ABNORMALITY OF LIMBS, HP:0040064

Associated diseases: PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, VERHEIJ SYNDROME, PEROXISOME BIOGENESIS DISORDER 5B, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, AMYOTROPHIC LATERAL SCLEROSIS 21, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, ROBINOW-SORAUF SYNDROME, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, CAPOS SYNDROME, GRACILE BONE DYSPLASIA, WOLFRAM SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 5, SECKEL SYNDROME 2, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, LUJAN-FRYNS SYNDROME, MULTIPLE SULFATASE DEFICIENCY, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, RETINITIS PIGMENTOSA 64, CONE-ROD DYSTROPHY 16, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, FANCONI ANEMIA, COMPLEMENTATION GROUP P, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, DANON DISEASE, CATSHL SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, BARDET-BIEDL SYNDROME 17, HOLOPROSENCEPHALY-9, HPRT-RELATED GOUT, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, MULTIPLE SYNOSTOSES SYNDROME 1, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, VELOCARDIOFACIAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), ?STEEL SYNDROME, MANDIBULOACRAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, RUIJS-AALFS SYNDROME, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, FILIPPI SYNDROME, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SPINOCEREBELLAR ATAXIA 27, WARSAW BREAKAGE SYNDROME, CATEL-MANZKE SYNDROME, GAUCHER DISEASE, TYPE IIIC, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, ARTHROGRYPOSIS, DISTAL, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, CRANIOLENTICULOSUTURAL DYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), CEREBRAL CREATINE DEFICIENCY SYNDROME 1, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, HELSMOORTEL-VAN DER AA SYNDROME, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, OCCIPITAL HORN SYNDROME, JOHANSON-BLIZZARD SYNDROME, RAPADILINO SYNDROME, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, PERRAULT SYNDROME 1, ACHONDROPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LANGER MESOMELIC DYSPLASIA, HYPOCHONDROPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, SPINAL MUSCULAR ATROPHY-4, SECKEL SYNDROME 7, MUCOPOLYSACCHARIDOSIS II, ?MARDEN-WALKER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, FEINGOLD SYNDROME 2, PEUTZ-JEGHERS SYNDROME, PACHYONYCHIA CONGENITA 3, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, SINGLETON-MERTEN SYNDROME 1, SYNDACTYLY, TYPE III, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, SPLIT-HAND/FOOT MALFORMATION 6, MELNICK-FRASER SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, FLOATING-HARBOR SYNDROME, ?LAURENCE-MOON SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY, ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, CRANIOSYNOSTOSIS 3, PRADER-WILLI SYNDROME, CHOREOACANTHOCYTOSIS, DERMATOPATHIA PIGMENTOSA RETICULARIS, ?TETRA-AMELIA SYNDROME, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, COWDEN SYNDROME 6, ACROMELIC FRONTONASAL DYSOSTOSIS, JOUBERT SYNDROME 15, FRONTONASAL DYSPLASIA 1, JACKSON-WEISS SYNDROME, NATIVE AMERICAN MYOPATHY, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, HEIMLER SYNDROME 2, BRACHYDACTYLY, TYPE A1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL, 3-M SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, LISSENCEPHALY 6, WITH MICROCEPHALY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, LYSYL HYDROXYLASE 3 DEFICIENCY, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, EMBERGER SYNDROME, METAPHYSEAL ANADYSPLASIA 2, CULLER-JONES SYNDROME, KAHRIZI SYNDROME, PELGER-HUET ANOMALY, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NESTOR-GUILLERMO PROGERIA SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, ?JOUBERT SYNDROME 22, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, SMITH-MCCORT DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE V, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, AYME-GRIPP