ABNORMALITY OF HEAD OR NECK, HP:0000152

Associated diseases: ATROPHODERMA VERMICULATUM, ROBINOW-SORAUF SYNDROME, BRACHYDACTYLY, TYPE E, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MICROPHTHALMIA, ISOLATED 3, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, ?CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME, ?NEUTROPHILIA, HEREDITARY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, AMELOGENESIS IMPERFECTA, TYPE IIA2, NOONAN SYNDROME 5, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, DYSAUTONOMIA, FAMILIAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LARON DWARFISM, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, RUIJS-AALFS SYNDROME, CATEL-MANZKE SYNDROME, CARPENTER SYNDROME 2, ARTHROGRYPOSIS, DISTAL, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, VAN DER WOUDE SYNDROME 2, 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, CK SYNDROME, MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, FLOATING-HARBOR SYNDROME, PRADER-WILLI SYNDROME, {PARKINSON DISEASE 8}, MUCOPOLYSACCHARIDOSIS TYPE IIID, ACROMELIC FRONTONASAL DYSOSTOSIS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, NEUROFIBROMATOSIS, TYPE 1, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, 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, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, ?MECKEL SYNDROME 12, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MUENKE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CORNELIA DE LANGE SYNDROME 5, ?AL-GAZALI-BAKALINOVA SYNDROME, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRAGILE X SYNDROME, COCOON SYNDROME, 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, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, JOUBERT SYNDROME 23, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, ?FIBROMATOSIS, GINGIVAL, 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, APHAKIA, CONGENITAL PRIMARY, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, NOONAN SYNDROME 7, DYSTONIA 26, MYOCLONIC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, 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, AMELOGENESIS IMPERFECTA, TYPE IIA1, CILIARY DYSKINESIA, PRIMARY, 25, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, WAARDENBURG SYNDROME, TYPE 4B, ?SECKEL SYNDROME 6, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CHAR SYNDROME, RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27, STORMORKEN SYNDROME, KABUKI SYNDROME 2, AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, AMELOGENESIS IMPERFECTA, TYPE IB, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, PERIODIC FEVER, FAMILIAL, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, SOTOS SYNDROME 1, OCCIPITAL HORN SYNDROME, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, MARTSOLF SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, 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, PERRAULT SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, PROLIDASE DEFICIENCY, NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS, COMBINED HYPERLIPIDEMIA, FAMILIAL, MUSCULAR DYSTROPHY, CONGENITAL, AICARDI-GOUTIERES SYNDROME 4, SPINOCEREBELLAR ATAXIA 35, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, KOHLSCHUTTER-TONZ SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, OROFACIAL CLEFT 11, CHUDLEY-MCCULLOUGH SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, DOOR SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ?HYDROLETHALUS SYNDROME 2, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, OHDO SYNDROME, X-LINKED, FIBROCHONDROGENESIS 1, AMELOGENESIS IMPERFECTA, TYPE IIA5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, NANOPHTHALMOS 2, IRIDOGONIODYSGENESIS, TYPE 2, BRANCHIOOCULOFACIAL SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 3, 3MC SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, JOUBERT SYNDROME 6, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, FG SYNDROME 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, FAILURE OF TOOTH ERUPTION, PRIMARY, SJOGREN-LARSSON SYNDROME, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 13, COWDEN SYNDROME 5, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OROFACIAL CLEFT 7, PARTINGTON SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 1, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, SC PHOCOMELIA SYNDROME, PARIETAL FORAMINA 2, BETA-UREIDOPROPIONASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), FANCONI ANEMIA, COMPLEMENTATION GROUP J, FUCOSIDOSIS, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, 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, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, GREENBERG SKELETAL DYSPLASIA, VAN DER WOUDE SYNDROME, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, PHELAN-MCDERMID SYNDROME, SPONDYLOOCULAR SYNDROME, CENTRONUCLEAR MYOPATHY 5, YUNIS-VARON SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ADAMS-OLIVER SYNDROME 6, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AMELOGENESIS IMPERFECTA, TYPE IIA4, BETHLEM MYOPATHY 1, ?DIAMOND-BLACKFAN ANEMIA 11, GERODERMA OSTEODYSPLASTICUM, DIAMOND-BLACKFAN ANEMIA 10, FACTOR VII DEFICIENCY, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, MICROPHTHALMIA WITH LIMB ANOMALIES, PAPILLORENAL SYNDROME, COLE-CARPENTER SYNDROME 1, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, XERODERMA PIGMENTOSUM, GROUP C, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, CILIARY DYSKINESIA, PRIMARY, 10, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, PAPILLON-LEFEVRE SYNDROME, JOUBERT SYNDROME 21, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, MEIER-GORLIN SYNDROME 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, 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, NASOPHARYNGEAL CARCINOMA, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MANITOBA OCULOTRICHOANAL SYNDROME, MYHRE SYNDROME, LAURIN-SANDROW SYNDROME, RETINITIS PIGMENTOSA 18, CUTIS LAXA, AD, SMITH-MCCORT DYSPLASIA, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, MENTAL RETARDATION, X-LINKED 94, RUBINSTEIN-TAYBI SYNDROME 2, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, BONE MARROW FAILURE SYNDROME 2, WAARDENBURG SYNDROME, TYPE 4C, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, THROMBOCYTOPENIA 5, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?