SKELETAL

HYPER-IGE RECURRENT INFECTION SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, EXOSTOSES, MULTIPLE, TYPE 1, BRUCK SYNDROME 2, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, HAIM-MUNK SYNDROME, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, MEND SYNDROME, OCCIPITAL HORN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, ANGELMAN SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HAY-WELLS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, LYSYL HYDROXYLASE 3 DEFICIENCY, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, IMMUNODEFICIENCY 12, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, KAHRIZI SYNDROME, PELGER-HUET ANOMALY, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, KLEEFSTRA SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, TIMOTHY SYNDROME, NOONAN SYNDROME 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, BRACHYDACTYLY, TYPE E2, SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?FANCONI RENOTUBULAR SYNDROME 3, WIEDEMANN-STEINER SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, MUENKE SYNDROME, ?HIP DYSPLASIA, BEUKES TYPE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, GLYCOGEN STORAGE DISEASE IC, NICOLAIDES-BARAITSER SYNDROME, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, CRANIOLENTICULOSUTURAL DYSPLASIA, FRAGILE X SYNDROME, ?DYSTONIA 23, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ASPARTYLGLUCOSAMINURIA, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MENKES DISEASE, CRANIOSYNOSTOSIS, TYPE 2, METACHONDROMATOSIS, SED, MAROTEAUX TYPE, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE VIII, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, NOONAN SYNDROME 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, WHITE-SUTTON SYNDROME, BRACHYOLMIA TYPE 3, WOLFRAM SYNDROME, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 9, GLUTAMINE DEFICIENCY, CONGENITAL, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, OSTEOGENESIS IMPERFECTA, TYPE IV, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PERIODIC FEVER, FAMILIAL, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, TARSAL-CARPAL COALITION SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, HERMANSKY-PUDLAK SYNDROME 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SYMPHALANGISM, PROXIMAL, 1A, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, FANCONI ANEMIA, COMPLEMENTATION GROUP C, EVEN-PLUS SYNDROME, KNOBLOCH SYNDROME 1, [BONE MINERAL DENSITY VARIABILITY 1], ARTHROGRYPOSIS, DISTAL, TYPE 8, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, DUCHENNE MUSCULAR DYSTROPHY, ALAGILLE SYNDROME, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ANDERSEN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, OSTEOGENESIS IMPERFECTA, TYPE VII, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, HYPOCHONDROPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?PRUNE BELLY SYNDROME, POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ADULT SYNDROME, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DYSTONIA-1, TORSION, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, PARIETAL FORAMINA 1, DIAMOND-BLACKFAN ANEMIA 1, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, CAMURATI-ENGELMANN DISEASE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, POPLITEAL PTERYGIUM SYNDROME 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, METATROPIC DYSPLASIA, DEJERINE-SOTTAS DISEASE, PARASTREMMATIC DWARFISM, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), IMMUNODEFICIENCY 43, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, GREENBERG SKELETAL DYSPLASIA, CAPOS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, SHORT SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AURICULOCONDYLAR SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, LIMB-MAMMARY SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, BRACHYDACTYLY, TYPE A1, D, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, COLE-CARPENTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, BERGER DISEASE, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?CHARGE SYNDROME, CHARGE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, CORNELIA DE LANGE SYNDROME 1, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FACTOR VII DEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, NEUROFIBROMATOSIS, TYPE 1, MYHRE SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CONGENITAL DISORDER OF DEGLYCOSYLATION, LADD SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MYOPATHY, TUBULAR AGGREGATE, 1, LYMPHEDEMA, HEREDITARY, III, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SMITH-LEMLI-OPITZ SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, LEUKODYSTROPHY, HYPOMYELINATING, 4, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, PITUITARY DEPENDENT HYPERCORTISOLISM, CATSHL SYNDROME, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, MYOPATHY, DISTAL, TATEYAMA TYPE, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, CAFFEY DISEASE, NIEMANN-PICK DISEASE, TYPE A, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHONDROSARCOMA, HYPERPARATHYROIDISM, NEONATAL, LATHOSTEROLOSIS, CHILD SYNDROME, EXUDATIVE VITREORETINOPATHY 4, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, CODAS SYNDROME, RITSCHER-SCHINZEL SYNDROME 1, VON WILLIBRAND DISEASE, TYPE 3, WOLCOTT-RALLISON SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPOPHOSPHATASIA, CHILDHOOD, EIKEN SYNDROME, PAGET DISEASE OF BONE 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SMITH-KINGSMORE SYNDROME

