ABNORMALITY OF THE SKELETAL SYSTEM, HP:0000924

Associated diseases: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), ROBINOW-SORAUF SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, KOWARSKI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, PULMONARY ALVEOLAR MICROLITHIASIS, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, ?CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME, ?NEUTROPHILIA, HEREDITARY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 5, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, RETINITIS PIGMENTOSA 64, CONE-ROD DYSTROPHY 16, AMELOGENESIS IMPERFECTA, TYPE IIA2, NOONAN SYNDROME 5, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MASS SYNDROME, DYSAUTONOMIA, FAMILIAL, HYPER-IGE RECURRENT INFECTION SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, LARON DWARFISM, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, ACHONDROPLASIA, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, SECKEL SYNDROME 7, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, EHLERS-DANLOS SYNDROME, TYPE 3, 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, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, NEUROFIBROMATOSIS, TYPE 1, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, METAPHYSEAL ANADYSPLASIA 2, KAHRIZI SYNDROME, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, NESTOR-GUILLERMO PROGERIA SYNDROME, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, GHOSAL HEMATODIAPHYSEAL SYNDROME, THYROID HORMONE METABOLISM, ABNORMAL, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, ?MECKEL SYNDROME 12, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, TRIGONOCEPHALY 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MUENKE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, CORNELIA DE LANGE SYNDROME 5, ?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, COCOON SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, 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, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, MYOCLONIC-ATONIC EPILEPSY, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, CURRARINO SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, SYMPHALANGISM, PROXIMAL, 1A, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, XERODERMA PIGMENTOSUM, GROUP B, SHAHEEN SYNDROME, 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, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, AMELOGENESIS IMPERFECTA, TYPE IIA1, CILIARY DYSKINESIA, PRIMARY, 25, ?SECKEL SYNDROME 6, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CHAR SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27, NEMALINE MYOPATHY 5, AMISH TYPE, KABUKI SYNDROME 2, PROPIONICACIDEMIA, AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2, EXOSTOSES, MULTIPLE, TYPE 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, HYPOPLASTIC OR APLASTIC TIBIA WITH POLYDACTYLY, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, POLYDACTYLY, PREAXIAL, TYPE IV, AMELOGENESIS IMPERFECTA, TYPE IB, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, CONGENITAL DISORDER OF DEGLYCOSYLATION, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, ?STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, SOTOS SYNDROME 1, RENAL TUBULAR DYSGENESIS, OCCIPITAL HORN SYNDROME, HEMOPHILIA A, FANCONI ANEMIA, COMPLEMENTATION GROUP O, MARTSOLF SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, TRIPHALANGEAL THUMB, TYPE I, POLYDACTYLY, PREAXIAL TYPE II, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, LEGIUS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, 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, CATARACT 5, MULTIPLE TYPES, ECTODERMAL, DYSPLASIA, ANHIDROTIC, LYMPHEDEMA AND IMMUNODEFICIENCY, KOHLSCHUTTER-TONZ SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, NOONAN SYNDROME 10, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CHUDLEY-MCCULLOUGH SYNDROME, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, DOOR SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, OHDO SYNDROME, X-LINKED, FIBROCHONDROGENESIS 1, AMELOGENESIS IMPERFECTA, TYPE IIA5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, BRACHYDACTYLY, TYPE B2, MYOPATHY, MYOFIBRILLAR, 3, BRANCHIOOCULOFACIAL SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, GNATHODIAPHYSEAL DYSPLASIA, LESCH-NYHAN SYNDROME, 3MC SYNDROME 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MECKEL SYNDROME 3, HOLOPROSENCEPHALY-4, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, 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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, CILIARY DYSKINESIA, PRIMARY, 2, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PSEUDOACHONDROPLASIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 13, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), 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, SYMPHALANGISM, PROXIMAL, 1B, 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, FANCONI ANEMIA, COMPLEMENTATION GROUP J, FUCOSIDOSIS, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, MENTAL RETARDATION, X-LINKED 9, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, HARTSFIELD SYNDROME, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, GREENBERG SKELETAL DYSPLASIA, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, PHELAN-MCDERMID SYNDROME, SPONDYLOOCULAR SYNDROME, CENTRONUCLEAR MYOPATHY 5, YUNIS-VARON SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HAND-FOOT-UTERUS SYNDROME, ADAMS-OLIVER SYNDROME 6, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AMELOGENESIS IMPERFECTA, TYPE IIA4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, BETHLEM MYOPATHY 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?DIAMOND-BLACKFAN ANEMIA 11, GERODERMA OSTEODYSPLASTICUM, DIAMOND-BLACKFAN ANEMIA 10, FACTOR VII DEFICIENCY, MICROPHTHALMIA WITH LIMB ANOMALIES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PAPILLORENAL SYNDROME, COLE-CARPENTER SYNDROME 1, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, CILIARY DYSKINESIA, PRIMARY, 10, HEMOPHILIA B, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, OLMSTED SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, PAPILLON-LEFEVRE SYNDROME, JOUBERT SYNDROME 21, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CERVICAL CANCER, SOMATIC, HYPERCHOLANEMIA, FAMILIAL, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ?GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT, MEIER-GORLIN SYNDROME 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, KOSAKI OVERGROWTH SYNDROME, FIBROCHONDROGENESIS 2, OPITZ-KAVEGGIA SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, AGAMMAGLOBULINEMIA 4, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS, MYHRE SYNDROME, LAURIN-SANDROW SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, AICARDI-GOUTIERES SYNDROME 5, BRACHYDACTYLY, TYPE A1, SMITH-MCCORT DYSPLASIA, LADD SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, BONE MARROW FAILURE SYNDROME 2, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, MARSHALL SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, ?HYDROLETHALUS SYNDROME 2, 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, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP N, CYCLIC VOMITING SYNDROME; CVS, 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, ?PONTOCEREBELLAR HYPOPLASIA TYPE 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DYSTONIA 16, XIA-GIBBS SYNDROME, OCULODENTODIGITAL DYSPLASIA, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, COENZYME Q10 DEFICIENCY, PRIMARY, 2, 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, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, MUCOPOLYSACCHARIDOSIS II, ROTHMUND-THOMSON SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XI, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, ACHONDROGENESIS, TYPE IA, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, MENTAL RETARDATION, X-LINKED 94, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BARTTER SYNDROME, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, FUMARASE DEFICIENCY, BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, LI-FRAUMENI SYNDROME, {OSTEOARTHRITIS SUSCEPTIBILITY 2}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?MYOSCLEROSIS, CONGENITAL, DENTAL ANOMALIES AND SHORT STATURE, 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, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, CUTIS LAXA, AUTOSOMAL DOMINANT 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, POIKILODERMA WITH NEUTROPENIA, FANCONI ANEMIA, COMPLEMENTATION GROUP L, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, DENTIN DYSPLASIA, TYPE II, AMELOGENESIS IMPERFECTA, TYPE IV, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, NEMALINE MYOPATHY 10, MENTAL RETARDATION, X-LINKED SYNDROMIC, RAYMOND TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), 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, BEAULIEU-BOYCOTT-INNES SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, 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, GLUTARICACIDURIA, TYPE I, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, VAN BUCHEM DISEASE, HPRT-RELATED GOUT, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), ?STEEL SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, FILIPPI SYNDROME, GAUCHER DISEASE, TYPE IIIC, ACHEIROPODY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, 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, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, BORJESON-FORSSMAN-LEHMANN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16, CARPENTER SYNDROME, HAY-WELLS SYNDROME, ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, LISSENCEPHALY 6, WITH MICROCEPHALY, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, IMMUNODEFICIENCY 12, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, INFANTILE NEUROAXONAL DYSTROPHY 1, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, NANCE-HORAN SYNDROME, ?WEBB-DATTANI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, WIEDEMANN-STEINER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, EIKEN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, SCHNECKENBECKEN DYSPLASIA, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, CILIARY DYSKINESIA, PRIMARY, 14, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE IB, BARTH SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?WINCHESTER SYNDROME, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, DESBUQUOIS DYSPLASIA 1, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, MARSHALL-SMITH SYNDROME, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, STICKLER SYNDROME, TYPE IV, 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, KARTAGENER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, 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), AMELOGENESIS IMPERFECTA, TYPE IH, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, HOLOPROSENCEPHALY-5, 2-METHYLBUTYRYLGLYCINURIA, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, 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, CILIARY DYSKINESIA, PRIMARY, 21, 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, NIJMEGEN BREAKAGE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME, BLAU SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 8, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, MEIER-GORLIN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, ANAUXETIC DYSPLASIA, PYCNODYSOSTOSIS, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, ?OTOFACIOCERVICAL SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BRACHYDACTYLY, TYPE C, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, MENTAL RETARDATION, X-LINKED 12/35, 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, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, ?ABRUZZO-ERICKSON SYNDROME, MULIBREY NANISM, BRACHYDACTYLY, TYPE A1, C, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NOONAN SYNDROME 9, MULTIPLE SYNOSTOSES SYNDROME 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, CAUDAL REGRESSION SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, TARSAL-CARPAL COALITION SYNDROME, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BEHR SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, METACARPAL 4-5 FUSION, MUCOLIPIDOSIS IV, CORTISONE REDUCTASE DEFICIENCY 2, HEIMLER SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, NOONAN SYNDROME 8, COACH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, 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, MECKEL SYNDROME 7, LEOPARD SYNDROME 2, BRITTLE CORNEA SYNDROME 2, PAROXYSMAL EXTREME PAIN DISORDER, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?