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, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, CHONDRODYSPLASIA, BLOMSTRAND TYPE, GALLOWAY-MOWAT SYNDROME, PRIMROSE SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP N, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, CYCLIC VOMITING SYNDROME; CVS, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE VIII, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MENTAL RETARDATION, X-LINKED 99, JOUBERT SYNDROME 16, LANGER MESOMELIC DYSPLASIA, RETT SYNDROME, CONGENITAL VARIANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ?PONTOCEREBELLAR HYPOPLASIA TYPE 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, DYSTONIA 16, XIA-GIBBS SYNDROME, OCULODENTODIGITAL DYSPLASIA, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, COENZYME Q10 DEFICIENCY, PRIMARY, 2, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, ?MECKEL SYNDROME 9, ADAMS-OLIVER SYNDROME 3, JOUBERT SYNDROME 2, MUCOPOLYSACCHARIDOSIS II, ROTHMUND-THOMSON SYNDROME, DYSTONIA-12, OSTEOGENESIS IMPERFECTA, TYPE XI, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, ACHONDROGENESIS, TYPE IA, BAMFORTH-LAZARUS SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, FUMARASE DEFICIENCY, BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?MYOSCLEROSIS, CONGENITAL, MICROPHTHALMIA WITH COLOBOMA 3, DENTAL ANOMALIES AND SHORT STATURE, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, CRANIOECTODERMAL DYSPLASIA 3, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, POIKILODERMA WITH NEUTROPENIA, FANCONI ANEMIA, COMPLEMENTATION GROUP L, TATTON-BROWN-RAHMAN SYNDROME, DENTIN DYSPLASIA, TYPE II, AMELOGENESIS IMPERFECTA, TYPE IV, RENPENNING SYNDROME, MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS, NEMALINE MYOPATHY 10, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, 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, GM1-GANGLIOSIDOSIS, TYPE II, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, AGAMMAGLOBULINEMIA 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, HAMAMY SYNDROME, BEAULIEU-BOYCOTT-INNES SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, SUPRANUCLEAR PALSY, PROGRESSIVE, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, CILIARY DYSKINESIA, PRIMARY, 30, SECKEL SYNDROME 2, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, GLUTARICACIDURIA, TYPE I, ACRODERMATITIS ENTEROPATHICA, MYASTHENIC SYNDROME, CONGENITAL, 19, VAN BUCHEM DISEASE, ABLEPHARON-MACROSTOMIA SYNDROME, BRACHIOOTIC SYNDROME 3, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), ?REYNOLDS SYNDROME, ?STEEL SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, FILIPPI SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, NEMALINE MYOPATHY 6, AUTOSOMAL DOMINANT, HERMANSKY-PUDLAK SYNDROME 6, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, ACATALASEMIA, 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, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, NAXOS DISEASE, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FRANK-TER HAAR SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, HYPOTRICHOSIS 4, BORJESON-FORSSMAN-LEHMANN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16, CARPENTER SYNDROME, HAY-WELLS SYNDROME, ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, LISSENCEPHALY 6, WITH MICROCEPHALY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, INFANTILE NEUROAXONAL DYSTROPHY 1, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, GLYCOGEN STORAGE DISEASE IA, NANCE-HORAN SYNDROME, ?WEBB-DATTANI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, SCHNECKENBECKEN DYSPLASIA, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, 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, NORRIE DISEASE, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?WINCHESTER SYNDROME, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, CHERUBISM, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, BAINBRIDGE-ROPERS SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, DESBUQUOIS DYSPLASIA 1, DYSTONIA 24, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, KANZAKI DISEASE, MARSHALL-SMITH SYNDROME, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, KARTAGENER SYNDROME, ?CRANIOECTODERMAL DYSPLASIA 4, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), AMELOGENESIS IMPERFECTA, TYPE IH, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HOLOPROSENCEPHALY-5, 2-METHYLBUTYRYLGLYCINURIA, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC, 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, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCONI ANEMIA, COMPLEMENTATION GROUP P, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 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, TREACHER COLLINS SYNDROME 2, MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME, SPINOCEREBELLAR ATAXIA 14, 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, ANAUXETIC DYSPLASIA, PYCNODYSOSTOSIS, ?COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, SPINAL MUSCULAR ATROPHY-2, ?OTOFACIOCERVICAL SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, CEREBROTENDINOUS XANTHOMATOSIS, WOODHOUSE-SAKATI SYNDROME, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, SHPRINTZEN-GOLDBERG SYNDROME, OROFACIODIGITAL SYNDROME IV, RAINE SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ?ABRUZZO-ERICKSON SYNDROME, MULIBREY NANISM, HOLOPROSENCEPHALY-4, NOONAN SYNDROME 9, MULTIPLE SYNOSTOSES SYNDROME 2, TOOTH AGENESIS, SELECTIVE, 7, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, SEBASTIAN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, FRAXE, LEUKODYSTROPHY, HYPOMYELINATING, 2, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS, MUCOLIPIDOSIS IV, WHITE-SUTTON SYNDROME, HEIMLER SYNDROME 1, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, NOONAN SYNDROME 8, MEDNIK SYNDROME, COACH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, PEROXISOME BIOGENESIS DISORDER 3B, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, PRIMARY LATERAL SCLEROSIS, JUVENILE, MECKEL SYNDROME 7, LEOPARD SYNDROME 2, NOONAN SYNDROME 10, PAROXYSMAL EXTREME PAIN DISORDER, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, OSTEOGENESIS IMPERFECTA, TYPE VII, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ELLIS-VAN CREVELD SYNDROME, NEU-LAXOVA SYNDROME 1, COLOBOMA, OCULAR, OCULOAURICULAR SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MENTAL RETARDATION, X-LINKED 19, BRANCHIOOTIC SYNDROME 1, MELEDA DISEASE, 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, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, ESCOBAR SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 9, LEBER CONGENITAL AMAUROSIS 10, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, ?CANDIDIASIS, FAMILIAL, 8, BOWEN-CONRADI SYNDROME, NEUROFIBROMATOSIS, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, GRAY PLATELET SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 33, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, DIAMOND-BLACKFAN ANEMIA 5, GLASS SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 10, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, WAARDENBURG SYNDROME, TYPE 4A, 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, KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, ?BARDET-BIEDL SYNDROME 19, LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, AGNATHIA-OTOCEPHALY COMPLEX, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GAUCHER DISEASE, PERINATAL LETHAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, FILS SYNDROME, OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MECKEL SYNDROME 10, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, BARTH SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, TERMINAL OSSEOUS DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, TEMPLE-BARAITSER SYNDROME, 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, BLEEDING DISORDER, PLATELET-TYPE, 17, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AL-RAQAD SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, OSTEOGENESIS IMPERFECTA, TYPE IX, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, ?DYSTONIA, JUVENILE-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ODONTOONYCHODERMAL DYSPLASIA, RITSCHER-SCHINZEL SYNDROME 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, COWDEN SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PACHYONYCHIA CONGENITA 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, MAY-HEGGLIN ANOMALY, ?SECKEL SYNDROME 8, AMINOACYLASE 1 DEFICIENCY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, D-2-HYDROXYGLUTARIC ACIDURIA, 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, ?SNEDDON SYNDROME, SPINOCEREBELLAR ATAXIA 12, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, FARBER LIPOGRANULOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), POLYCYSTIC KIDNEY AND HEPATIC DISEASE, APERT SYNDROME, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, IMMUNODEFICIENCY 9, 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, ATELEIOTIC DWARFISM, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, ZIMMERMANN-LABAND SYNDROME 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, ?ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, 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, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARDET-BIEDL SYNDROME 8, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, ?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, BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES, PERRAULT SYNDROME 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, BRUCK SYNDROME 2, AURAL ATRESIA, CONGENITAL, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, PITT-HOPKINS-LIKE SYNDROME 2, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA 1, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, ?MICROHYDRANENCEPHALY, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, OSTEOGENESIS IMPERFECTA, TYPE II, VAN MALDERGEM SYNDROME 1, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, THYROID DYSHORMONOGENESIS 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, CAFFEY DISEASE, PACHYONYCHIA CONGENITA 2, WIEACKER-WOLFF SYNDROME, LOWE SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, STICKLER SYNDROME, TYPE II, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 3, SED CONGENITA, JAWAD SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, LATHOSTEROLOSIS, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, 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, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, KENNY-CAFFEY SYNDROME, TYPE 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, 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, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, TIETZ ALBINISM-DEAFNESS SYNDROME, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, KABUKI SYNDROME 1, LADD SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, ATELOSTEOGENESIS, TYPE III, HYPOTRICHOSIS 6, VERHEIJ SYNDROME, FACTOR V DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MANNOSIDOSIS, ALPHA-, TYPES I AND II, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ARTHROGRYPOSIS, DISTAL, TYPE 5, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, 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, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, MANDIBULOACRAL DYSPLASIA, RENAL TUBULAR