SYNDROME, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NANCE-HORAN SYNDROME, ?WEBB-DATTANI SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?MECKEL SYNDROME 12, ?FANCONI RENOTUBULAR SYNDROME 3, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, MUCOPOLYSACCHARIDOSIS VII, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), BRACHYDACTYLY, TYPE A2, BRACHYDACTYLY, TYPE E, SCHNECKENBECKEN DYSPLASIA, MUENKE SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, TARP SYNDROME, ?HIP DYSPLASIA, BEUKES TYPE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MYOPATHY, MYOFIBRILLAR, 4, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, MEIER-GORLIN SYNDROME 2, CORNELIA DE LANGE SYNDROME 5, ?AL-GAZALI-BAKALINOVA SYNDROME, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, SYNDACTYLY, TYPE V, SPLIT-HAND/FOOT MALFORMATION 4, OGDEN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, NEMALINE MYOPATHY 6, AUTOSOMAL DOMINANT, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, ADAMS-OLIVER SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, ?SECKEL SYNDROME 4, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, WAARDENBURG SYNDROME, TYPE 3, FRAGILE X SYNDROME, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, COCOON SYNDROME, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, MUCOLIPIDOSIS III ALPHA/BETA, NAIL-PATELLA SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, IMAGE SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, PETERS-PLUS SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, ODONTOONYCHODERMAL DYSPLASIA, SMITH-MAGENIS SYNDROME, DESBUQUOIS DYSPLASIA 1, ?MICROHYDRANENCEPHALY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, JOUBERT SYNDROME 23, METACHONDROMATOSIS, WARBURG MICRO SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, SED, MAROTEAUX TYPE, METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, IVIC SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, ROUSSY-LEVY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, SILVER SPASTIC PARAPLEGIA SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 1B, CARTILAGE-HAIR HYPOPLASIA, METATROPIC DYSPLASIA, MICROPHTHALMIA, ISOLATED 4, OSTEOLYSIS, FAMILIAL EXPANSILE, KAUFMAN OCULOCEREBROFACIAL SYNDROME, OROFACIODIGITAL SYNDROME VI, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, MYASTHENIC SYNDROME, CONGENITAL, 19, DYGGVE-MELCHIOR-CLAUSEN DISEASE, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, SHAHEEN SYNDROME, GAUCHER DISEASE, TYPE I, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, CHEDIAK-HIGASHI SYNDROME, BRACHYOLMIA TYPE 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, BRACHYDACTYLY, TYPE B2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MUCOPOLYSACCHARIDOSIS IVA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, COCKAYNE SYNDROME, TYPE A, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, SMED STRUDWICK TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, WEISSENBACHER-ZWEYMULLER SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, ATELOSTEOGENESIS, TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MELNICK-NEEDLES SYNDROME, MECKEL SYNDROME 2, WEAVER SYNDROME, BLAU SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BORJESON-FORSSMAN-LEHMANN SYNDROME, GAUCHER DISEASE, ATYPICAL, PACHYONYCHIA CONGENITA 2, COENZYME Q10 DEFICIENCY, PRIMARY, 4, MACHADO-JOSEPH DISEASE, LIMB-MAMMARY SYNDROME, MUCOPOLYSACCHARIDOSIS IS, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, ISCHIOCOXOPODOPATELLAR SYNDROME, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, HYPOPHOSPHATASIA, INFANTILE, OROFACIODIGITAL SYNDROME I, ANAUXETIC DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, PYCNODYSOSTOSIS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MYOTONIA CONGENITA, RECESSIVE, ?REYNOLDS SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, LOWE SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EXOSTOSES, MULTIPLE, TYPE 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE XVII, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, ?BARDET-BIEDL SYNDROME 11, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, BRACHYDACTYLY, TYPE C, POLYDACTYLY, PREAXIAL, TYPE IV, ACROMICRIC DYSPLASIA, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 5D, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, SHPRINTZEN-GOLDBERG SYNDROME, OROFACIODIGITAL SYNDROME IV, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?MULTIPLE SYNOSTOSES SYNDROME 3, CENANI-LENZ SYNDACTYLY SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, OSTEOGENESIS IMPERFECTA, TYPE IV, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIG, OMODYSPLASIA 1, MECKEL SYNDROME 11, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, 3MC SYNDROME 2, CONGENITAL DISORDER OF DEGLYCOSYLATION, C SYNDROME, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, ?STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, CUTIS LAXA, AUTOSOMAL DOMINANT 3, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, ?ABRUZZO-ERICKSON SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, BRACHYDACTYLY, TYPE A1, C, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, ALAGILLE SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, ?BARDET-BIEDL SYNDROME 18, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, MULTIPLE SYNOSTOSES SYNDROME 2, FANCONI ANEMIA, COMPLEMENTATION GROUP O, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, CK SYNDROME, MARTSOLF SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, ARTHROGRYPOSIS, DISTAL, TYPE 8, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, TRIPHALANGEAL THUMB, TYPE I, POLYDACTYLY, PREAXIAL TYPE II, MYOPATHY, MYOFIBRILLAR, 1, ACHEIROPODY, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, ACHONDROGENESIS IB, TARSAL-CARPAL COALITION SYNDROME, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, BEHR SYNDROME, MYOPATHY, SPHEROID BODY, MYOPATHY, TUBULAR AGGREGATE, 2, LEOPARD SYNDROME 1, VAN DEN ENDE-GUPTA SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, ?POLYDACTYLY, POSTAXIAL, TYPE A6, OROFACIODIGITAL SYNDROME V, METACARPAL 4-5 FUSION, SADDAN, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, HERMANSKY-PUDLAK SYNDROME 2, SYMPHALANGISM, PROXIMAL, 1A, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, ARTERIAL TORTUOSITY SYNDROME, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, SCLEROSTEOSIS 1, JOUBERT SYNDROME 10, DIHYDROPYRIMIDINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 5, ROIFMAN SYNDROME, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, CHAR SYNDROME, PALLISTER-HALL SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, JOUBERT SYNDROME 20, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, PEROXISOME BIOGENESIS DISORDER 3B, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, CATARACT 5, MULTIPLE TYPES, FRASER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 5, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, MECKEL SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, KINDLER SYNDROME, LEOPARD SYNDROME 2, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, SPONDYLOPERIPHERAL DYSPLASIA, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, CHIME SYNDROME, ?MUCOPOLYSACCHARIDOSIS TYPE IX, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MUSCULAR DYSTROPHY, CONGENITAL, ?DIAMOND-BLACKFAN ANEMIA 12, MECKEL SYNDROME 3, CAMURATI-ENGELMANN DISEASE, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA, 46XY SEX REVERSAL 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, OSTEOGENESIS IMPERFECTA, TYPE VII, DESBUQUOIS DYSPLASIA 2, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MICROPHTHALMIA, SYNDROMIC 2, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, DOOR SYNDROME, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, MARSHALL-SMITH SYNDROME, ?HYDROLETHALUS SYNDROME 2, NEU-LAXOVA SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, JAWAD SYNDROME, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, HYPEREKPLEXIA HEREDITARY, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, CHOPS