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, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MENTAL RETARDATION, X-LINKED 19, BRANCHIOOTIC SYNDROME 1, MELEDA DISEASE, ICHTHYOSIS WITH CONFETTI, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, GRACILE BONE DYSPLASIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CONOTRUNCAL HEART MALFORMATIONS, VARIABLE, CONOTRUNCAL HEART MALFORMATIONS, PERSISTENT TRUNCUS ARTERIOSUS, DOUBLE-OUTLET RIGHT VENTRICLE, CONOTRUNCAL ANOMALY FACE SYNDROME, BLOOM SYNDROME, ASPARAGINE SYNTHETASE DEFICIENCY, ESCOBAR SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 9, ADAMS-OLIVER SYNDROME 4, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, BARDET-BIEDL SYNDROME 5, RETT SYNDROME, CONGENITAL VARIANT, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44, MACROCEPHALY/AUTISM SYNDROME, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, BOWEN-CONRADI SYNDROME, SENIOR-LOKEN SYNDROME 9, HYPEREKPLEXIA HEREDITARY, LEGG-CALVE-PERTHES DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 33, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, WARBURG MICRO SYNDROME 3, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, GLASS SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 2, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, 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, FANCONI ANEMIA, COMPLEMENTATION GROUP E, WARBURG MICRO SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 15, WITHOUT TUBULAR AGGREGATES, KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, ?BARDET-BIEDL SYNDROME 19, LOEYS-DIETZ SYNDROME 2, AGNATHIA-OTOCEPHALY COMPLEX, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), IMMUNODEFICIENCY 43, GAUCHER DISEASE, PERINATAL LETHAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, ?POLYDACTYLY, POSTAXIAL, TYPE A6, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, OPITZ GBBB SYNDROME, TYPE I, MECKEL SYNDROME 10, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, HYPERCHOLESTEROLEMIA, FAMILIAL, AUTOSOMAL RECESSIVE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, TERMINAL OSSEOUS DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, TEMPLE-BARAITSER SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, PONTOCEREBELLAR HYPOPLASIA TYPE 4, EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, ?IMMUNODEFICIENCY 13, 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, TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, 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, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, ?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], HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, ?SECKEL SYNDROME 8, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, COWDEN SYNDROME 5, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?MICROPHTHALMIA, SYNDROMIC 13, OROFACIODIGITAL SYNDROME I, ACROMICRIC DYSPLASIA, BRITTLE CORNEA SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, HYPOPHOSPHATEMIC RICKETS, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, FARBER LIPOGRANULOMATOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP T, APERT SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ALSTROM SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ?OROFACIODIGITAL SYNDROME XIV, ADENYLOSUCCINASE DEFICIENCY, MICROCEPHALY 1, PRIMARY, 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, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, PETERS-PLUS SYNDROME, CALCIFICATION OF JOINTS AND ARTERIES, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, FANCONI ANEMIA, COMPLEMENTATION GROUP B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LEBER OPTIC ATROPHY AND DYSTONIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARDET-BIEDL SYNDROME 8, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PERRAULT SYNDROME 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, BRUCK SYNDROME 2, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, PITT-HOPKINS-LIKE SYNDROME 2, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, SYNDACTYLY, TYPE V, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, CAFFEY DISEASE, WIEACKER-WOLFF SYNDROME, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, STICKLER SYNDROME, TYPE II, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, SED CONGENITA, JAWAD SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VI, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, LATHOSTEROLOSIS, SYNDACTYLY, TYPE IV, BARDET-BIEDL SYNDROME 13, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, CRANIOECTODERMAL DYSPLASIA 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LISSENCEPHALY 3, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, KENNY-CAFFEY SYNDROME, TYPE 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, TATTON-BROWN-RAHMAN SYNDROME, MECKEL SYNDROME 5, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, LARYNGOONYCHOCUTANEOUS SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, 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, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, ATELOSTEOGENESIS, TYPE III, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VERHEIJ SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MANNOSIDOSIS, ALPHA-, TYPES I AND II, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, AICARDI-GOUTIERES SYNDROME 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 5, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, DYSKERATOSIS