DYSGENESIS, WARSAW BREAKAGE SYNDROME, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, VAN BUCHEM DISEASE, TYPE 2, CRANIOSYNOSTOSIS 4, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, TREACHER COLLINS SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, BOHRING-OPITZ SYNDROME, MEND SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINAL MUSCULAR ATROPHY-4, 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, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SPEECH-LANGUAGE DISORDER-1, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CRANIOSYNOSTOSIS 3, DERMATOPATHIA PIGMENTOSA RETICULARIS, ?TETRA-AMELIA SYNDROME, TYLOSIS WITH ESOPHAGEAL CANCER, FRONTONASAL DYSPLASIA 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, HEIMLER SYNDROME 2, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, 3-M SYNDROME 2, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, PELGER-HUET ANOMALY, KLEEFSTRA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), WOOLLY HAIR, AUTOSOMAL RECESSIVE 2 WITH OR WITHOUT HYPOTRICHOSIS, HYPOTRICHOSIS 7, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, 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, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION, [BONE MINERAL DENSITY VARIABILITY 1], HYPOTRICHOSIS 12, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, MEIER-GORLIN SYNDROME 2, 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, XERODERMA PIGMENTOSUM, VARIANT TYPE, 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, TARP SYNDROME, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ROIFMAN SYNDROME, UROFACIAL SYNDROME 1, OROFACIODIGITAL SYNDROME V, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, IMMUNODEFICIENCY 20, {OROFACIAL CLEFT 6}, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, GLUTAMINE DEFICIENCY, CONGENITAL, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, MENTAL RETARDATION, X-LINKED 12/35, MYOTONIC DYSTROPHY 1, SILVER-RUSSELL SYNDROME, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, HOLOPROSENCEPHALY-7, MACHADO-JOSEPH DISEASE, DEAFNESS, AUTOSOMAL DOMINANT 23, MUCOPOLYSACCHARIDOSIS IS, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, SALLA DISEASE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, DUANE-RADIAL RAY SYNDROME, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, MITOCHONDRIAL MYOPATHY WITH DIABETES, 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, PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, COFFIN-SIRIS SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MICROPHTHALMIA, ISOLATED 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ACHONDROGENESIS IB, 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, PAROXYSMAL NONKINESIGENIC DYSKINESIA, MENTAL RETARDATION, X-LINKED 98, GAUCHER DISEASE, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 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, LEUKODYSTROPHY, HYPOMYELINATING, 11, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, MECKEL SYNDROME 1, GELEOPHYSIC DYSPLASIA 1, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, KINDLER SYNDROME, ALAGILLE SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, ?XFE PROGEROID SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, DYSTONIA 25, ALAZAMI SYNDROME, ANDERSEN SYNDROME, IMMUNODEFICIENCY 23, MICROPHTHALMIA, ISOLATED 8, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, 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, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, HYALINE FIBROMATOSIS SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, CILIARY DYSKINESIA, PRIMARY, 26, MICROPHTHALMIA, ISOLATED 7, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, PONTOCEREBELLAR HYPOPLASIA TYPE 2C, KLIPPEL-FEIL SYNDROME 2, CILIARY DYSKINESIA, PRIMARY, 17, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, XERODERMA PIGMENTOSUM, GROUP D, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, HERMANSKY-PUDLAK SYNDROME 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, OROFACIAL CLEFT 10, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39, PEUTZ-JEGHERS SYNDROME, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, TRICHODONTOOSSEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, FANCONI ANEMIA, COMPLEMENTATION GROUP G, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, KAUFMAN OCULOCEREBROFACIAL SYNDROME, NOONAN SYNDROME 6, MENTAL RETARDATION, X-LINKED 93, LEBER CONGENITAL AMAUROSIS 9, FRASER SYNDROME, MICROPHTHALMIA, SYNDROMIC 14, ?MENTAL RETARDATION, X-LINKED 91, 3MC SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, WHITE SPONGE NEVUS 1, MEVALONIC ACIDURIA, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, COLD-INDUCED SWEATING SYNDROME 2, LEPRECHAUNISM, BOOMERANG DYSPLASIA, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, MENTAL RETARDATION, WITH OR WITHOUT NYSTAGMUS, FG SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AURICULOCONDYLAR SYNDROME 2, LIMB-MAMMARY SYNDROME, MECKEL SYNDROME 6, ACROCAPITOFEMORAL DYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE I, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, CRANIOECTODERMAL DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, TOOTH AGENESIS, SELECTIVE, 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, COHEN SYNDROME, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, EPISODIC KINESIGENIC DYSKINESIA 1, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, 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, CLEFT PALATE WITH ANKYLOGLOSSIA, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, AMELOGENESIS IMPERFECTA, TYPE IC, HARTNUP DISORDER, PROUD SYNDROME, ALAGILLE SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36, PHYTANIC ACID STORAGE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?MECKEL SYNDROME 8, RENAL ADYSPLASIA, C1R/C1S DEFICIENCY, COMBINED, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, PALLISTER-HALL