PEX5, CA2, SLC34A1, RPL5, PEX14, COL10A1, PHEX, DSP, PLOD3, KMT2A, CDK5, TSC2, NGLY1, ZFYVE27, RAD21, ACTB, LBR, SQSTM1, SC5D, IKBKG, CDT1, CTSA, MAPT, GBA2, FTL, F2, AGT, TP63, ADAMTS18, COX6A1, TRAPPC2, ALG3, LRBA, PRKAR1A, CALCR, GNAI2, ALB, NSDHL, ITGA8, G6PC3, NEB, B2M, KISS1R, ARSE, NOG, ALG1, KIF1B, DPM2, RAB7A, PTRF, COL1A1, TRIM32, DES, CACNA1B, POMGNT1, RTN2, KCNJ11, BMP4, SIL1, TGFBR2, EMD, PDGFRB, IGF1, WFS1, P3H1, SLC37A4, MAFB, RBPJ, ATL3, KIF1A, NF1, FIG4, PCNA, SMARCA2, VLDLR, INF2, GRIP1, WNT5A, TRPV4, KRAS, TP53, MEGF10, MAP2K2, LZTR1, CAPN3, IRF5, P4HB, AGTR1, TOR1A, SEMA3E, NOTCH1, GLUL, SMARCB1, HS6ST1, DAG1, CIITA, RYR1, HLA-DRB1, KIF5A, FKRP, MOGS, COL1A2, HNRNPK, IFT80, MSMO1, POGZ, MSX2, ESR1, COPA, LONP1, CNTNAP1, NR1I3, MET, RPS19, IFNG, PRX, PTH1R, ELOVL4, FMR1, LRSAM1, TGFBR1, EP300, SNX10, SLC4A1, HSPD1, NR2F1, TNFRSF1A, TMEM173, SRD5A3, ALPL, TSHR, REEP1, PLOD2, FGF23, CREBBP, BIN1, F7, TRAPPC9, ATP7A, BRAF, INS, ABCC8, SNAP25, CTSD, USP8, CAV3, STIM1, ATL1, DDX3X, SMPD1, TNPO3, GJB1, TGFB2, SERPINH1, DSE, MYH3, NGF, SMAD4, EXT1, UFSP2, VWF, CBS, PEX19, GOSR2, MC2R, CRTAP, TNFSF11, CASR, DMD, LRP2, ALDH3A2, HNF4A, BMP2, HRAS, FLNA, MTOR, PTHLH, AKT1, TUBB3, PLEC, VDR, C19orf12, PPIB, HSD17B10, NAGLU, WAS, PEX3, SEC63, HLA-C, ATP1A3, HFE, NOTCH2, CBL, ARL6IP1, PRKCD, NCF1, EDN1, MALT1, PSTPIP1, ARL6, HSPA9, EFNB1, CCND2, PTEN, FGFR3, SLC9A3R1, CHRM3, DST, BTK, ERLIN2, STAT3, RUNX2, SUMF1, AGPAT2, PFKM, DDX41, DPM1, LRP5, POR, DHCR24, CYBB, AIMP1, SSR4, CHEK2, SEC23A, FBLN1, ACTG1, BMPR1B, PIGA, DHCR7, SMC3, PRKCSH, TGFB1, JAG1, CENPE, ARSB, PIP5K1C, VCP, EIF2AK3, AP3B1, SPTLC1, STAT1, ACVR1, POMT1, PIGR, CACNA1C, INSR, EBP, HLA-B, PTPN11, KIAA0196, SOS1, EGR2, FKTN, CTSC, UBE3A, EHHADH, FANCC, L1CAM, GNAS, SNRPB, TRH, PIEZO1, RET, AGA, KCNJ2, LRP6, MFAP5, HACE1, GJA1, ITGA7, SPG7, MPDU1, COL4A3BP, ITGA6, SMAD3, IRF6, HSPG2, EXT2, PLCB4, KL, MTRR, REEP2, IER3IP1, PIK3R1, MMP2

BASAL CELL NEVUS SYNDROME, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MELNICK-NEEDLES SYNDROME, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, BARAITSER-WINTER SYNDROME 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, HUTCHINSON-GILFORD PROGERIA, METATROPIC DYSPLASIA, MYOPATHY, TUBULAR AGGREGATE, 1, PARIETAL FORAMINA 2, MENTAL RETARDATION, X-LINKED 99, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, HARTSFIELD SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, ANGELMAN SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, JACKSON-WEISS SYNDROME, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, NEUROFIBROMATOSIS, TYPE 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OTOPALATODIGITAL SYNDROME, TYPE I, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, WAARDENBURG SYNDROME, TYPE 1, PARASTREMMATIC DWARFISM, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, FRONTONASAL DYSPLASIA 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, WAARDENBURG SYNDROME, TYPE 3, FRAGILE X SYNDROME, LOEYS-DIETZ SYNDROME 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, SED, MAROTEAUX TYPE, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HEART-HAND SYNDROME, SLOVENIAN TYPE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, BRACHYOLMIA TYPE 3, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