CONGENITA, X-LINKED, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, 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, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, WARSAW BREAKAGE SYNDROME, AROMATASE DEFICIENCY, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, VAN BUCHEM DISEASE, TYPE 2, CRANIOSYNOSTOSIS 4, TREACHER COLLINS SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, BOHRING-OPITZ SYNDROME, MEND SYNDROME, 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, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, 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, ?LACRIMAL DUCT DEFECT, KBG SYNDROME, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPLIT-HAND/FOOT MALFORMATION 6, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, RHEUMATOID ARTHRITIS, CRANIOSYNOSTOSIS 3, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, ?TETRA-AMELIA SYNDROME, JOUBERT SYNDROME 15, FRONTONASAL DYSPLASIA 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL, 3-M SYNDROME 2, AROMATASE EXCESS SYNDROME, METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, JOUBERT SYNDROME 24, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL1], TIMOTHY SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, WARBURG MICRO SYNDROME 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIG, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AGAMMAGLOBULINEMIA 1, BRACHYDACTYLY, TYPE A2, BRACHYDACTYLY, TYPE E, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION, CARPAL TUNNEL SYNDROME, FAMILIAL, 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, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, MYASTHENIC SYNDROME, CONGENITAL, 16, MUCOLIPIDOSIS III ALPHA/BETA, VAN MALDERGEM SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4, SMITH-MAGENIS SYNDROME, MENTAL RETARDATION, X-LINKED 72, 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, OROFACIODIGITAL SYNDROME V, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, IMMUNODEFICIENCY 20, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, GLUTAMINE DEFICIENCY, CONGENITAL, PERRAULT SYNDROME 1, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, D-2-HYDROXYGLUTARIC ACIDURIA, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, SILVER-RUSSELL SYNDROME, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, MUCOPOLYSACCHARIDOSIS IS, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, SALLA DISEASE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, NEU-LAXOVA SYNDROME 2, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, 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, 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, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, COFFIN-SIRIS SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACHONDROGENESIS IB, CHIME SYNDROME, MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES, 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, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, MENTAL RETARDATION, X-LINKED 98, GAUCHER DISEASE, TYPE I, ?OSTEOGENESIS IMPERFECTA, TYPE XII, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, ?ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYASTHENIC SYNDROME, CONGENITAL, 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, MECKEL SYNDROME 1, GELEOPHYSIC DYSPLASIA 1, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, ALAGILLE SYNDROME, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, SPONDYLOPERIPHERAL DYSPLASIA, ?XFE PROGEROID SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, ALAZAMI SYNDROME, 46XY SEX REVERSAL 3, ANDERSEN SYNDROME, IMMUNODEFICIENCY 23, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, MICROPHTHALMIA, SYNDROMIC 14, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, TRABOULSI SYNDROME, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HYPOCHONDROPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2, ?PRUNE BELLY SYNDROME, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYALINE FIBROMATOSIS SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, CILIARY DYSKINESIA, PRIMARY, 26, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, GITELMAN SYNDROME, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, ESTROGEN RESISTANCE, PONTOCEREBELLAR HYPOPLASIA TYPE 2C, KLIPPEL-FEIL SYNDROME 2, CHONDRODYSPLASIA, GREBE TYPE, CILIARY DYSKINESIA, PRIMARY, 17, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, XERODERMA PIGMENTOSUM, GROUP D, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, CHONDROCALCINOSIS 2, BARDET-BIEDL SYNDROME 10, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39, PEUTZ-JEGHERS SYNDROME, BRUCK SYNDROME 1, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, TRICHODONTOOSSEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP G, 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, NOONAN SYNDROME 6, MENTAL RETARDATION, X-LINKED 93, FRASER SYNDROME, ?MENTAL RETARDATION, X-LINKED 91, 3MC SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, DIGEORGE SYNDROME, MEVALONIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, COLD-INDUCED SWEATING SYNDROME 2, LEPRECHAUNISM, BOOMERANG DYSPLASIA, MENTAL RETARDATION, WITH OR WITHOUT NYSTAGMUS, FG SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), 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, ACROCAPITOFEMORAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ?SECKEL SYNDROME 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, OSTEOGENESIS IMPERFECTA, TYPE I, CRANIOECTODERMAL DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, COHEN SYNDROME, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, DUANE-RADIAL RAY SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ANALBUMINEMIA, AMELOGENESIS IMPERFECTA, TYPE IC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, PROUD SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, D-GLYCERIC ACIDURIA, [URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36, PHYTANIC ACID STORAGE DISEASE, BARDET-BIEDL SYNDROME 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, 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, GAUCHER