SYNDROME, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), EXUDATIVE VITREORETINOPATHY 2, X-LINKED, RING DERMOID OF CORNEA, KEPPEN-LUBINSKY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ?FACIAL CLEFTING, OBLIQUE, 1, CILIARY DYSKINESIA, PRIMARY, 19, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, STAR SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, SPINOCEREBELLAR ATAXIA 5, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FAZIO-LONDE DISEASE, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CEREBROOCULOFACIOSKELETAL SYNDROME 4, 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, DYSTONIA 6, TORSION, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CILIARY DYSKINESIA, PRIMARY, 5, CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, APLASIA OF LACRIMAL AND SALIVARY GLANDS, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, JALILI SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, DESMOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, PERRY SYNDROME, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, SPINOCEREBELLAR ATAXIA 36, AMELOGENESIS IMPERFECTA, TYPE IA, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CILIARY DYSKINESIA, PRIMARY, 24, AMELOGENESIS IMPERFECTA, TYPE IIA3, HOLOPROSENCEPHALY-2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, CILIARY DYSKINESIA, PRIMARY, 15, 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, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, CILIARY DYSKINESIA, PRIMARY, 20, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, CHANARIN-DORFMAN SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, OSTEOGENESIS IMPERFECTA, TYPE XIII, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, PERRAULT SYNDROME 5, CHILD SYNDROME, DARIER DISEASE, JOUBERT SYNDROME 7, PCWH SYNDROME, WIEDEMANN-STEINER SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, EHLERS-DANLOS SYNDROME, TYPE IV, SCHAAF-YANG SYNDROME, COLD-INDUCED SWEATING SYNDROME 1, AGAMMAGLOBULINEMIA 6, CEREBROOCULOFACIOSKELETAL SYNDROME 2, PARIETAL FORAMINA 1, HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 3, WILSON-TURNER SYNDROME, PREMATURE OVARIAN FAILURE 2B, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ALEXANDER DISEASE, CATARACT 21, MULTIPLE TYPES, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, TREACHER COLLINS SYNDROME 3, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, OPITZ GBBB SYNDROME, TYPE I, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MENTAL RETARDATION, X-LINKED 90, NANOPHTHALMOS 4, SPINAL MUSCULAR ATROPHY-1, CILIARY DYSKINESIA, PRIMARY, 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, TEMTAMY SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, AMELOGENESIS IMPERFECTA, TYPE III, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, ?AGAMMAGLOBULINEMIA 5, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA IIB, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, COLE-CARPENTER SYNDROME 2, DYSTONIA-11, MYOCLONIC, CANDIDIASIS, FAMILIAL, 9, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MOLYBDENUM COFACTOR DEFICIENCY A, AMELOGENESIS IMPERFECTA, TYPE 1E, PERIODONTITIS 1, JUVENILE, ?RETINAL ARTERIES, TORTUOSITY OF, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEUTROPENIA, CYCLIC, CARDIOFACIOCUTANEOUS SYNDROME 4, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, HAIM-MUNK SYNDROME, NATIVE AMERICAN MYOPATHY, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, HELSMOORTEL-VAN DER AA SYNDROME, MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, SECKEL SYNDROME 1, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 15, ?SECKEL SYNDROME 4, ?MARDEN-WALKER SYNDROME, FEINGOLD SYNDROME 2, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), COWDEN SYNDROME 6, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 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, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ARTS SYNDROME, HOLOPROSENCEPHALY-9, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LIANG DISTAL MYOPATHY, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, LEUKODYSTROPHY, HYPOMYELINATING, 6, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 6, WAARDENBURG SYNDROME, TYPE 1, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CILIARY DYSKINESIA, PRIMARY, 18, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, WAARDENBURG SYNDROME, TYPE 3, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME, 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, CORPUS CALLOSUM AGENESIS, MUSCULAR DYSTROPHY, RIGID SPINE, 1, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, 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, SPLIT-HAND/FOOT MALFORMATION 1, IMMUNODEFICIENCY, COMMON VARIABLE, 4, CARTILAGE-HAIR HYPOPLASIA, MICROPHTHALMIA, ISOLATED 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, CATARACT 9, MULTIPLE TYPES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, DYGGVE-MELCHIOR-CLAUSEN DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, PONTOCEREBELLAR HYPOPLASIA TYPE 2A, SCHOPF-SCHULZ-PASSARGE SYNDROME, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, BRACHYOLMIA TYPE 3, MENTAL RETARDATION, X-LINKED SYNDROMIC, TURNER TYPE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, COCKAYNE SYNDROME, TYPE A, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, 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, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MECKEL SYNDROME 2, WEAVER SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, WAARDENBURG SYNDROME, TYPE 2D, POLYMORPHOUS CORNEAL DYSTROPHY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, MUCOLIPIDOSIS II ALPHA/BETA, SCALP-EAR-NIPPLE SYNDROME, CARNEY COMPLEX VARIANT, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4, MEIER-GORLIN SYNDROME 5, EHLERS-DANLOS SYNDROME, TYPE VI, GRISCELLI SYNDROME, TYPE 3, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ARTHROGRYPOSIS, DISTAL, TYPE 