1, CTSC, PRX, COMP, CEP164, GPC6, NRXN1, SPARC, SHANK3, AP1S2, CDH3, SGSH, TGFB1, MKKS, UBR1, HSPD1, MKRN3, FCGR2B, SERPINF2, DDHD1, AARS, T, FGD1, GAD1, RYR1, TNNT2, GDF5, RAG2, GNAS-AS1, ANKRD11, ENPP1, TRAPPC9, KMT2A, DUSP6, AHI1, DEAF1, MPDU1, SMC3, ALDH3A2, ALX3, VPS53, SLC12A1, GATA1, ISPD, CAV3, BMP1, BANF1, SYT2, FANCE, PEX26, SLC35A2, PRPS1, LIAS, SUFU, AP4M1, SMAD4, NSDHL, SETD2, MTHFR, CTSK, UFSP2, CHST14, TMCO1, ORC6, CEP290, C1R, SLC35A3, TPM2, CRTAP, SPTLC2, SH3TC2, HPRT1, LAMA3, PNPLA6, CTSD, SOX9, PQBP1, ALG3, IL1RAPL1, SLC40A1, HES7, TCTN1, CCDC28B, SSR4, DDR2, RIPK4, CPT2, PI4KA, AIP, ZNF687, PAPSS2, PCYT1A, FAM177A1, TMEM5, HSD17B10, TRIP4, PRKCD, CHRNA1, HFE, ARID1B, LARP7, CHEK2, EZH2, TWIST1, ARX, MET, RBMX, RNU4ATAC, SLC19A1, MALT1, STAMBP, DHODH, HOXA11, HSPA9, ORC1, GNE, DMP1, XRCC4, MUSK, CALCR, NOD2, CTC1, COQ4, VPS13A, GJC2, COX6A1, ADK, REEP1, IFT122, CHST3, PLEC, CUL4B, LAMC2, ZFPM2, TNFRSF11A, TRIP11, HINT1, ECE1, PMP22, SEPN1, UNC80, PROKR2, PIGN, UBE2A, LAMA2, B9D1, PTPN11, MSX2, PEX12, MAPRE2, KIF14, IFT27, BMPR1B, SPRY4, STAT3, SPATA5, IER3IP1, CHRNB1, NOG, EBP, HLA-B, CPT1C, HMGB3, SPRTN, BRWD3, FMR1, SDHD, FKTN, TNFSF11, COL5A2, ITGA3, EHHADH, NEU1, ERF, GPX4, SNRPN, PLOD2, NLRP5, SNRPB, SLC6A8, GLRA1, COL9A2, RNF113A, CHAT, SOX11, KAT6A, POMK, TFAP2B, FANCL, TMEM138, ATP7A, DHCR24, COX7B, NCF1, CYP7B1, ALB, FGF10, TSC1, HRAS, ARSB, NEFH, PRDM5, PEX5, WNT10B, CCBE1, SLC34A3, FSHB, IL36RN, PEX14, FANCM, GJB6, AUTS2, LRP4, TRAIP, SEC24D, MMP1, PLEKHG5, MKS1, POMT1, SBF2, BBS12, FERMT3, MOCS2, CACNA1B, RAI1, ELOVL4, DPAGT1, CHCHD10, PHF8, TERT, B3GLCT, AP4B1, COL11A2, THAP1, ZIC1, TAF1, ASCC1, LRBA, TTC8, SMC1A, ACAN, MTAP, BMP2, MYH11, SLC2A2, IDUA, ADGRG6, FGF23, ZBTB20, SPG7, FGF20, BBS1, IKBKAP, NPR2, PROK2, TTC21B, NEK8, EOGT, B9D2, CDT1, PCCA, COG6, CYP11B1, CDC73, POR, SETD5, EMD, USP8, RSPRY1, NHS, ESCO2, ABHD12, CLCN7, CUL7, SF3B4, TGFBR2, FIG4, FGFR2, HERC2, DCPS, PCCB, RPS28, TNNT3, SLURP1, TCTN3, SCN11A, MAP2K2, HLA-C, TFAP2A, ADCY6, SRCAP, SP7, TRPV