SYNDROME, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, MELEDA DISEASE, ICHTHYOSIS WITH CONFETTI, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, CEREBELLOFACIODENTAL SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, LARSEN SYNDROME, ASPARAGINE SYNTHETASE DEFICIENCY, ESCOBAR SYNDROME, MYOPATHY, MYOFIBRILLAR, 3, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, ADAMS-OLIVER SYNDROME 4, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, LESCH-NYHAN SYNDROME, ?OLMSTED SYNDROME, X-LINKED, ULNAR-MAMMARY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, 3MC SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44, AVASCULAR NECROSIS OF THE FEMORAL HEAD, ALLAN-HERNDON-DUDLEY SYNDROME, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, BOWEN-CONRADI SYNDROME, VAN MALDERGEM SYNDROME 2, BOOMERANG DYSPLASIA, SENIOR-LOKEN SYNDROME 9, FUHRMANN SYNDROME, HEART-HAND SYNDROME, SLOVENIAN TYPE, CHONDRODYSPLASIA, GREBE TYPE, OSTEOGENESIS IMPERFECTA, TYPE XIII, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CPT II DEFICIENCY, LETHAL NEONATAL, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, MARSHALL SYNDROME, WARBURG MICRO SYNDROME 3, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BARDET-BIEDL SYNDROME 10, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, ANDERSEN SYNDROME, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, TEMTAMY SYNDROME, PROPIONICACIDEMIA, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, COUSIN SYNDROME, ADAMS-OLIVER SYNDROME 3, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, GLASS SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, BRUCK SYNDROME 1, BROWN-VIALETTO-VAN LAERE SYNDROME 2, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, POPLITEAL PTERYGIUM SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OROFACIAL CLEFT 7, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, FANCONI ANEMIA, COMPLEMENTATION GROUP G, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FANCONI ANEMIA, COMPLEMENTATION GROUP E, SYMPHALANGISM, PROXIMAL, 1B, STICKLER SYNDROME, TYPE IV, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, WARBURG MICRO SYNDROME 2, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, SC PHOCOMELIA SYNDROME, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), DENT DISEASE, MENTAL RETARDATION, X-LINKED 93, DEJERINE-SOTTAS DISEASE, MYOPATHY, DISTAL, 4, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, PARASTREMMATIC DWARFISM, FANCONI ANEMIA, COMPLEMENTATION GROUP T, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ?BARDET-BIEDL SYNDROME 19, EPISODIC ATAXIA/MYOKYMIA SYNDROME, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MICROPHTHALMIA, SYNDROMIC 14, JOUBERT SYNDROME 24, ?MENTAL RETARDATION, X-LINKED 91, LOEYS-DIETZ SYNDROME 2, SCALP-EAR-NIPPLE SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?INFANTILE LIVER FAILURE SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP J, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, GLUTAMINE DEFICIENCY, CONGENITAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, TEMPLE-BARAITSER SYNDROME, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MENTAL RETARDATION, X-LINKED SYNDROMIC, TURNER TYPE, GIANT AXONAL NEUROPATHY-1, ALSTROM SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, BARDET-BIEDL SYNDROME 7, LEPRECHAUNISM, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, MECKEL SYNDROME 10, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, MIYOSHI MUSCULAR DYSTROPHY 3, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, DIAMOND-BLACKFAN ANEMIA 6, PHELAN-MCDERMID SYNDROME, SPONDYLOOCULAR SYNDROME, TERMINAL OSSEOUS DYSPLASIA, EPIDERMOLYTIC HYPERKERATOSIS, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, HAND-FOOT-UTERUS SYNDROME, HYDROLETHALUS SYNDROME, DUANE-RADIAL RAY SYNDROME, PITT-HOPKINS SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?OROFACIODIGITAL SYNDROME XIV, MECKEL SYNDROME 6, OHDO SYNDROME, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, BETHLEM MYOPATHY 1, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, ?DIAMOND-BLACKFAN ANEMIA 11, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GERODERMA OSTEODYSPLASTICUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SCLEROSTEOSIS 2, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, BRACHYDACTYLY, TYPE D, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MICROPHTHALMIA WITH LIMB ANOMALIES, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE I, COLD-INDUCED SWEATING SYNDROME 2, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOECTODERMAL DYSPLASIA 1, AL-RAQAD SYNDROME, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, BURN-MCKEOWN SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 2, VITAMIN D-DEPENDENT RICKETS, TYPE I, TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COHEN SYNDROME, OCULOECTODERMAL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, HAIM-MUNK SYNDROME, SOTOS SYNDROME 1, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, SILVER-RUSSELL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 6, KBG SYNDROME, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 2, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, MUCOLIPIDOSIS III GAMMA, PAPILLON-LEFEVRE SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, PROUD SYNDROME, CONOTRUNCAL HEART MALFORMATIONS, VARIABLE, CONOTRUNCAL HEART MALFORMATIONS, PERSISTENT TRUNCUS ARTERIOSUS, DOUBLE-OUTLET RIGHT VENTRICLE, CONOTRUNCAL ANOMALY FACE SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, NASU-HAKOLA DISEASE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, VACTERL ASSOCIATION, X-LINKED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE WITH AXONAL NEUROPATHY, OPITZ-KAVEGGIA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XI, ?GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT, MEIER-GORLIN SYNDROME 4, ?CRANIOECTODERMAL DYSPLASIA 4, TYLOSIS WITH ESOPHAGEAL CANCER, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, NEPHRONOPHTHISIS 15, PACHYONYCHIA CONGENITA 1, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, BARDET-BIEDL SYNDROME 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, MCKUSICK-KAUFMAN SYNDROME, PHYTANIC ACID STORAGE DISEASE, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, BARDET-BIEDL SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VI, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, 2, YUNIS-VARON SYNDROME, PEROXISOME BIOGENESIS DISORDER 6B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, COWDEN SYNDROME 5, MYHRE SYNDROME, LAURIN-SANDROW SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, ?MECKEL SYNDROME 8, RENAL ADYSPLASIA, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, BRITTLE CORNEA SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, AICARDI-GOUTIERES SYNDROME 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, HYPOPHOSPHATEMIC RICKETS, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, LADD SYNDROME, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MICROCEPHALY, AMISH TYPE, APERT SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, GELEOPHYSIC DYSPLASIA 2, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?FACIAL CLEFTING, OBLIQUE, 1, SECKEL SYNDROME 1, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, BRACHYDACTYLY, TYPE B1, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, STAR SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, GUTTMACHER SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FASCIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CZECH DYSPLASIA, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, CARPENTER SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, HYPOPLASTIC OR APLASTIC TIBIA WITH POLYDACTYLY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, CEREBROOCULOFACIOSKELETAL SYNDROME 4, PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, MUCOLIPIDOSIS II ALPHA/BETA, CHONDRODYSPLASIA, BLOMSTRAND TYPE, GALLOWAY-MOWAT SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, COACH SYNDROME, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, BLOOM SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, PRIMROSE SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, INTERSTITIAL LUNG AND LIVER DISEASE, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, BARDET-BIEDL SYNDROME 6, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, GNATHODIAPHYSEAL DYSPLASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, STICKLER SYNDROME, TYPE I, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, FANCONI ANEMIA, COMPLEMENTATION GROUP N, MYOPATHY, TUBULAR AGGREGATE, 1, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, OSTEOGENESIS IMPERFECTA, TYPE VIII, JOUBERT SYNDROME 17, MILLER SYNDROME, BARDET-BIEDL SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, KABUKI SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MEIER-GORLIN SYNDROME 1, MENTAL RETARDATION, X-LINKED 99, JOUBERT SYNDROME 16, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, RETT SYNDROME, CONGENITAL VARIANT, RUBINSTEIN-TAYBI SYNDROME, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DIAPHANOSPONDYLODYSOSTOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP B, THANATOPHORIC DYSPLASIA, TYPE II, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, ADULT SYNDROME, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, ?OTOFACIOCERVICAL SYNDROME, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, BARDET-BIEDL SYNDROME 8, ABLEPHARON-MACROSTOMIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, BARDET-BIEDL SYNDROME 4, DESMOSTEROLOSIS, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LERI-WEILL DYSCHONDROSTEOSIS, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, LIEBENBERG SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, DIGITAL CLUBBING, ISOLATED CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, FEINGOLD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MEIER-GORLIN SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MAST SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?MECKEL SYNDROME 9, BRUCK SYNDROME 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, JOUBERT SYNDROME 2, ALKAPTONURIA, ROTHMUND-THOMSON SYNDROME, NEU-LAXOVA SYNDROME 2, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, ARTHROGRYPOSIS, DISTAL, TYPE 2A, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, KOOLEN-DE VRIES SYNDROME, KEUTEL SYNDROME, ACHONDROGENESIS, TYPE IA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORPUS CALLOSUM AGENESIS, VAN MALDERGEM SYNDROME 1, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, SPLIT-HAND/FOOT MALFORMATION 1, ?WINCHESTER SYNDROME, BARDET-BIEDL SYNDROME 13, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, SPINAL MUSCULAR ATROPHY-1, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, WIEACKER-WOLFF SYNDROME, ?OTOFACIOCERVICAL SYNDROME 2, STICKLER SYNDROME, TYPE II, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, POLYGLUCOSAN BODY MYOPATHY 2, CORNELIA DE LANGE SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?DYSTONIA, JUVENILE-ONSET, TROYER SYNDROME, SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {OSTEOARTHRITIS SUSCEPTIBILITY 2}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RAINE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, A, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, CRANIOECTODERMAL DYSPLASIA 3, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, SPASTIC PARAPLEGIA 2, X-LINKED, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, LATHOSTEROLOSIS, PERRAULT SYNDROME 5, CHILD SYNDROME, SYNDACTYLY, TYPE IV, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, DARIER DISEASE, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, MENTAL RETARDATION, X-LINKED 9, JOUBERT SYNDROME 7, PCWH SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, VOHWINKEL SYNDROME, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, CRANIOECTODERMAL DYSPLASIA 2, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, SCHAAF-YANG SYNDROME, ADERMATOGLYPHIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, COLD-INDUCED SWEATING SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, JOUBERT SYNDROME 14, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, WILSON-TURNER SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, GELEOPHYSIC DYSPLASIA 1, MECKEL SYNDROME 5, {OSTEOARTHRITIS SUSCEPTIBILITY 3}, WOLCOTT-RALLISON SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, DIAMOND-BLACKFAN ANEMIA 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, GM1-GANGLIOSIDOSIS, TYPE III, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, JOUBERT SYNDROME 18, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID, SHWACHMAN-DIAMOND SYNDROME, ?SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MENTAL RETARDATION, X-LINKED SYNDROMIC, RAYMOND TYPE, MECKEL SYNDROME 4, CRANIOSYNOSTOSIS WITH RADIOHUMERAL FUSIONS AND OTHER SKELETAL AND CRANIOFACIAL ANOMALIES, BARDET-BIEDL SYNDROME 9, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, GM1-GANGLIOSIDOSIS, TYPE II, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CODAS SYNDROME, KABUKI SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CORNELIA DE LANGE SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, ATELOSTEOGENESIS, TYPE III, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2

Associated genes: TCF12, DNA2, TMEM216, PITX1, WDR73, TCTN3, LMNA, NGLY1, LFNG, CC2D2A, NALCN, GNAS, WNT5A, GLI3, COL3A1, PUF60, SFTPA2, ADGRG1, RBBP8, MORC2, COLQ, SLC33A1, GGCX, CDC6, CEP120, KDM6A, B2M, TMEM237, SLC17A5, PIEZO2, NOG, HSPB1, SCARF2, PTRH2, TERT, ERCC6, TBC1D24, JPH1, GNPTAB, SHROOM4, HPGD, RTN2, WNK1, ARSE, KANSL1, TYROBP, PEX2, SBF1, PHF6, RAB7A, SALL1, NGF, GNE, HGD, MAFB, DYNC2H1, RAF1, EVC, MYOT, VLDLR, ATRX, ALMS1, BCOR, MEGF10, LBR, COL6A2, SLC26A2, IDS, RBM28, SHMT1, DAG1, GLI2, BBS9, TSEN2, MGAT2, BMPR1A, FANCB, COL9A2, PYCR1, CBL, TBX5, SMARCE1, ZNF141, NR1I3, NSUN2, COMP, CEP164, GPC6, RPL5, SPARC, AAAS, PDE3A, TGFB1, MKKS, UBR1, HSPD1, ROR2, DDHD1, ATP6V1B2, KRAS, ARL6, TNNT2, FBXL4, GNAS-AS1, ANKRD11, ADAMTSL2, KMT2A, SMC3, GATA1, ISPD, CAV3, BMP1, BANF1, RMRP, FANCE, HSPB3, TRAF3IP1, PRPS1, BBS5, SUFU, AP4M1, SMAD4, MTHFR, CTSK, UFSP2, CHST14, TMCO1, CEP290, SLC35A3, TPM2, CRTAP, TNFSF11, SH3TC2, HPRT1, LAMA3, PNPLA6, MATR3, SOX9, PQBP1, VMA21, PPP2R1A, TUBB, TCTN1, AP4E1, FLVCR1, DDR2, RIPK4, CPT2, PI4KA, ICR1, PAPSS2, PCYT1A, FAM177A1, MASP1, HSD17B10, BRIP1, DYRK1A, CHRNA1, SLC6A17, ARID1B, RHBDF2, EZH2, TWIST1, NSDHL, PCCA, SLC19A1, AARS, HOXA11, OBSL1, ORC1, EFNB1, MBD5, LAMP2, MUSK, CHMP1A, NOD2, NAA10, CTC1, MTM1, GJC2, ADK, EYA1, IFT122, CHST3, CUL4B, ALS2, ZFPM2, TNFRSF11A, TRIP11, HINT1, IGHMBP2, HNRNPK, SEPN1, LAMC2, SLC34A3, PIGL, SEC23A, WNT3, COL5A2, PEX12, MAPRE2, SPG7, IFT27, SPATA5, AP4S1, ENG, CPT1C, WNT10A, SPRTN, BRWD3, DPYS, FTSJ1, FKTN, CTSC, SNX14, EHHADH, SPTLC2, GPX4, SNRPN, NLRP5, SNRPB, SLC6A8, GLRA1, CTNS, SOX11, FANCL, CDK5RAP2, ATXN3, AP3B1, DHCR24, COX7B, KRT14, CYP7B1, ALB, FGF10, EXOC8, HRAS, PDE4D, GCH1, MMP1, SIGMAR1, PEX5, WNT10B, CCBE1, FANCM, GJB6, TREX1, IRX5, RNU4ATAC, ACAN, MKS1, POMT1, SBF2, STIM1, HSF4, RAI1, CHCHD10, B3GLCT, AP4B1, PCCB, B3GALT6, PTDSS1, CCT5, TTC8, MTAP, BMP2, UBE2A, IDUA, ADGRG6, FGF23, ZBTB20, KCNA1, LRBA, UBE3B, GATA4, NPR2, TTC21B, NEK8, EOGT, DES, CDT1, TFAP2B, GALNS, POR, BBS2, TERC, EMD, DLL4, INPP5E, NHS, ESCO2, CUL7, KIF1A, TGFBR2, FIG4, AGPS, DCPS, KRT5, TNNT3, HDAC6, NDE1, MAP2K2, AP5Z1, FGF9, CREBBP, SRCAP, DPAGT1, TRPV4, ANO5, TMEM231, FAM58A, SGCA, NOTCH1, MYCN, FKRP, IL11RA, C12orf57, ITGB4, FAM126A, CRIPT, P3H1, CHUK, EGR2, SNIP1, AFF4, POC1A, MYO18B, B9D2, KMT2C, CRYAB, ADAMTS10, RBM10, MRPS16, C2CD3, LRP5, CCDC22, KAT6B, ZMPSTE24, SYT2, MPZ, HARS, STAC3, ANO10, GDF1, PMP22, ALG3, WDPCP, FA2H, FANCA, WISP3, RAB18, VIPAS39, GPHN, UPF3B, FANCD2, BRAF, LAMB3, ORC4, BBS12, B4GALT7, ALPL, GNPTG, NT5C2, ITGA8, FOLR1, SFTPA1, TARS2, IGF1, TREM2, DNAJB6, CBS, VAMP1, SLC29A3, CYP27B1, KLC2, ANKLE2, RIN2, TAZ, NIN, SH3PXD2B, B4GALNT1, KCNJ5, SLC52A2, ANKH, MFAP5, NDN, TRIM2, TNFRSF11B, TXNL4A, VDR, SMN2, FGFR1, DVL1, FRAS1, TMEM138, SOX18, SLC16A2, MFN2, ARL6IP1