5D, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, MYOPATHY, SPHEROID BODY, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, PARKINSON DISEASE 20, EARLY-ONSET, MECKEL SYNDROME 11, FOLATE MALABSORPTION, HEREDITARY, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, PANCREATIC AND CEREBELLAR AGENESIS, TOOTH AGENESIS, SELECTIVE, 4, AICARDI-GOUTIERES SYNDROME 2, CHOANAL ATRESIA AND LYMPHEDEMA, KENNY-CAFFEY SYNDROME, TYPE 1, JOUBERT SYNDROME 5, 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, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A, OPSISMODYSPLASIA, ?FRONTONASAL DYSPLASIA 3, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, SADDAN, CILIARY DYSKINESIA, PRIMARY, 12, RIDDLE SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, CLEFT PALATE, ISOLATED, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, DIGEORGE SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 12, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, MEIER-GORLIN SYNDROME 3, ?MUCOPOLYSACCHARIDOSIS TYPE IX, ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, MECKEL SYNDROME 3, DESBUQUOIS DYSPLASIA 2, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, CILIARY DYSKINESIA, PRIMARY, 28, OROFACIAL CLEFT 5, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, ROBINOW SYNDROME, CHOPS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTRICHOSIS 8, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, 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), OLIGODONTIA-COLORECTAL CANCER SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, ALLAN-HERNDON-DUDLEY SYNDROME, AICARDI-GOUTIERES SYNDROME 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, NEUROCUTANEOUS MELANOSIS, SOMATIC, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, TRANSCOBALAMIN II DEFICIENCY, BRANCHIOOTORENAL SYNDROME 2, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, REVESZ SYNDROME, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, CILIARY DYSKINESIA, PRIMARY, 27, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, POPLITEAL PTERYGIUM SYNDROME 1, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MICROPHTHALMIA, ISOLATED 5, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE, STICKLER SYNDROME, TYPE IV, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, PARASTREMMATIC DWARFISM, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, PACHYONYCHIA CONGENITA 3, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, MYOPATHY, DISTAL, TATEYAMA TYPE, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, JOHANSON-BLIZZARD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9, 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, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, BENT BONE DYSPLASIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, CILIARY DYSKINESIA, PRIMARY, 21, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE, ?THROMBOXANE SYNTHASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ENCEPHALOPATHY, NEONATAL SEVERE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, SCLEROSTEOSIS 2, HYPOPHOSPHATEMIC RICKETS, AR, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, AXENFELD-RIEGER SYNDROME, TYPE 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, CHIME SYNDROME, 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, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, 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, COFFIN-SIRIS SYNDROME 2, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, PELIZAEUS-MERZBACHER DISEASE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 21, CANAVAN DISEASE, SMITH-MCCORT DYSPLASIA 2, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, SMED STRUDWICK TYPE, WATSON SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, FOVEAL HYPOPLASIA 2, WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS, MICROPHTHALMIA, ISOLATED 6, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE, HYPOTRICHOSIS 11, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ARTERIAL TORTUOSITY SYNDROME, ?JOUBERT SYNDROME 22, ?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, 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, MANNOSIDOSIS, BETA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CEREBROCOSTOMANDIBULAR SYNDROME, MUCOLIPIDOSIS III GAMMA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, MYOPATHY, MYOFIBRILLAR, 2, HERMANSKY-PUDLAK SYNDROME 1, CODAS SYNDROME, CILIARY DYSKINESIA, PRIMARY, 16, AGAMMAGLOBULINEMIA, X-LINKED 1, CARDIOFACIOCUTANEOUS SYNDROME 2, TRIGONOCEPHALY 1, BURN-MCKEOWN SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, PSEUDOHYPOPARATHYROIDISM IC, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, CORNEAL OPACIFICATION AND OTHER OCULAR ANOMALIES, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, BARDET-BIEDL SYNDROME 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, SULFITE OXIDASE DEFICIENCY, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, LUJAN-FRYNS SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 11, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEU-LAXOVA SYNDROME 2, JACKSON-WEISS SYNDROME, MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, VITREORETINOCHOROIDOPATHY, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, 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, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, SOTOS SYNDROME 2, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, TENORIO SYNDROME, ?OTOFACIOCERVICAL SYNDROME 2, NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OLIVER-MCFARLANE SYNDROME, TROYER SYNDROME, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, BALLER-GEROLD SYNDROME, PSORIASIS 14, PUSTULAR, SECKEL SYNDROME 5, AICARDI-GOUTIERES SYNDROME 3, KNIEST DYSPLASIA, MENTAL RETARDATION, X-LINKED 21/34, XERODERMA PIGMENTOSUM, TYPE 1, PERLMAN SYNDROME, SECKEL SYNDROME 9, ?MICROPHTHALMIA, SYNDROMIC 11, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ANGIOEDEMA, HEREDITARY, TYPES