4, ANO5, TMEM231, FAM58A, SGCA, NOTCH1, MYCN, PTRF, FKRP, IL11RA, PIGT, ADAMTSL2, ITGB4, CRIPT, P3H1, TRIM37, CYBB, HOXA13, IRX5, EGR2, SLC29A3, CFL2, TP63, AFF4, POC1A, SGCG, MYO18B, KIF5C, NLRP3, GK, KMT2C, CARD9, MAFB, CRYAB, ADAMTS10, RBM10, KLC2, C2CD3, LRP5, CCDC22, KAT6B, ZMPSTE24, RMRP, TGFB3, HARS, STAC3, SIGMAR1, AP4E1, WDPCP, NLRC4, FANCA, FZD4, WISP3, RAB18, VIPAS39, GPHN, DVL3, UPF3B, FANCD2, BRAF, B4GALT7, SNAP25, LAMB3, B3GAT3, PIGA, MED12, STIM1, LIMS2, DPH1, GNPTG, NT5C2, ITGA8, FOLR1, SFTPA1, IGF1, TREM2, DNAJB6, DARS2, NF2, GNPTAB, CTNS, GHR, CYP27B1, SC5D, GMPPB, RIN2, TAZ, ABCG5, BRAT1, UBE3B, SH3PXD2B, B4GALNT1, KCNJ5, SLC52A2, TSEN54, ANKH, CRB2, NDN, TRIM2, CCDC8, OSTM1, KL, TXNL4A, VDR, MGME1, FGFR1, SMARCE1, NAGLU, FRAS1, YARS, PPIB, HLA-DQB1, NCF2, LRP2, EMC1, MFN2, CLIC2, VPS33B, C8orf37, LHX4, UROS, LMNB2, PPT1, PIGR, PSTPIP1, PSMB8, SFTPB, KCNQ1OT1, WDR19, PEX1, NF1, ARNT2, FREM2, LZTR1, KCNH1, MAF, ANTXR1, FAH, PLP1, ITGA6, SLC39A13, KIT, MT-ND3, SCYL1, REEP2, CLCF1, DDX41, ARL6, COL6A2, ZNF469, SACS, CHRNE, SETX, AIMP1, PIK3R1, PLS3, SLC12A6, FBLN1, SLC9A6, ACTG1, ARID1A, ZC4H2, GNS, RMND1, RFT1, UBA1, FAM126A, P4HB, HYLS1, TBC1D7, MFSD2A, COLQ, KMT2D, DDX58, EIF2AK3, SPEG, SPTLC1, STAT1, IFT43, EXOC8, TBCE, CACNA1C, TFR2, RECQL4, NOTCH2, COL6A3, TRMT10A, ASNS, C5orf42, BLM, DNMT1, NIPBL, SLC12A3, WDR60, RB1, PEX10, SHMT1, OFD1, COLEC11, PCNA, GBA2, PGM3, AGA, SDHAF1, APC, FLNB, IFITM5, SLC16A2, TMEM67, AP2S1, DAG1, IGHMBP2, SMOC1, MGP, NOP10, SMAD3, MTMR14, ALDH18A1, HSPG2, C19orf12, SKI, C10orf2, F10, VPS13B, SATB2, PLCB4, DCHS1, DDX59, ARL6IP1, F2, TNFRSF1A, KIF5A, MYH14, DCAF8, EMG1, MED13L, KCNJ6, IGBP1, LARGE1, TPI1, RAD21, SDHC, IFIH1, RPS17, FUCA1, GATAD2B, IKBKG, TCTN2, HEXB, EFTUD2, BBS7, RPS26, ATP6V1B2, AGT, PMM2, GCK, GNAI3, MGAT2, CDK5, TRAPPC2, TREX1, FLRT3, KDM1A, PSAT1, WDR35, RPGRIP1L, BTK, CD96, EIF4A3, SOS1, NEB, FRZB, STK11, FGF17, PTCH2, IL10, PRG4, NDRG1, ITCH, PDE6D, SEPSECS, PPP1R15B, RPL15, COL1A1, COL10A1, BBS2, PIK3CA, NOTCH3, LTBP4, PAX1, BMPER, JAG1, HNRNPA1, GHSR, SBDS, TNFRSF11B, ECEL1, NAA10, MIR17HG, ROBO3, GRID2, HK1, COL2A1, RBPJ, VPS37A, ZDHHC15, BMS1, PCNT, ACTA1, VRK1, EDNRA, ACTB, GRIP1, TBX15, SMARCA4, ADA, DSP, TWIST2, SLC2A10, CDKL5, FAM134B, CLCN5, BBS10, GPC3, ORAI1, IGF2, ANOS1, NT5E, CLUAP1, NRAS, CECR1, PTF1A, APTX, MAPT, FANCC, GATA2, ADCK3, AP4S1, SH3BP2, MPL, MMP13, MOGS, COL1A2, HNRNPK, FIBP, ARHGAP11A, MSMO1, ALS2, CEP152, CTDP1, PLOD1, ABCC6, PLOD3, KDM5C, HGSNAT, LMNA, CRLF1, POGZ, KARS, ACP5, MYBPC1, SNX14, DYNC1H1, IMPAD1, SFTPA2, SLC25A46, PFKM, EVC2, DSE, SNX10, ABCG8, ERCC5, NR2F1, FKBP14, TMEM173, SLC5A7, PEX3, TSHB, ESR1, CENPJ, FGD4, ZNF335, XYLT2, SLC22A4, RPS6KA3, TFG, ERCC8, VCP, IFT140, ALX4, G6PC, INS, LAMP2, PAM16, PIK3R2, BSCL2, ICR1, COL7A1, FCGR2A, FAM20C, ATL1, SETBP1, UBE2T, DDHD2, DKC1, SMPD1, ALOX12B, SHOXY, C15orf41, FBXO38, PDE11A, EXT1, SLC25A19, G6PC3, GALNT3, SDCCAG8, LMX1B, PIGO, HLA-DRB1, KRAS, HSPB8, REN, TBC1D20, MAB21L2, BICD2, CCT5, HNF4A, ACVR1, RAPSN, MBTPS2, LEMD3, LTBP2, ROR2, BRCA1, MYH2, PTHLH, ATL3, TUBB3, NGF, DYM, SMS, FOXC2, METTL23, MNX1, PDK3, RUNX2, FBN1, MT-ND1, IHH, ORC4, POLD1, EDN1, ZBTB42, TMEM165, TINF2, DPM2, TTN, TSHR, ABCG2, H19, NONO, F13A1, PAX3, SLC9A3R1, LZTFL1, DST, COX10, CHRND, CHD7, EHMT1, SRD5A3, GSC, HIKESHI, GBE1, PRDM12, ASXL1, FGF14, FBXL4, SMARCB1, HDAC8, MYH7, AGPS, ZAK, SPECC1L, MT-ND4, PUF60, PRKCSH, CENPE, PANK2, TNFAIP3, NEFL, TTI2, AP3B1, COL11A1, NTRK1, ERCC4, DMD, UPK3A, WAS, NEK1, TBX4, SAMHD1, KCNA1, TCF4, NFKBIL1, SOST, FSHR, POLE, LONP1, GORAB, CD244, RBCK1, VAMP1, LRSAM1, TIMM8A, C12orf65, GBA, KCTD1, CYBA, IL17RD, ABCC9, PIP5K1C, ARMC5, RPL26, STRADA, TRH, COL18A1, BBS9, GRM1, PTH1R, MOCS1, MFAP5, FGF16, PEX6, POLG, MTR, MYH8, TBX1, SFTPC, ADNP, AGPAT2, HTRA1, BAG3, IRF6, MPLKIP, ZSWIM6, MEGF10, KIF1BP, ALG13, SLC37A4, BRCA2, DLL4, PIGV, ZFYVE26, POLR1A, BBIP1, GNB4, KISS1, MPZ, DES, ZFYVE27, CHRNG, SLC52A3, RAG1, TCIRG1, SLC17A3, TAPT1, GDF6, ERCC1, ALG2, NBAS, CKAP2L, SOX5, BHLHA9, NKX3-2, DDX3X, TBX3, KIF22, TUBB, MUC