DISEASE, ATYPICAL, C1R/C1S DEFICIENCY, COMBINED, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, PALLISTER-HALL SYNDROME, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50, MOHR-TRANEBJAERG SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, KEPPEN-LUBINSKY SYNDROME, 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, CILIARY DYSKINESIA, PRIMARY, 19, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, STAR SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, 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, CEREBROOCULOFACIOSKELETAL SYNDROME 4, LYSINURIC PROTEIN INTOLERANCE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BARAITSER-WINTER SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CILIARY DYSKINESIA, PRIMARY, 5, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AGAMMAGLOBULINEMIA, X-LINKED 1, JOUBERT SYNDROME 17, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, JALILI SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, DESMOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, GM1-GANGLIOSIDOSIS, TYPE II, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER, AMELOGENESIS IMPERFECTA, TYPE IA, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, URBACH-WIETHE DISEASE, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, ALKAPTONURIA, CILIARY DYSKINESIA, PRIMARY, 24, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, AMELOGENESIS IMPERFECTA, TYPE IIA3, HOLOPROSENCEPHALY-2, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, CILIARY DYSKINESIA, PRIMARY, 15, GLYCOGEN STORAGE DISEASE IA, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, 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, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, CILIARY DYSKINESIA, PRIMARY, 20, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, ?BARDET-BIEDL SYNDROME 18, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CHONDROSARCOMA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, OSTEOGENESIS IMPERFECTA, TYPE XIII, GAUCHER DISEASE, TYPE III, SPASTIC PARAPLEGIA 2, X-LINKED, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, CHILD SYNDROME, JOUBERT SYNDROME 7, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, EHLERS-DANLOS SYNDROME, TYPE IV, SCHAAF-YANG SYNDROME, ADERMATOGLYPHIA, COLD-INDUCED SWEATING SYNDROME 1, AGAMMAGLOBULINEMIA 6, CEREBROOCULOFACIOSKELETAL SYNDROME 2, PARIETAL FORAMINA 1, RITSCHER-SCHINZEL SYNDROME 1, NOONAN SYNDROME 3, WILSON-TURNER SYNDROME, PREMATURE OVARIAN FAILURE 2B, VON WILLIBRAND DISEASE, TYPE 3, ALEXANDER DISEASE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, TREACHER COLLINS SYNDROME 3, SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, JOUBERT SYNDROME 18, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, ?SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 90, SJOGREN-LARSSON SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, TEMTAMY SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, AMELOGENESIS IMPERFECTA, TYPE III, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6, COLE-CARPENTER SYNDROME 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, MOLYBDENUM COFACTOR DEFICIENCY A, AMELOGENESIS IMPERFECTA, TYPE 1E, 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, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CARDIOFACIOCUTANEOUS SYNDROME 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, HAIM-MUNK SYNDROME, NATIVE AMERICAN MYOPATHY, ADAMS-OLIVER SYNDROME 5, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, HELSMOORTEL-VAN DER AA SYNDROME, MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, SECKEL SYNDROME 1, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, LANGER MESOMELIC DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, ?MARDEN-WALKER SYNDROME, FEINGOLD SYNDROME 2, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, SYNDACTYLY, TYPE III, JOUBERT SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE XIV, FANCONI-BICKEL SYNDROME, EXUDATIVE VITREORETINOPATHY 1, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY, ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), COWDEN SYNDROME 6, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?JOUBERT SYNDROME 22, HOLOPROSENCEPHALY-9, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, LIANG DISTAL MYOPATHY, ?N-ACETYLASPARTATE DEFICIENCY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, LEUKODYSTROPHY, HYPOMYELINATING, 6, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 6, ?HIP DYSPLASIA, BEUKES TYPE, WAARDENBURG SYNDROME, TYPE 1, BARDET-BIEDL SYNDROME 17, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CILIARY DYSKINESIA, PRIMARY, 18, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, WAARDENBURG SYNDROME, TYPE 3, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, GABA-TRANSAMINASE DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, MUSCULAR DYSTROPHY, RIGID SPINE, 1, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, ROUSSY-LEVY SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, IMMUNODEFICIENCY, COMMON VARIABLE, 4, ARTHROGRYPOSIS, DISTAL, TYPE 1B, CARTILAGE-HAIR HYPOPLASIA, MICROPHTHALMIA, ISOLATED 4, OSTEOGENESIS IMPERFECTA, TYPE XV, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), DYGGVE-MELCHIOR-CLAUSEN DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, PONTOCEREBELLAR HYPOPLASIA TYPE 2A, BRACHYOLMIA TYPE 3, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, TURNER TYPE, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, COCKAYNE SYNDROME, TYPE A, AMELOGENESIS IMPERFECTA, TYPE IF, ATELOSTEOGENESIS, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, 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, GUTTMACHER SYNDROME, CARNEY COMPLEX VARIANT, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, MEIER-GORLIN SYNDROME 5, ?CRANIOECTODERMAL DYSPLASIA 4, RENAL CYSTS AND DIABETES SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 5D, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, 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, FOLATE