I AND II, ?HYPOTRICHOSIS AND RECURRENT SKIN VESICLES, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, WOLCOTT-RALLISON SYNDROME, MUCKLE-WELLS SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 30, 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, LERI-WEILL DYSCHONDROSTEOSIS, CRANIOSYNOSTOSIS 6, MECKEL SYNDROME 4, CRANIOSYNOSTOSIS WITH RADIOHUMERAL FUSIONS AND OTHER SKELETAL AND CRANIOFACIAL ANOMALIES, CILIARY DYSKINESIA, PRIMARY, 22, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, ?MENTAL RETARDATION, X-LINKED 101, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, CARDIOFACIOCUTANEOUS SYNDROME 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: TCF12, TSC2, IHH, EDNRA, VARS2, GPT2, GP1BA, TBX22, RPL5, FTL, GUSB, ADAMTS18, LRRK2, PRPF3, TBCE, SCARF2, PTRH2, SLC6A8, GNPTAB, FREM1, COG6, AMBN, CAT, OCRL, DNAI2, VAX1, MTMR14, MYO18B, WWOX, DDB2, APOA1, IDS, DAG1, KLHL40, SPRED1, NR1I3, AP1S2, C2CD3, GALNT3, MLPH, CP, RMRP, ALDOA, PRKRA, PAX1, MCFD2, NRAS, SUFU, RAB3GAP2, DVL3, MMP20, CEP290, C1R, FOXC1, CTDP1, NDUFS7, ALG3, CPT2, PI4KA, WDR62, RNASET2, KIF11, IL1B, SLC6A17, EFNB1, FAR1, XRCC4, ADAT3, ADK, IFT122, CUL4B, DPM1, TNFSF11, HNRNPK, LAMC2, COL5A2, RAX, IFT27, TSR2, P2RY12, CCDC65, FOXRED1, SPRTN, FCGR3A, NLRP5, ERCC6, B4GALT7, FOXE3, FANCL, EGFR, ATXN3, AP3B1, POLR3B, KRT14, TSC1, NDUFS2, CCBE1, PEX14, DNM2, KMT2A, TRAIP, LRRC6, NAA10, MID2, ACTN1, DGUOK, SNRPN, THAP1, IDUA, BBS1, FEZF1, DNAH8, PKHD1, FAM83H, IGF1, CYB5R3, COL9A1, SHOC2, TNNT3, ADCY6, SLC34A3, MYCN, C12orf57, FGFR1, CHUK, POC1A, TGIF1, KAT6B, MEN1, GDNF, STAC3, SLC6A19, TAZ, TNFRSF11A, STAT3, KAT6A, FBXO31, BBS12, COL18A1, ALPL, NDUFB3, DNAJB6, UBR1, SC5D, NIN, ANKH, CCDC8, KANSL1, SOX18, LHX4, OPTN, GLI2, FREM2, ATP13A2, ARHGAP11A, POLH, MT-ND3, UQCC2, DYRK1A, AIMP1, ZC4H2, ASCL1, FOXG1, XYLT1, HYLS1, MFSD2A, CD79A, IFT43, RFX5, DSC3, COL6A3, COQ9, PCSK9, CHRNB1, ISPD, DDX59, F2, CEP120, STT3B, ADSL, MT-ND6, DNAAF3, IKBKG, HEXB, NRXN1, NDUFA1, KRT25, VPS53, MTHFR, EPG5, CDH1, VPS13B, ECE1, STK11, FMR1, PNPLA2, NOP56, CACNA1B, BMPER, MIR17HG, CCDC40, NF1, ARNT2, ACTA1, PABPN1, TTPA, SMARCA4, FAM177A1, NDUFAF6, FAM134B, ARMC4, IGF2, CLUAP1, HMX1, CCND1, SH3BP2, NSD1, HEXA, KDM5C, CRLF1, EBP, TALDO1, COG1, DPYD, TSHB, SPEG, PANK2, ACVR1, TBX1, CDON, BSCL2, DIS3L2, ITGB3, SGCE, KIAA0586, PAX2, ZNF469, NAT8L, KCNK9, SLC9A6, KATNB1, ITGB2, CNNM2, FHL1, FOXC2, GDF3, FBN1, PEX19, TBX21, PTS, COL27A1, ELAC2, DNAAF5, FGFR3, POLG2, COX10, EMG1, THOC2, RHBDF2, MMP14, PTGER2, B9D1, B3GAT3, ALX1, ATP7A, KIF22, ERCC4, UPK3A, TCF4, PGAP3, WDR19, KCTD1, SP110, GATA6, PLOD2, DLAT, EDNRB, POLG, AGPAT2, PSPH, DMP1, MARS2, CD96, KISS1, ST14, ACOX1, SLC52A3, SRD5A3, NDUFA11, GDF6, ERCC1, MLH1, RSPH9, AGTR1, PHYH, GAN, EDN1, DDR2, AICDA, PRPS1, KCNQ1OT1, ALG2, SCN8A, AARS, ERCC2, COL13A1, RSPH1, LTBP3, BBS5, BLM, CNTNAP1, ATP6V0A2, RAF1, IL1RAPL1, CHD7, MEOX1, SETD5, TNFRSF13C, TRAPPC11, ETV6, GLUL, DNAL1, LHX3, NDUFAF2, MEGF10, MEGF8, FANCG, RELN, TGFBR1, EP300, THRB, GCDH, CLPB, POMT2, ARL6, BBS9, ABCA5, LRP6, CTSD, TNFRSF13B, WNT7A, TTC21B, LRRC8A, RAB33B, GPC6, ELANE, CFTR, TAF2, SLC25A4, PAX6, KANK2, SLX4, PSAT1, CHRM3, GAA, GLE1, YAP1, HCCS, WRN, BRF1, KRT6A, PALB2, NEB, GRHL2, DLX5, INSR, STAP1, IFT172, KIAA0196, SCN9A, ARID1A, SERPINH1, MSH2, ROGDI, COX4I2, STIL, TACO1, UNC119, CLPP, EXOSC3, RARS2, CHKB, CAST, NKX2-6, SHH, SLC5A5, TCTN3, PDE4D, ACADS, PRRX1, NALCN, CIITA, RBBP8, UBA1, NSDHL, KDM6A, NECTIN4, PTPN14, SLC35D1, TRIM32, G6PC, WNK1, ASPM, GFI1B, ATN1, HPSE2, SPECC1L, MBD5, EVC, ATRX, SOX2, AXIN2, KCTD17, KIF21A, THRA, CCDC114, ASAH1, MGAT2, OPHN1, IFNG, DSP, SMARCE1, AAAS, SGSH, MKKS, HYDIN, TUBGCP4, NKX3-2, ADAMTSL2, DEAF1, SMC3, CAV3, BANF1, MGME1, CTNNB1, EDC3, SMAD4, CTSK, SLC35A3, IGHM, ITIH4, LRP5, LAMA3, PPP2R1A, TUBB, TCTN1, RIPK4, INPPL1, AIP, RAD50, ALX3, BRIP1, ARID1B, BBS7, GLI3, RBMX, NOTCH3, GH1, CHMP1A, TAC3, SMOC2, EYA1, ZFPM2, MASP1, EIF2B5, PIGL, AP4M1, MAPRE2, RARS, GPSM2, SRCAP, COL6A1, FTSJ1, LPL, FKTN, SALL4, CCDC39, GPX4, RAB40AL, BDNF, RNF113A, SOX11, JAM3, HLA-DQB1, RPL21, TMEM43, ALB, TAP2, ARMC5, POLR1D, APOB, TECPR2, LZTFL1, SPATA5, AFF2, FERMT3, MOCS2, CHCHD10, WDR11, AP4B1, ICR1, PDE11A, TMEM231, ADGRG6, HMGB3, NDUFB11, CDT1, TFAP2B, GALNS, MBTPS2, PXDN, SF3B4, MCOLN1, TGFB2, NDE1, HOXB1, MAP2K2, TFAP2A, GORAB, PURA, CTSC, IL11RA, C4orf26, CRIPT, MEF2C, MSX2, KIF5C, JUP, CCDC28B, WDPCP, FANCA, RB1, GCK, STIM1, ITGA8, MT-ATP6, ADAR, CBS, GHR, GMPPB, MCPH1, UBE3B, SERPINC1, SLC52A2, PLP1, VDR, FIBP, PARK2, ETFA, COG4, TWIST2, MESP2, PRKCG, FARS2, NME8, CENPJ, CLCF1, PEX1, C21orf59, MTFMT, DSPP, PNKD, ITGB4, PEPD, GNAL, KMT2D, VCP, ZBTB24, NDUFB9, PUS1, RNF135, POLR1C, AGA, VPS35, STRA6, ADA, SMAD3, ALDH18A1, HSPG2, NLRP3, HPGD, SLC38A8, MPDZ, LARGE1, F7, CYP27A1, CTSA, RSPH3, GJB6, ATP6V1B2, AGT, SEPT9, PPP1R3A, MAGEL2, RPGRIP1L, IRX5, MANBA, ALG1, IL21R, BCOR, SEPSECS, ST3GAL5, SPAG1, SERPING1, PRKAG2, PRKACG, FANCD2, TCOF1, DRD2, ICOS, SCNN1G, QDPR, NDUFAF4, MRPS22, ANOS1, NOTCH2, PARN, SNCAIP, GATA2, SCNN1A, RAI1, RFXAP, GFPT1, CYP26B1, PSMB8, LMBRD1, POGZ, CNNM4, IMPAD1, SLC25A46, MPC1, RPS6KA3, RPL26, DNM1L, MOCS1, DLL3, FAM20C, SETBP1, KIF14, SLC25A19, PITX3, LMX1B, CNTN1, VHL, COL4A1, SMARCAL1, FKBP14, BIN1, ADAMTS2, TUBGCP6, METTL23, ALOX12B, DCTN1, ZBTB42, DPM2, H19, PTEN, F13A1, EHMT1, CCNO, COL12A1, FAT4, HPCA, JAK3, WAS, ENTPD1, POLE, SLC1A4, GBA, TSEN34, INS, LAMTOR2, TCN2, TMEM165, HRAS, NDUFS6, OCLN, NIPAL4, TINF2, DHFR, AVP, FUCA1, ACP5, TSHZ1, NBN, COL5A1, KISS1R, TK2, TGM1, EIF2B3, SIX3, UNG, RNF168, FGD1, POU1F1, ABHD5, PHOX2A, MITF, SMARCA2, ZNF592, TUBA1A, NKX2-5, GP1BB, GAS1, TPM3, POF1B, PTCH2, CANT1, SPG20, COL11A2, LONP1, CLCN7, HS6ST1, PYCR1, ZIC3, FAM20A, TUBG1, ORC6, ITK, PROKR2, PAX8, VPS33B, QARS, PLA2G6, REN, DCPS, MYH3, WDR81, SNRPB, RPS28, VWF, ARX, MECP2, ATPAF2, DOK7, ANKLE2, BBS10, FGF20, CCND2, EXT2, RMND1, IGF1R