5B, ADAMTS2, COL5A1, FAM111A, OTX2, TSR2, PRKAR1A, GALNS, PHYH, GAN, TRPS1, KISS1R, TRAF3IP1, SOX10, NR1I3, PAX8, GLIS3, COL27A1, AKT3, MAN2B1, TNPO3, RAB3GAP2, IBA57, EFEMP2, CLASP1, TGFBR1, PEX7, PDLIM4, HNF1B, MPV17, PLA2G6, TGM1, KIAA0586, MMP2, PIGL, BMP4, MEFV, ERCC2, COL13A1, XYLT1, ATRX, MTMR2, LTBP3, WFS1, FAT4, POU1F1, KIF7, OCRL, HLA-DQA1, COL9A3, THRB, TGDS, FBXO7, PDGFRB, CYP2R1, PTCH1, WNT7A, PIGY, MIR2861, MASP1, MEOX1, FBLN5, TP53, NIPA1, ABCA12, RIPPLY2, CCDC170, CAPN3, PACS1, WRN, AGTR1, IFT172, HSD11B1, GLUL, PIEZO1, MTM1, COL6A1, TPM3, SLC34A1, MATN3, DNAJB2, SDHB, GARS, PAX2, RTN2, SHOX, LIFR, MECOM, SPG20, DOCK6, DDX11, GNAI2, HS6ST1, UCHL1, GLA, PYCR1, NSUN2, FAM111B, PDE3A, RAB3GAP1, SALL4, ZIC3, TNXB, DVL1, WNT1, LMOD3, EP300, HDAC6, SLC4A1, ATP6V0A2, RTEL1, GDAP1, UBB, POMT2, IARS2, ZBTB16, KIF1A, NLRP1, GNPAT, KLHL41, TRIM32, CNTN1, FERMT1, ZNF408, COL9A1, SEC23B, ABCC8, LRP6, CARD14, ARHGAP31, FGFR3, C12orf57, LARS, NECTIN4, SLX4, KCNJ11, DNASE1, GJA1, NIN, UPB1, SHOC2, PHF6, MYH3, WDR81, USP9X, INF2, VWF, MRPS16, HESX1, TBX6, MECP2, SMARCA2, MVK, KPTN, PADI4, TGFB2, CASR, SLC6A17, CTLA4, RAB33B, SMARCAL1, DPM1, PYCR2, PMPCA, FOXG1, IL1RN, FBN2, CCND2, NDE1, HYAL1, PRKDC, EXT2, COQ7, SURF1, FLVCR1, IGF1R, CFI, RBM8A, TAF2, SEC63, NME1, ATP1A3, SLC25A4, HOXD10, TOR1A, COASY, CHSY1, TRPV3, MAGEL2, LITAF, CDKN1C, ATP7B, RNF125, SIL1, SEMA3E, B3GALT6, WDR34, FGF9, ICK, NECTIN1, CHRM3, USB1, INPPL1, ERLIN2, GJB1, SUMF1, NHP2, AKT1, GLE1, ACE, ALG1, FLNA, TALDO1, BIN1, MCM9, RAB23, FHL1, GJB2, DPYS, PEX2, HSD17B4, DHCR7, FKBP10, CEP41, TRAPPC11, ENTPD1, GLB1, ANO10, SPG11, DLX3, BRF1, NSD1, SOBP, PRKACA, DLX5, FXN, INSR, LMBR1, CDAN1, KIAA0196, SCN9A, SERPINH1, CEP57, TANGO2, FLVCR2, COL17A1, ZNF592, CNTNAP1, PLCG2, SPAST, UMOD, UBE3A, MARS, RPL11, GCH1, COX4I2, L1CAM, OPA1, BBS4, TACO1, PRSS23, RET, PEX19, KCNJ2, PTEN, TBXAS1, HACE1, HOXD13, EXOSC3, ITGA7, NAGA, IFT80, UQCC2, ASPN, COL4A3BP, STX16, NFIX, ATR, ZNF81, GOSR2, ALPL, SLC35D1, HFE2, COX15, MTRR, PORCN, TERC, FTO