, C8orf37, TCTN2, UROS, LMNB2, CCDC28B, PSMB8, ADNP, WDR19, NF1, VPS13B, FREM2, KCNH1, MAF, ARHGAP11A, PLP1, SLC39A13, DYNC1H1, DHODH, CENPJ, TCAP, CLCF1, SHOXY, AR, ZNF469, SACS, CHRNE, SETX, PPP2R5D, SLC12A6, FBLN1, ATP2A2, ZC4H2, RFT1, XYLT1, SOST, LONP1, GATA6, KMT2D, FIBP, EIF2AK3, EMG1, SPTLC1, IFT43, SDHB, TBCE, CACNA1C, RECQL4, IGF1R, NOTCH2, COL6A3, MED12, BLM, NIPBL, VPS13A, WDR60, PEX10, THRA, OFD1, COLEC11, PCNA, GBA2, NEFL, KIF1BP, PMPCA, TMEM67, SMOC1, MGP, SMAD3, ALDH18A1, HSPG2, C19orf12, SKI, C10orf2, SATB2, DCHS1, DDX59, PHEX, KIF5A, MYH14, DCAF8, SLC25A46, LARGE1, RAD21, IFIH1, BRCA2, SC5D, TBC1D7, PEX6, EFTUD2, SGCD, MAG, PLEKHM1, TAF6, CDK5, TRAPPC2, MAGEL2, WDR35, RPGRIP1L, CD96, EIF4A3, SOS1, NEB, ECE1, STK11, PTCH2, AMER1, PRG4, NDRG1, CDKN1C, PDE6D, RPL15, COL1A1, COL10A1, PLEKHG5, PIK3CA, PTPN11, LTBP4, ST3GAL5, BMPER, JAG1, HNRNPA1, SBDS, ECEL1, KBTBD13, MIR17HG, HK1, COL2A1, RBPJ, LDB3, ARNT2, ACTA1, VRK1, ACTB, GRIP1, WDR34, PLEC, DSP, TWIST2, SLC2A10, CDKL5, FAM134B, CLCN5, GPC3, ORAI1, ANOS1, PIGT, CLUAP1, PTF1A, SLURP1, FANCC, GATA2, ADCK3, CHRM3, SDHC, CRLF1, MOGS, NTRK1, COL1A2, KRT1, PLOD1, CYP26B1, PLOD3, KDM5C, DLX5, APTX, MMP13, FBXO38, KARS, EBP, LRSAM1, KIT, IMPAD1, KRT16, MYBPC1, TBX22, EVC2, DSE, COG1, ERCC5, NR2F1, FKBP14, DYM, SLC5A7, SCYL1, FGD4, SMC1A, DNM2, B3GAT3, PANK2, STAMBP, ERCC8, IFT140, TDP1, INS, PAM16, PIK3R2, BSCL2, COL11A2, COL7A1, HUWE1, FAM20C, ATL1, SETBP1, UBE2T, DDHD2, KIF14, ALOX12B, PEX1, C15orf41, KIAA0586, COX6A1, EXT1, SLC25A19, G6PC3, SHANK3, LMX1B, HSPB8, BBS7, CNTN1, MAB21L2, RAB33B, BICD2, SLC9A6, ACVR1, RAPSN, UQCC2, SMARCAL1, LTBP2, CLCN1, KATNB1, PTHLH, ATL3, TUBB3, PSAP, ADAMTS2, SMS, METTL23, ZDHHC9, MYH2, FBN1, PABPN1, PHGDH, DCTN1, IHH, HNRNPDL, TMEM165, RAD51C, TTN, RPS19, H19, PTEN, FGFR3, PAX3, SMN1, POLG2, LZTFL1, DST, SOX10, CHRND, CHD7, EHMT1, GSC, AHI1, LRP4, SSR4, ASXL1, FGF14, HDAC8, MYH7, KRT17, ZAK, MMP14, SPECC1L, DPM1, B9D1, PRNP, CENPE, CDH3, RPS6KA3, ATP7A, COL11A1, KIF22, ERCC4, DMD, UPK3A, TP63, NEK1, TBX4, SAMHD1, TCF4, HYLS1, PCNT, GORAB, BBS1, ABHD12, HERC2, FGF16, TBX1, C12orf65, GBA, KCTD1, SGCG, RAB3GAP1, ABCC9, DOK7, RPL26, PLOD2, CLASP1, AUTS2, RET, GRM1, PTH1R, ABCC8, CRB2, POLG, KRT10, MTR, SFTPB, SFTPC, AGPAT2, TAF2, BAG3, IRF6, PEX7, ZSWIM6, FLNB, REEP2, ARSB, SMARCAD1, FUCA1, GDF5, CAV1, PIGV, ZFYVE26, POLR1A, BBIP1, GNB4, DDC, ICK, ZFYVE27, CHRNG, SLC52A3, SRD5A3, TCIRG1, GDF6, ERCC1, NBAS, ACP5, BHLHA9, NKX3-2, GLB1, TBX3, MUC5B, COL5A1, PALB2, FAM111A, BBS4, PRKAR1A, COG6, PHYH, HOXA13, GAN, TRPS1, PAX1, TK2, COL27A1, AKT3, MAN2B1, TNPO3, RAB3GAP2, EFEMP2, SGCB, GTF2H5, MPV17, PLA2G6, ALG2, TRIM32, SLCO2A1, BMP4, ERCC2, COL13A1, REEP1, PDGFRB, MTMR2, XYLT2, WFS1, FAT4, MATN3, KIF7, OCRL, CNTNAP1, COL9A3, ATP6V0A2, TGDS, FBXO7, FGD1, CYP2R1, PTCH1, WNT7A, DVL3, ASNS, PIGO, FBLN5, RBM8A, NIPA1, ABCA12, NKX2-5, CAPN3, TRAPPC11, CDAN1, SERPINB7, COL6A1, TPM3, DNAJB2, GARS, AKT2, XRCC4, GYG1, SPG21, LIFR, CANT1, SPG20, DOCK6, DDX11, TNNI2, GLA, MEGF8, PRX, YARS, FANCG, SALL4, ZIC3, FMR1, MYH8, TGFBR1, EP300, NR5A1, ORC6, SMCHD1, MBTPS2, RTEL1, GDAP1, POMT2, IARS2, ZBTB16, SF3B4, NLRP1, GNPAT, PROKR2, CTDP1, FERMT1, ADCY5, COL9A1, ARHGAP31, VPS33B, LARS, NECTIN4, SLX4, KCNJ11, GJA1, SMARCA2, DYSF, MYH3, WDR81, USP9X, INF2, STUB1, KCNQ1OT1, MECP2, COL17A1, KPTN, TGFB3, TGFB2, CASR, GCK, KIF1B, NRAS, BBS10, IFITM5, SIX1, FOXG1, FBN2, CCND2, MMP2, HYAL1, PRKDC, SHOX, PSAT1, BRCA1, VCP, C5orf42, SERPINF1, ATP1A3, HOXD10, COASY, CHSY1, AKT1, MMP9, LITAF, ITCH, SIL1, SEMA3E, ZDHHC15, TBX15, TFAP2A, NECTIN1, ACVRL1, INPPL1, ERLIN2, GJB1, GUSB, SUMF1, ZNF592, HESX1, PDK3, FLNA, MYH11, BIN1, RAB23, FHL1, GJB2, ATR, HSD17B4, DHCR7, FKBP10, CEP41, LYST, ENTPD1, SPG11, BRF1, KRT6A, NSD1, EXT2, CD59, FXN, INSR, LMBR1, IFT172, KIAA0196, SERPINH1, CEP57, ALX3, FGFR2, PACS1, SPAST, MARS, RPL11, GLUL, PDGFRA, RSPRY1, L1CAM, OPA1, FLNC, ARX, KCNJ2, NKX2-6, KRT9, HOXD13, EXOSC3, IFT80, ASPN, RUNX2, COL4A3BP, STX16, NFIX, BMPR1B, CKAP2L, SLC35D1, PIK3R1, MTRR, PORCN, RYR1, FTO