PTCH1, TSC2, STIM1, TGFBR1, GRIP1, ITGA8, CDK5, IGHMBP2, PAX3, ACTG1, ADCY6, ALS2, MMP2, MECP2, KPTN, HDAC6, DVL1, MAPT, AGT, RYR1, FGFR1, TSC1, USP9X, OTX2, LMNA, TRIM2, FLNA, AKT1, MYH14, GJA1, SMARCE1, IGF1R, MMP13, WAS, FMR1, ITGA3, NRXN1, NEFL, PCNA, TOR1A, GRM1, APC, SNAP25, HRAS, EMD, NF1, TRPV4, CDKL5, NGF, EXOC8, NEB, ALX4, KIT, PAM16, SIGMAR1, CASK, PIK3R1

BASAL CELL NEVUS SYNDROME, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MELNICK-NEEDLES SYNDROME, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, BARAITSER-WINTER SYNDROME 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, HUTCHINSON-GILFORD PROGERIA, METATROPIC DYSPLASIA, MYOPATHY, TUBULAR AGGREGATE, 1, PARIETAL FORAMINA 2, MENTAL RETARDATION, X-LINKED 99, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, HARTSFIELD SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, ANGELMAN SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, JACKSON-WEISS SYNDROME, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, NEUROFIBROMATOSIS, TYPE 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OTOPALATODIGITAL SYNDROME, TYPE I, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, WAARDENBURG SYNDROME, TYPE 1, PARASTREMMATIC DWARFISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, FRONTONASAL DYSPLASIA 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, WAARDENBURG SYNDROME, TYPE 3, LOEYS-DIETZ SYNDROME 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, SED, MAROTEAUX TYPE, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HEART-HAND SYNDROME, SLOVENIAN TYPE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, BRACHYOLMIA TYPE 3, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

PTCH1, TSC2, STIM1, TGFBR1, GRIP1, ITGA8, CDK5, IGHMBP2, PAX3, ACTG1, ADCY6, ALS2, MMP2, MECP2, KPTN, HDAC6, FLNA, MAPT, AGT, RYR1, FGFR1, TSC1, USP9X, OTX2, LMNA, TRIM2, AKT1, MYH14, GJA1, SMARCE1, DVL1, MMP13, WAS, ITGA3, NRXN1, NEFL, PCNA, TOR1A, APC, SNAP25, HRAS, EMD, NF1, TRPV4, CDKL5, NGF, EXOC8, NEB, ALX4, KIT, PAM16, SIGMAR1, CASK, PIK3R1

PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEFT PALATE, ISOLATED, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, SICKLE CELL ANEMIA, HYPER-IGE RECURRENT INFECTION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, ?STEEL SYNDROME, MANDIBULOACRAL DYSPLASIA, BRUCK SYNDROME 2, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, GAUCHER DISEASE, TYPE IIIC, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ADAMS-OLIVER SYNDROME 3, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, HAY-WELLS SYNDROME, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, WAARDENBURG SYNDROME, TYPE 4C, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, CULLER-JONES SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NOONAN SYNDROME 4, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, CHERUBISM, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MYOPATHY, DISTAL, TATEYAMA TYPE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, OSTEOGENESIS IMPERFECTA, TYPE VIII, OSTEOGENESIS IMPERFECTA, TYPE XVII, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, STICKLER SYNDROME, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE XV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP C, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, WEISSENBACHER-ZWEYMULLER SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, CAFFEY DISEASE, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, MEIER-GORLIN SYNDROME 1, FARBER LIPOGRANULOMATOSIS, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, PYCNODYSOSTOSIS, PROPIONICACIDEMIA, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, EHLERS-DANLOS SYNDROME, TYPE VI, BRACHYDACTYLY, TYPE C, CEREBROTENDINOUS XANTHOMATOSIS, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, HOLOPROSENCEPHALY-9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OMODYSPLASIA 1, PERIODIC FEVER, FAMILIAL, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, NEMALINE MYOPATHY 5, AMISH TYPE, BRACHYDACTYLY, TYPE A1, C, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, HEMOPHILIA A, MULTIPLE SYNOSTOSES SYNDROME 2, FANCONI ANEMIA, COMPLEMENTATION GROUP O, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, BEHR SYNDROME, MALOUF SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GAUCHER DISEASE, TYPE I, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PERRAULT SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, KNOBLOCH SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 3B, MYASTHENIC SYNDROME, CONGENITAL, 5, ?OSTEOGENESIS IMPERFECTA, TYPE XII, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, SPONDYLOPERIPHERAL DYSPLASIA, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, ?MUCOPOLYSACCHARIDOSIS TYPE IX, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, MUSCULAR DYSTROPHY, CONGENITAL, ESTROGEN RESISTANCE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, OSTEOGENESIS IMPERFECTA, TYPE VII, ALAGILLE SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, CORNELIA DE LANGE SYNDROME 2, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MUCOPOLYSACCHARIDOSIS, MPS-III-A, SECKEL SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ADAMS-OLIVER SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, ADULT SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DYSTONIA-1, TORSION, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, HEART-HAND SYNDROME, SLOVENIAN TYPE, CHONDRODYSPLASIA, GREBE TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, MUCOPOLYSACCHARIDOSIS IVA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, BASAL CELL NEVUS SYNDROME, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BRUCK SYNDROME 1, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, DEJERINE-SOTTAS DISEASE, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, GLUTAMINE DEFICIENCY, CONGENITAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, BETHLEM MYOPATHY 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, ROBINOW SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, COLE-CARPENTER SYNDROME 1, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, BURN-MCKEOWN SYNDROME, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MARINESCO-SJOGREN SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, KOSAKI OVERGROWTH SYNDROME, FIBROCHONDROGENESIS 2, [BONE MINERAL DENSITY VARIABILITY 1], COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PHYTANIC ACID STORAGE DISEASE, FACTOR VII DEFICIENCY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CONGENITAL DISORDER OF DEGLYCOSYLATION, LADD SYNDROME, PALLISTER-HALL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, MOHR-TRANEBJAERG SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, GAUCHER DISEASE, PERINATAL LETHAL, LEUKODYSTROPHY, HYPOMYELINATING, 3, BRACHYDACTYLY, TYPE B1, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MARSHALL SYNDROME, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, CZECH DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, ZIMMERMANN-LABAND SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, COENZYME Q10 DEFICIENCY, PRIMARY, 7, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, LEUKODYSTROPHY, HYPOMYELINATING, 4, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RUBINSTEIN-TAYBI SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, FUHRMANN SYNDROME, MUCOPOLYSACCHARIDOSIS II, OSTEOGENESIS IMPERFECTA, TYPE XI, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, WEAVER SYNDROME, NIEMANN-PICK DISEASE, TYPE A, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, GM1-GANGLIOSIDOSIS, TYPE I, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, STICKLER SYNDROME, TYPE II, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, PERRAULT SYNDROME 5, EXUDATIVE VITREORETINOPATHY 4, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, PCWH SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, EHLERS-DANLOS SYNDROME, TYPE IV, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, VON WILLIBRAND DISEASE, TYPE 3, WOLCOTT-RALLISON SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, GM1-GANGLIOSIDOSIS, TYPE III, HEMOCHROMATOSIS TYPE 1, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CUTIS LAXA, AUTOSOMAL DOMINANT 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, CODAS SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, SMITH-KINGSMORE SYNDROME