, LDLR, NEFL, ZBTB18, AMPD2, TBC1D7, SLC37A4, RAG2, TBX15, SNAP29, PAH, CSF3R, FLNA, POLR3A, SMS, FKBP10, PMP22, PDHA1, ANO5, ETFB, KLLN, CD19, TRPS1, RPGR, PLCG2, DRD5, PDGFRA, MT-ND5, DPAGT1, PNP, HOXD13, ACO2, DNMT3B, NHP2, MYH11, PHGDH, ATR, HPS1, PORCN, CA2, RASGRP2, PIGW, CC2D2A, LBR, TBXA2R, SUOX, SNRPE, CDC6, ZMYND10, IL17RD, ESCO2, TERT, FH, FAM58A, TTC8, RPS19, POR, TGFBR2, P3H1, MAFB, KLK4, UPB1, MYOT, NF2, SCN4A, ALMS1, SLC26A2, SLC39A8, SKIV2L, SYNE1, PLAG1, CASK, ALG11, CBL, KCNJ1, RNASEH2A, MFRP, HSPD1, MT-CYB, ABCD4, GAD1, TNNT2, SH2D1A, FBXL4, ANKRD11, RBM28, LIAS, ATOH7, CHST14, CEP63, CD40LG, CRTAP, MATR3, PNKP, DBH, PPP1R17, MMACHC, TAPBP, PPIB, GGCX, SH3PXD2B, COX15, LRPAP1, PEX13, PEX5, IL1RN, XPC, ZMYND11, NLRP12, AHDC1, EIF2B1, SLC2A1, FGF23, TGM6, SLC46A1, ERCC6L2, PIK3R2, PUF60, RFXANK, CXCR4, PDHX, PIEZO2, NSMF, SPRY4, DYX1C1, ENG, PDSS1, CENPE, WNT10A, BRWD3, DST, FKRP, PAK3, CTCF, POMK, DHCR24, COX7B, RDH11, P2RX1, FGF10, EXOC8, NOP10, SKI, B3GALNT2, RPS26, TREX1, LRP4, ORC4, TH, POMT1, F5, SEMA3E, SNX10, ZIC1, NCF4, ACY1, LIPH, SLC25A1, SPTAN1, PODXL, MT-CO3, SOS1, CDC73, ENAM, DLL4, CD79B, POMGNT2, CLP1, SOX9, FOXL2, SERPINA1, NDUFAF1, PPT1, TTC37, GNS, PLOD3, KIF2A, CFL2, B9D2, EARS2, ADAMTS10, RBM10, MRPS16, EDN3, TCIRG1, AP4E1, RAB18, STRADA, FGF5, BRAF, HPS6, PIGV, GNPTG, UBE2A, BLNK, RSPRY1, TMEM70, SMAD9, SNIP1, CYP27B1, NFKB2, ALDH3A2, KCNJ5, TGDS, MFAP5, TNFRSF11B, SMN2, NAGLU, PEX3, SLC16A2, ADRA2B, TCTN2, SMC1A, LMNB2, SLC20A2, SEC24D, KCNH1, MAF, DHTKD1, TUBB4A, DYNC1H1, IFT140, SHOXY, AR, CHRNE, SLC12A6, ACTG1, ASXL1, ABCB6, CREBBP, DVL1, PCLO, PEX7, NIPBL, ZSWIM6, IL6, CRYAB, COLEC11, HCFC1, CTLA4, KIF1BP, ASPA, SMOC1, MGP, ALG13, CCDC151, CAMTA1, PLCB4, TSEN2, IFIH1, BRCA2, GATAD2B, RNASEH2C, PEX6, CARS2, PMM2, GNAI3, LEP, CDK5, WDR35, CTC1, FGF3, PDE6D, LTBP4, JAG1, TEK, ECEL1, COL2A1, RBPJ, NUBPL, RIN2, RUNX1, STT3A, ELN, LZTR1, SLC39A4, KRT85, MAPT, AP4S1, MOGS, ABCA1, PLOD1, ITGA6, MMP13, NFKBIA, DSE, ERCC5, DHODH, RBP4, DKC1, NDUFV1, ALX4, ABCC8, HUWE1, DDHD2, SMCHD1, HLA-DRB1, SYN1, BBS4, RAPSN, LTBP2, PLK4, PRKAR1A, PHC1, SAMD9, SETX, SALL2, SLC24A4, MT-ND1, DNA2, POLD1, ACADSB, VSX1, AMER1, CHRND, GDF2, SLC13A5, NDUFS3, SMARCB1, SYNJ1, CLDN1, PNPLA6, TBX4, PCNT, HERC2, DNMT3A, THOC6, MSX1, DRC1, TSEN54, NDUFAF5, TUFM, DDC, CNBP, CHRNG, RAG1, PIGT, ITGB6, TAP1, OTX2, PTHLH, EIF2B2, SLC35A2, SOX10, SLC25A22, PLG, MAN2B1, IBA57, NEU1, BMP4, SNAI2, PDGFRB, MTMR2, XYLT2, EIF2B4, HLA-DQA1, PTCH1, ACE, APOA2, KRAS, RNASEH2B, TRAF3IP2, KRT4, HYAL1, MID1, TRMT10A, DOCK6, TNNI2, AGRN, RAB3GAP1, ETFDH, CCDC22, HDAC6, EPHX2, AP1S1, RSPH4A, IARS2, ZBTB16, NLRP1, KLHL41, CYP24A1, ARHGAP31, TUBA8, LARS, NARS2, SPR, ZIC2, CSPP1, TGFB3, APC, CHRNA1, PYCR2, UROS, PRKDC, NDUFS1, DTNBP1, CFI, MED12, PGM3, TOR1A, ASPH, TP53, MCM4, ATP7B, B3GALT6, SHANK3, LPAR6, HGSNAT, NMNAT1, SUMF1, ITCH, DNAJC13, SEMA3A, WDR72, HSD17B4, DHCR7, PRNP, RPL35A, ATM, IER3IP1, AKT3, NDUFV2, DIAPH1, FGFR2, UBE3A, MYH8, L1CAM, RET, SPTBN2, KCNJ2, VSX2, LINS1, RNF125, ASXL3, NFIX, CKAP2L, ATIC, TERC, LAMB1, TMEM216, WDR73, GNAS, WNT5A, COL3A1, ANO3, TP63, DOCK7, PCYT1A, GLYCTK, SLC17A5, DNAAF1, NOG, KIF7, ITGA3, TBC1D24, MLC1, POMGNT1, ARFGEF2, ARSE, SBF1, KMT2C, TRMT5, DYNC2H1, KL, ERBB3, NDUFAF3, CEP135, SPINK5, COL6A2, P4HB, IGBP1, CHAMP1, BUB1B, ABAT, SASS6, NOD2, TAF6, BTD, TUBB2B, SUCLA2, ROR2, PPP2R2B, TRAPPC9, DUSP6, FOXE1, GATA1, MAN1B1, LMOD3, FANCE, AGL, MT-TE, CD151, SCNN1B, TMCO1, TPM2, SH3TC2, PITX2, PQBP1, AKT1, BEST1, LRPPRC, LARP7, PINK1, EZH2, TWIST1, ERCC8, DSG4, DNAH1, EDAR, OBSL1, GNE, DPP6, KIAA2022, ZEB2, MTM1, GJC2, CHST3, PIGA, ASNS, TRIP11, VPS13A, SEPN1, PIGN, SEC23A, PTPN11, PEX12, B4GALT1, DMPK, NR4A2, TMEM98, NDUFS4, DNAAF2, EDARADD, GATA4, ZMPSTE24, VIPAS39, ADAM17, SYNGAP1, BRAT1, TMEM138, GTF2H5, FGF8, ATP1A3, PRDM5, SURF1, ACTB, PIK3CA, COL1A2, GFAP, D2HGDH, ITGA2B, G6PC3, UBB, ZBTB20, LRBA, PRSS56, BAG3, PROK2, GDF5, DES, BBS2, DLD, CAPN3, CLDN19, IL2RG, CUL7, KIF1A, FIG4, IGSF3, MMP2, ABCC6, PCDH15, SP7, NOTCH1, ERCC3, ATXN8OS, SIX6, AFF4, PAX9, COL17A1, GK, SPINT2, SCP2, CDH3, GP6, GDF1, SIX5, TENM3, UPF3B, RARB, SOS2, BMP1, MT-TL1, CTNS, SLC29A3, PTH1R, GRIP1, NDN, TXNL4A, NPHP3, FOXP1, CASC5, FRAS1, CDK5RAP2, CFAP57, LRP2, MYH2, CDKL5, ANTXR1, AIRE, NBAS, DLG3, TTI2, PPP2R5D, PAX3, ATP2A2, RFT1, TGFB1, PGM1, SOST, LMNA, EIF2AK3, CCDC103, GRHL3, WDR60, OFD1, PCNA, DCLRE1C, IFITM5, TMEM67, NECTIN1, ALOXE3, SOBP, C10orf2, SATB2, DCAF17, DCHS1, PHEX, PAFAH1B1, SALL1, RAD21, ALDH6A1, CDK6, EFTUD2, KCNJ6, RAB39B, TRAPPC2, DNAH5, RECQL4, TSPYL1, EIF4A3, NADK2, IGHMBP2, DPYS, SNX14, ARSB, MMP1, FANCM, DNAI1, CC2D1A, MKS1, ZDHHC15, MFN2, PLEC, HR, SLC2A10, CRYAA, SMN1, PTF1A, ACVRL1, EDA, GFM1, CEP152, ORAI1, SLURP1, ICK, KRT16, EEF1A2, TNFRSF1A, DYM, B3GLCT, GSC, GP9, STAMBP, ACD, PAM16, TMEM237, COL7A1, COA6, GLB1, SMPD1, PTDSS1, FOXP2, ZNF335, TBC1D20, MAB21L2, USP9X, BRCA1, TUBB3, ATP5A1, ALDH1A3, SCN1A, KRT74, PIGO, TTN, SUMO1, TRPV4, AHI1, SSR4, HDAC8, MYH7, KRT17, MT-ND4, WNT3, MED25, ERF, TBP, MYH9, COL11A1, NEK1, C12orf65, ABCC9, AUTS2, RIT1, MT-ND4L, F10, ADNP, PGAP2, NPR2, IRF6, MPLKIP, TRIM37, PRRT2, FLNB, PTPRF, MAP2K1, CAV1, POLR1A, BBIP1, COL1A1, KBTBD13, ORC1, AMELX, BCAP31, DDX3X, TBX3, PPARG, FAM111A, MCIDAS, HIBCH, SZT2, BTK, OVOL2, PARK7, PNPO, CLASP1, EFEMP2, KCNT1, CECR1, EMD, MT-ND2, GRIA3, CYP2R1, HEPACAM, FBLN5, RBM8A, ABCA12, NHS, PACS1, LYST, GCH1, LRP1, RYR1, LTC4S, EVC2, LIFR, DDX11, IKBKAP, GNPAT, NSUN2, ELOVL4, FANCC, SLC35C1, RTTN, NDP, FERMT1, ADCY5, RNU4ATAC, GPC3, KCNJ11, GJA1, INPP5E, ALS2, MVK, KPTN, ACAN, LAMB3, SIX1, FBN2, GNAQ, SHOX, IL36RN, C5orf42, PHOX2B, MED17, PLAU, CHSY1, CDKN1C, USH1G, DLX3, SIL1, MUSK, ADH1C, USB1, ERLIN2, RUNX2, COL4A3BP, XPA, RAB23, GJB2, PEX2, ATXN2, ZAK, PHF6, IL17RC, AHCY, SLC39A13, KCTD7, LMBR1, CEP57, FLVCR2, GLUD2, ANTXR2, HOXA2, RTEL1, TBXAS1, DOLK, NAGA, MPDU1, GNRH1, B4GAT1, PIK3R1, NBEAL2, FTO