MALABSORPTION, HEREDITARY, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, PANCREATIC AND CEREBELLAR AGENESIS, CHONDROSARCOMA, EXTRASKELETAL MYXOID, AICARDI-GOUTIERES SYNDROME 2, 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, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, TRIGONOCEPHALY 2, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A, OPSISMODYSPLASIA, ?FRONTONASAL DYSPLASIA 3, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, SADDAN, CILIARY DYSKINESIA, PRIMARY, 12, RIDDLE SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY, SHWACHMAN-DIAMOND SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLEFT PALATE, ISOLATED, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DUCHENNE MUSCULAR DYSTROPHY, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, MEIER-GORLIN SYNDROME 3, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ?MUCOPOLYSACCHARIDOSIS TYPE IX, ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, AVASCULAR NECROSIS OF THE FEMORAL HEAD, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, RENAL TUBULAR ACIDOSIS, DISTAL, AR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, DESBUQUOIS DYSPLASIA 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, CILIARY DYSKINESIA, PRIMARY, 28, CORNELIA DE LANGE SYNDROME 2, ROBINOW SYNDROME, CHOPS SYNDROME, ?SPONDYLOCOSTAL DYSOSTOSIS 6, POLYCYSTIC LIVER DISEASE, HOLOPROSENCEPHALY-3, SIALIC ACID STORAGE DISORDER, INFANTILE, MUCOPOLYSACCHARIDOSIS, MPS-III-A, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), COMPLEMENT FACTOR I DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, ALLAN-HERNDON-DUDLEY SYNDROME, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, AICARDI-GOUTIERES SYNDROME 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, HEART-HAND SYNDROME, SLOVENIAN TYPE, JOUBERT SYNDROME 20, NEUROCUTANEOUS MELANOSIS, SOMATIC, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 4, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, CILIARY DYSKINESIA, PRIMARY, 27, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, POPLITEAL PTERYGIUM SYNDROME 1, EXUDATIVE VITREORETINOPATHY 4, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), DENT DISEASE, DEJERINE-SOTTAS DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, PARASTREMMATIC DWARFISM, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, AORTIC VALVE DISEASE 2, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, JOHANSON-BLIZZARD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MENTAL RETARDATION, X-LINKED SYNDROMIC 5, GIANT AXONAL NEUROPATHY-1, USHER SYNDROME, TYPE 1G, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, BENT BONE DYSPLASIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 6, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ENCEPHALOPATHY, NEONATAL SEVERE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, FILS SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, LEUKODYSTROPHY, HYPOMYELINATING, 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5, SCLEROSTEOSIS 2, HYPOPHOSPHATEMIC RICKETS, AR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, AXENFELD-RIEGER SYNDROME, TYPE 1, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, BETHLEM MYOPATHY 2, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, MILLER SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 29, VITAMIN D-DEPENDENT RICKETS, TYPE I, AICARDI-GOUTIERES SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, COFFIN-SIRIS SYNDROME 4, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, COENZYME Q10 DEFICIENCY, PRIMARY, 5, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, JOUBERT SYNDROME 14, VICI SYNDROME, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, PELIZAEUS-MERZBACHER DISEASE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, LOEYS-DIETZ SYNDROME 1, CANAVAN DISEASE, SMITH-MCCORT DYSPLASIA 2, NEPHRONOPHTHISIS 15, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, MCKUSICK-KAUFMAN SYNDROME, FAMILIAL MEDITERRANEAN FEVER, AD, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, SMED STRUDWICK TYPE, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE, ?MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE, MICROCEPHALY, AMISH TYPE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, MASA SYNDROME, CRASH SYNDROME, BRACHYDACTYLY, TYPE D, CILIARY DYSKINESIA, PRIMARY, 23, 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, FASCIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC, BROWN-VIALETTO-VAN LAERE SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 6, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MUCOLIPIDOSIS II ALPHA/BETA, CEREBROCOSTOMANDIBULAR SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, MUCOLIPIDOSIS III GAMMA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, VESICOURETERAL REFLUX 8, MYOPATHY, TUBULAR AGGREGATE, 1, CORNELIA DE LANGE SYNDROME 3, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, CODAS SYNDROME, SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 16, COENZYME Q10 DEFICIENCY, PRIMARY, 7, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BURN-MCKEOWN SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, PSEUDOHYPOPARATHYROIDISM IC, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, BARDET-BIEDL SYNDROME 4, DU PAN SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, LIEBENBERG SYNDROME, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, DIGITAL CLUBBING, ISOLATED CONGENITAL, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, LUJAN-FRYNS SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 11, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FUHRMANN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JACKSON-WEISS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, KOOLEN-DE VRIES SYNDROME, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, SOTOS SYNDROME 2, CEREBROTENDINOUS XANTHOMATOSIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, TENORIO SYNDROME, ?OTOFACIOCERVICAL SYNDROME 2, SHPRINTZEN-GOLDBERG SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, TROYER SYNDROME, SECKEL SYNDROME 5, KNIEST DYSPLASIA, RAINE SYNDROME, MENTAL RETARDATION, X-LINKED 21/34, XERODERMA PIGMENTOSUM, TYPE 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, PERLMAN SYNDROME, SECKEL SYNDROME 9, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, {OSTEOARTHRITIS SUSCEPTIBILITY 3}, WOLCOTT-RALLISON SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, WEAVER SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MICROPHTHALMIA WITH COLOBOMA 6, MICROPHTHALMIA WITH COLOBOMA 6, DIGENIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, CRANIOSYNOSTOSIS, TYPE 1, 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, CRANIOSYNOSTOSIS WITH RADIOHUMERAL FUSIONS AND OTHER SKELETAL AND CRANIOFACIAL ANOMALIES, BARDET-BIEDL SYNDROME 9, CILIARY DYSKINESIA, PRIMARY, 22, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MOLYBDENUM COFACTOR DEFICIENCY B, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, CARDIOFACIOCUTANEOUS SYNDROME 3

Associated genes: TCF12, TSC2, IHH, EDNRA, VARS2, GPT2, TBX22, RPL5, GUSB, ENPP1, ADAMTS18, ALG3, EGR2, PTRH2, ALG14, SLC6A8, GNPTAB, SHROOM4, FREM1, AMBN, OCRL, DNAI2, PSPH, HGD, MYO18B, WWOX, GCM2, FSHR, IDS, DAG1, KLHL40, FGF17, MARS2, ZNF141, NR1I3, SPARC, AP1S2, C2CD3, GALNT3, DDHD1, CYP21A2, ALDOA, PRKRA, DDR2, PRPS1, BBS5, SUFU, RAB3GAP2, DVL3, UFSP2, MMP20, CEP290, C1R, FOXC1, CTDP1, NDUFS7, HES7, CPT2, PI4KA, WDR62, TINF2, RNASET2, NR4A3, KIF11, FANCA, EFNB1, FAR1, XRCC4, ADAT3, PTPN22, ADK, IFT122, CUL4B, TNFSF11, HNRNPK, LAMC2, LAMA2, COL5A2, IFT27, TSR2, CCDC65, FOXRED1, SPRTN, SCARF2, HNRNPA2B1, EHHADH, FCGR3A, NLRP5, ERCC6, B4GALT7, FANCL, LIPA, AP3B1, DPM2, TSC1, NDUFS2, CCBE1, PEX14, DNM2, CYBA, KMT2A, TRAIP, LRRC6, NAA10, SBF2, RAI1, DGUOK, SNRPN, VPS37A, MTAP, IDUA, BBS1, SFTPA1, ROBO3, NBN, FAM83H, IGF1, RBCK1, CYB5R3, COL9A1, SHOC2, TNNT3, MTMR14, SLC34A3, MYCN, C12orf57, PITX1, CHUK, FZD4, POC1A, EXOSC8, PTH, BBS2, KAT6B, STAC3, ETFDH, TAZ, TNFRSF11A, PRKCSH, GPHN, KAT6A, NCF1, BBS12, DLAT, ALPL, NDUFB3, UBR1, SC5D, NIN, ANKH, CCDC8, KANSL1, SOX18, LHX4, NDUFAF5, GLI2, FREM2, ARHGAP11A, ITGA6, DHODH, UQCC2, DYRK1A, AIMP1, XPR1, ZC4H2, FOXG1, FAM126A, HYLS1, MFSD2A, SPTLC1, IFT43, CACNA1C, COL6A3, TP53, FCGR2B, PEX10, COG4, CHRNB1, ISPD, DDX59, F2, CEP120, ADSL, DNAAF3, IKBKG, HEXB, NRXN1, NDUFA1, VPS53, MTHFR, VANGL2, ERCC8, SERPINF1, VPS13B, FRZB, STK11, FMR1, WISP3, PIK3CA, BMPER, MIR17HG, CCDC40, NF1, ARNT2, ACTA1, GRIP1, NT5C2, SMARCA4, CBL, NDUFAF6, COQ4, FAM134B, ARMC4, IGF2, CLUAP1, ALDH6A1, NSD1, RAB39B, KDM5C, CRLF1, EBP, TALDO1, COG1, DPYD, TSHB, SPEG, ACVR1, TBX1, CDON, BSCL2, DIS3L2, DDX3X, TNPO3, KIAA0586, PAX2, ZNF469, KCNK9, SLC9A6, LEMD3, KATNB1, CCL2, CNNM2, C21orf59, FHL1, GDF3, FBN1, PEX19, PTS, COL27A1, ELAC2, DNAAF5, FGFR3, COX10, FAH, EMG1, THOC2, MMP14, BAAT, DPM1, B9D1, B3GAT3, ALX1, TAF15, ATP7A, KIF22, ERCC4, UPK3A, TCF4, PGAP3, ABHD12, WDR19, KCTD1, SP110, GATA6, PLOD2, COL18A1, SFTPC, AGPAT2, DACT1, DMP1, PLAU, MPV17, CD96, KISS1, ICK, ACOX1, TBCE, SRD5A3, NDUFA11, GDF6, ERCC1, COL9A2, RSPH9, AGTR1, PHYH, GAN, EDN1, PAX1, PDLIM4, ALG2, SCN8A, AARS, COL13A1, RSPH1, TTPA, BLM, CNTNAP1, ATP6V0A2, TGDS, RAF1, WNT7A, PRSS2, CHD7, MEOX1, SETD5, TNFRSF13C, TRAPPC11, GLUL, DNAL1, LHX3, NDUFAF2, MEGF10, MEGF8, PRX, FANCG, RELN, NCF2, EP300, THRB, GCDH, CLPB, POMT2, NOTCH3, BBS9, NFIX, LRP6, TNFRSF13B, TTR, IL1RAPL1, TTC21B, MC2R, RAB33B, ASPN, GPC6, PSAT1, CFTR, TAF2, HOXD10, SLX4, MMP9, CHRM3, GLE1, NGF, HCCS, CEP41, WRN, SPG11, BRF1, PALB2, NEB, GRHL2, INSR, HYAL1, KIAA0196, SCN9A, SERPINH1, ROGDI, AGXT, COX4I2, STIL, TACO1, UNC119, CLPP, EXOSC3, RARS2, CHKB, NKX2-6, HFE2, TCTN3, SLC34A1, FUZ, ACADS, MID1, NALCN, CIITA, ADGRG1, RBBP8, UBA1, NSDHL, KDM6A, NECTIN4, SLC35D1, RAB7A, JPH1, TRIM32, DOK7, G6PC, WNK1, ASPM, ENAM, TNXB, SPECC1L, MBD5, EVC, F7, SOX2, CALCR, THRA, TNNI2, ASAH1, MGAT2, OPHN1, IFNG, DSP, SMARCE1, AP2S1, TNNT1, AAAS, SGSH, MKKS, HYDIN, TUBGCP4, NKX3-2, GNAS-AS1, ADAMTSL2, DEAF1, SMC3, BANF1, TGFBR1, MGME1, CTNNB1, SMAD4, CTSK, SLC35A3, IGHM, HDAC6, LRP5, LAMA3, PPP2R1A, TUBB, TCTN1, RIPK4, INPPL1, AIP, RAD50, ALX3, BRIP1, GDAP1, ARID1B, BHLHA9, GLI3, IRF5, ARL6, GH1, CHMP1A, SMOC2, EYA1, ZFPM2, MASP1, EIF2B5, PIGL, AP4M1, MAPRE2, RARS, GPSM2, SRCAP, COL6A1, ALG1, FTSJ1, FKTN, SNX14, PDHX, GPX4, RAB40AL, RNF113A, CHAT, SOX11, JAM3, HLA-DQB1, TMEM43, ALB, TAP2, SIGMAR1, ARMC5, TECPR2, LZTFL1, DYX1C1, MFN2, HSF4, MOCS2, CHCHD10, B3GLCT, AP4B1, ICR1, PDE11A, TMEM231, ADGRG6, SMOC1, NEK8, CDT1, TFAP2B, COG6, MBTPS2, TIMM8A, ZNF408, SF3B4, MCOLN1, ACAN, NDE1, HOXB1, MAP2K2, TFAP2A, GORAB, CTSC, IL11RA, C4orf26, CRIPT, HOXA13, MSX2, KIF5C, NRAS, TGFB3, CCDC28B, WDPCP, FA2H, SLC6A17, RB1, GCK, STIM1, CCDC170, ITGA8, TCOF1, DNAH8, ADAR, CBS, GHR, GMPPB, MCPH1, UBE3B, SERPINC1, SLC52A2, BMP2, PLP1, VDR, FIBP, ETFA, HLA-C, CELSR1, C8orf37, MESP2, PSTPIP1, LDLRAP1, FARS2, NME8, CENPJ, CLCF1, PEX1, CYBB, MTFMT, NDUFS1, FBLN1, DSPP, CYP19A1, NR5A1, ITGB4, PIP5K1C, KMT2D, ZBTB24, NDUFB9, PUS1, PGM3, POLR1C, AGA, SLC6A1, PEX16, STRA6, ADA, SMAD3, ALDH18A1, HSPG2, ESR1, HPGD, PDE4D, LARGE1, ATRX, CYP27A1, CTSA, RSPH3, ATP6V1B2, AGT, MAGEL2, RPGRIP1L, IRX5, PRG4, IL21R, BCOR, SEPSECS, RPL15, COL10A1, ABCD1, ST3GAL5, SPAG1, ECM1, FANCD2, VRK1, GBE1, ICOS, TWIST2, QDPR, NDUFAF4, MRPS22, NOTCH2, PARN, GATA2, CYP26B1, PSMB8, DLX5, APTX, GNAQ, CNNM4, MYBPC1, POLR1D, LRSAM1, PFKM, TMEM173, FGD4, IMPAD1, RPS6KA3, RPL26, MOCS1, DLL3, FAM20C, ATL1, SETBP1, KIF14, C15orf41, SLC25A19, LMX1B, TJP2, CNTN1, HNF4A, KIF1B, TBX5, PSAP, ADAMTS2, TUBGCP6, METTL23, ALOX12B, ZBTB42, TERT, ABCG2, H19, PTEN, F13A1, SLC9A3R1, EHMT1, CCNO, COL12A1, CHEK2, FAT4, STAMBP, POLE, SLC1A4, GBA, TSEN34, INS, STRADA, TMEM165, HRAS, KRT10, OCLN, SLC12A3, DHFR, CASK, FUCA1, ZFYVE27, SLC17A3, ACP5, GLB1, SLCO1B1, COL5A1, KISS1R, CDKN2A, TGM1, EIF2B3, SIX3, RNF168, FGD1, POU1F1, USP8, SMARCA2, MIR2861, ZNF592, TUBA1A, NKX2-5, CDAN1, TPM3, GARS, POF1B, PTCH2, CANT1, SPG20, COL11A2, LONP1, CLCN7, THPO, SLC52A3, PYCR1, ZIC3, MYH8, LMOD3, SLC4A1, SLC7A7, PROKR2, MFAP5, PAX8, VPS33B, QARS, PLA2G6, REN, DCPS, MYH3, WDR81, SNRPB, RPS28, VWF, KCNQ1OT1, MECP2, ATPAF2, SECISBP2, ANKLE2, SMARCAL1, BBS10, CCND2, EXT2, IGF1R, NEFL, ZBTB18, AMPD2, TBC1D7, SLC37A4, IFT80, RAG2, TBX15, SNAP29, PAH, CSF3R, FLNA, SMS, PMP22, PDHA1, ANO5, ETFB, CKAP2L, PRKACA, CD19, TRPS1, SLCO2A1, RPGR, MARS, WNT1, MT-ND5, DPAGT1, PNP, HOXD13, ACO2, DNMT3B, NHP2, STX16, EDC3, ATR, SHH, PORCN, CA2, FGFR1, CC2D2A, LBR, KRIT1, CDC6, ZMYND10, IL17RD, B2M, SPINK1, HSPB1, ESCO2, PIGO, FH, FAM58A, TTC8, POR, TGFBR2, P3H1, TGIF1, MAFB, KLK4, UPB1, MYOT, NF2, SCN4A, ALMS1, F9, SLC26A2, SLC39A8, MT-ND6, ALG11, BMPR1A, IL10, KCNJ1, PAPSS2, HSPD1, ABCD4, GAD1, TNNT2, FBXL4, ANKRD11, SYT2, RBM28, SSR4, HNF1B, LTBP3, CHST14, CEP63, CRTAP, CTSD, COLQ, PNKP, FLVCR1, MMACHC, TAPBP, PPIB, GGCX, HOXA11, SH3PXD2B, COX15, PEX13, PEX5, IL1RN, XPC, NPR2, GLYCTK, AHDC1, SDHAF1, EIF2B1, SLC2A1, RAB18, BBS7, SLC46A1, ERCC6L2, PIK3R2, PUF60, CCDC39, PIEZO2, STAT3, SCRIB, ENG, PDSS1, HLA-B, MED25, HMGB3, PCCA, BRWD3, DST, FKRP, PAK3, CTCF, POMK, DHCR24, COX7B, RDH11, FGF10, EXOC8, NOP10, SKI, FSHB, RPS26, TREX1, LRP4, ORC4, POMT1, SEMA3E, SNX10, PCCB, ZIC1, NCF4, SLC2A2, DNASE1, SLC25A1, CDK5RAP2, SPTAN1, SOS1, CYP11B1, TYROBP, DLL4, CD79B, GNAI2, CLP1, SOX9, FGF9, NDUFAF1, TTC37, SACS, PLOD3, KIF2A, CFL2, B9D2, ADAMTS10, RBM10, MRPS16, TCIRG1, AP4E1, FGF23, BRAF, SNAP25, MALT1, AUTS2, GNPTG, UBE2A, BLNK, RSPRY1, TMEM70, GNS, SNIP1, CYP27B1, KLC2, NFKB2, ALDH3A2, KCNJ5, B4GALNT1, CRB2, TNFRSF11B, NAGLU, PEX3, FAM111B, SLC16A2, CLIC2, RNASEH2C, SMC1A, LMNB2, SLC20A2, PRSS1, UMOD, KCNH1, MAF, DHTKD1, TUBB4A, DYNC1H1, SERPINF2, IFT140, SHOXY, SH2B3, AR, CHRNE, SLC12A6, ACTG1, ASXL1, ABCG5, CREBBP, DVL1, PCLO, PEX7, TFR2, CHAMP1, NIPBL, ZSWIM6, CRYAB, COLEC11, HCFC1, CTLA4, KIF1BP, ASPA, MGP, CCDC151, FCGR2A, PLCB4, TSEN2, IFIH1, BRCA2, SQSTM1, TCTN2, PEX6, MUC1, PMM2, GNAI3, CDK5, WDR35, ZEB2, FGF3, PDE6D, LTBP4, JAG1, SBDS, IGSF3, GRID2, COL2A1, RBPJ, SEC24D, NUBPL, EIF2B2, RIN2, STT3A, LZTR1, PGM1, MAPT, KIF5A, AP4S1, MOGS, NTRK1, PLOD1, NFKBIL1, MMP13, NFKBIA, DSE, ERCC5, MT-ND3, SAMHD1, TSHR, DKC1, NDUFV1, ALX4, ABCC8, HUWE1, GNB4, HPRT1, SMCHD1, SDHD, STAT1, SYN1, BICD2, BBS4, RAPSN, MCM9, LTBP2, ROR2, PLK4, HIBCH, PHC1, SETX, SLC24A4, PRSS23, ZDHHC9, DNA2, POLD1, EOGT, ACADSB, VSX1, AMER1, CHRND, SLC13A5, NDUFS3, SMARCB1, AGPS, SDHA, CLDN1, NAT8L, TBX4, PCNT, HERC2, SGCG, THOC6, DRC1, CLASP1, TSEN54, SFTPB, HTRA1, TUFM, SMARCAD1, CHRNG, RAG1, PIGT, ITGB6, TAP1, OTX2, PTHLH, VANGL1, SLC35A2, SOX10, SLC25A22, PLG, MAN2B1, CCDC103, IBA57, NEU1, BMP4, ERCC2, PDGFRB, MTMR2, XYLT2, EIF2B4, HLA-DQA1, PTCH1, ACE, KRAS, RNASEH2B, RIPPLY2, IFT172, EPHX1, MATN3, PRRX1, TRMT10A, DOCK6, CCDC114, AGRN, RAB3GAP1, PDE3A, CCDC22, RSPH4A, IARS2, ZBTB16, NLRP1, KLHL41, SPATA5, IFNGR1, ARHGAP31, TUBA8, LARS, NARS2, SPR, ZIC2, CSPP1, PADI4, CASR, APC, DMD, CHRNA1, PYCR2, UROS, PCDH15, PRKDC, WNT5A, VCP, CFI, MED12, SEC63, RNF135, TOR1A, ASPH, MCM4, ATP7B, B3GALT6, SHANK3, HGSNAT, GJB1, SUMF1, ITCH, BIN1, WDR72, HSD17B4, DHCR7, PTRF, ENTPD1, ATM, IER3IP1, FXN, AKT3, NDUFV2, DIAPH1, FGFR2, UBE3A, RPL11, FAM20A, L1CAM, RET, ARX, KCNJ2, RNF125, SMAD6, ADCY6, BMPR1B, GOSR2, ATIC, TERC, LAMB1, TMEM216, WDR73, NGLY1, EPCAM, GNAS, COL3A1, RNASEH2A, SFTPA2, TP63, MORC2, VMA21, PCYT1A, CYP2U1, SLC17A5, DNAAF1, NOG, KIF7, ITGA3, TBC1D24, MLC1, POMGNT1, ARFGEF2, ARSE, PDGFRA, SBF1, KMT2C, DYNC2H1, CTRC, KL, ERBB3, NDUFAF3, CEP135, COL6A2, P4HB, IGBP1, RNF216, NDUFS6, BUB1B, ABAT, SASS6, NOD2, TAF6, TUBB2B, MPDZ, COMP, MKRN3, T, TRAPPC9, DUSP6, DNMT3A, FAM177A1, SLC12A1, GATA1, MAN1B1, TUBG1, FANCE, AGL, PLEKHM1, TRAF3IP1, TMCO1, ORC6, TPM2, ASNS, SH3TC2, PITX2, PQBP1, AKT1, TPI1, LRPPRC, LARP7, EZH2, TWIST1, DNAH1, EDAR, OBSL1, GNE, DPP6, HAMP, KIAA2022, CTC1, MTM1, GJC2, CHST3, PIGA, SPTLC2, TRIP11, ECE1, SEPN1, PIGN, SEC23A, PTPN11, PEX12, B4GALT1, SPG7, NDUFS4, DNAAF2, EDARADD, GATA4, ZMPSTE24, TMEM38B, VIPAS39, CALR, SYNGAP1, BRAT1, LRP2, GTF2H5, PRDM5, WNT10B, PHGDH, COQ9, ACTB, COL1A2, GBA2, GFAP, D2HGDH, G6PC3, MYH7, ZBTB20, LRBA, BAG3, PROK2, GDF5, DES, KCNT1, DLD, NHS, HSD11B1, IKBKAP, IL2RG, CUL7, KIF1A, LFNG, FIG4, INF2, PLS3, ECEL1, MMP2, ABCC6, NME1, SP7, SGCA, NOTCH1, ERCC3, NAGA, AVP, AFF4, COL17A1, GK, SPINT2, SPRED1, CDH3, RMRP, HARS, GHRHR, GDF1, EPG5, UPF3B, RARB, SOS2, GLRA1, BMP1, MT-TL1, TREM2, DARS2, CTNS, SLC29A3, PTH1R, UBE2T, NDN, OSTM1, TXNL4A, NPHP3, FOXP1, CASC5, FRAS1, TMEM138, HK1, MYH2, CDKL5, ANTXR1, AIRE, NBAS, DLG3, TTI2, PPP2R5D, PAX3, RFT1, TGFB1, SOST, LMNA, EIF2AK3, F8, DNMT1, WDR60, OFD1, PCNA, GHSR, IFITM5, TMEM67, NECTIN1, C19orf12, SURF1, C10orf2, SATB2, DCHS1, PHEX, PAFAH1B1, DCAF8, SALL1, RAD21, CDK6, EFTUD2, KCNJ6, TRAPPC2, FLRT3, DNAH5, RECQL4, EIF4A3, NADK2, IGHMBP2, DPYS, SALL4, ARSB, MMP1, FANCM, PLEKHG5, DNAI1, MKS1, ZDHHC15, FKBP10, PLEC, SLC2A10, CLCN5, FERMT3, PTF1A, ACVRL1, EDA, GFM1, CEP152, ORAI1, SLURP1, SLC25A46, DNM1L, EEF1A2, RUNX2, FKBP14, DYM, GSC, SLC22A4, WAS, ACD, PAM16, TMEM237, COL7A1, SLCO1B3, SMPD1, HESX1, HSD17B10, PTDSS1, EXT1, ABCG8, ZNF335, TBC1D20, MAB21L2, GNA11, USP9X, SLC34A2, CEP164, BRCA1, TUBB3, MNX1, ATP5A1, SCN1A, HNRNPDL, RAD51C, TTN, RPS19, TRPV3, TRPV4, FANCB, AHI1, LIAS, HDAC8, UBB, STUB1, MT-ND4, WNT3, CENPE, ERF, COL11A1, NEK1, CD244, FGF16, PPT1, ABCC9, TRH, PIGV, RIT1, F10, ADNP, PGAP2, USB1, IRF6, MPLKIP, TRIM37, FLNB, ALG13, PDGFB, MAP2K1, CARS2, MPC1, POLR1A, BBIP1, COL1A1, PRKAR1A, ORC1, AMELX, NT5E, BCAP31, TBX3, MUC5B, FAM111A, MCIDAS, STT3B, GALNS, BTK, PNPO, SGCB, EFEMP2, MEFV, XYLT1, CECR1, WFS1, EMD, COL9A3, GRIA3, SPAST, CYP2R1, HEPACAM, FBLN5, RBM8A, ABCA12, CAPN3, GCH1, TTC7A, LINS1, RYR1, LTC4S, EVC2, RTN2, LIFR, DDX11, NSUN2, HLA-DRB1, ELOVL4, FANCC, MPZ, SLC35C1, RTTN, REEP1, RNU4ATAC, GPC3, KCNJ11, GJA1, INPP5E, ALS2, MVK, KPTN, TGFB2, LAMB3, TRIM2, SIX1, FBN2, PEX26, SHOX, C5orf42, MED17, SGCD, CHSY1, ATL3, CDKN1C, USH1G, DLX3, SIL1, MUSK, WDR34, ERLIN2, NR2F1, COL4A3BP, XPA, HSPB8, MYH11, RAB23, GJB2, PEX2, ZAK, PHF6, SLC39A13, KCTD7, LMBR1, CEP57, FLVCR2, ANTXR2, GNPAT, RTEL1, OPA1, TBX6, TBXAS1, DOLK, ITGA7, MPDU1, MT-ND1, B4GAT1, PIK3R1, HFE, FTO