LMNA, PEX14, MARS2, F2, HBB, ASAH1, POLR1A, CDK5, HSPB1, LARS, COL1A1, ACADS, F8, FKBP10, CYP27A1, WNT5A, IKBKG, TWIST1, COL3A1, ARSE, RPL5, FTL, ALPL, GUSB, AGT, PCCB, GCK, MUC5B, GARS, COL5A1, SPARC, NGLY1, SMPD1, GGCX, PCCA, UCHL1, REN, SOX10, B2M, COL6A3, IL10, EGR2, EOGT, RAB7A, MFAP5, MMP1, DNM2, PIK3CA, AGXT, GALNS, BMP4, CDC73, SIL1, TGFBR2, HNRNPA1, TIMM8A, IGF1, CAPN3, EFNB1, P3H1, ARL6IP1, WNT7A, COL9A3, COMP, RAD21, RBPJ, COL10A1, MUSK, COL9A1, HTRA1, ACTA1, SOX9, ACTB, ACAN, LRP6, KRAS, SUFU, ERBB3, CBL, CIITA, FGF9, FIBP, F7, NME1, GMPPB, WNT1, P4HB, AGTR1, IDS, GNAS, HYAL1, SHMT1, ATR, DAG1, GLI2, FANCC, CBS, GATA2, HLA-DRB1, PITX1, SH3BP2, MET, TAF6, CTSA, WNT3, MSMO1, IFNG, PLOD1, ESR1, DSP, PLOD3, LONP1, GNAI2, HS6ST1, MMP13, GNPAT, PYCR1, PRX, STAT1, TNNT1, DVL1, PDGFRA, TGFBR1, EP300, CRTAP, NEU1, ATP6V1B2, HSPD1, NR2F1, ROR2, SSR4, EZH2, CASR, SF3B4, GSC, PLOD2, FBXL4, CREBBP, TNFRSF1A, TP63, DDR2, NOTCH1, INS, PAM16, COL11A2, COL7A1, COQ4, PTCH1, CAV3, TOR1A, SGSH, GLB1, ARSB, TGFB3, GJA1, VRK1, TGFB2, GLI3, HSD17B10, SMAD4, SDHD, DARS2, VWF, GNS, SERPINH1, PAX2, COL17A1, YARS, HDAC6, PDGFRB, IARS2, PMPCA, CTSD, RAB33B, TUBB, PEX5, RAPSN, BMP2, GDF5, COL6A1, FKBP14, FLNA, MTOR, NDN, AKT1, CCND2, SOX2, TXNL4A, PPIB, PHYH, IGF1R, COL18A1, ALDH18A1, KARS, SEC63, HLA-C, SLC25A4, LRP2, NOTCH2, HOXD10, AGPS, COL27A1, PRKCD, COASY, TP53, POLD1, SMC1A, COL6A2, JAG1, TINF2, RAD51C, HSPA9, HK1, COL13A1, PTEN, F13A1, LZTR1, CALCR, CRYAB, CHRM3, IDUA, ITGA6, STAT3, RUNX2, SUMF1, COL2A1, SDHAF1, ACE, PDK3, LRP5, UQCC2, SMAD3, NGF, AIMP1, FRZB, HNRNPK, NT5C2, PAX3, INPPL1, IRF6, HSD17B4, PRKCSH, TGFB1, IGF2, PTPN11, PEX12, PANK2, DVL3, COLQ, NAGLU, EIF2AK3, COL11A1, HEXB, KISS1, PEX7, ORC1, PCNA, FXN, INSR, SERPINC1, COL5A2, AKT3, SOS1, TANGO2, DNMT1, MECP2, GBA, UBE3A, GLA, GLUL, GPX4, SNRPN, L1CAM, OPA1, SNRPB, TRH, CLASP1, GPC3, COL9A2, PEX19, APC, SMC3, HRAS, COL1A2, CTSK, AP3B1, GPC6, ADA, SERPINF2, MYH11, ALB, HSPG2, FGF10, EXT2, PAX8, C10orf2, F10, HFE, RYR1, PIK3R1, MMP2

AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, BRUCK SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XI, POPLITEAL PTERYGIUM SYNDROME 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CHILD SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, COLE-CARPENTER SYNDROME 1, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, COLE-CARPENTER SYNDROME 2, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, HUTCHINSON-GILFORD PROGERIA, MYOPATHY, TUBULAR AGGREGATE, 1, SICKLE CELL ANEMIA, DEJERINE-SOTTAS DISEASE, AGAMMAGLOBULINEMIA, X-LINKED 1, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, KLEEFSTRA SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, AURICULOCONDYLAR SYNDROME 3, SPLIT-HAND/FOOT MALFORMATION 4, EXOSTOSES, MULTIPLE, TYPE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, PETERS-PLUS SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, ?LAURENCE-MOON SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ADAMS-OLIVER SYNDROME 5, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MEND SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, HEMOCHROMATOSIS, TYPE 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERIODIC FEVER, FAMILIAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, 3MC SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, IMMUNODEFICIENCY 43, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CK SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, SPONDYLOOCULAR SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SHORT SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, WHITE-SUTTON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, BRACHYDACTYLY, TYPE A1, D, RHEUMATOID ARTHRITIS, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ACROCAPITOFEMORAL DYSPLASIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PRADER-WILLI SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CHIME SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, TUBEROUS SCLEROSIS 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BARAITSER-WINTER SYNDROME 1, HAY-WELLS SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 2, WAARDENBURG SYNDROME, TYPE 4C, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DONNAI-BARROW SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, KAHRIZI SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, CORNELIA DE LANGE SYNDROME 3, MULTIPLE ENDOCRINE NEOPLASIA IIB, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, CORNELIA DE LANGE SYNDROME 4, GHOSAL HEMATODIAPHYSEAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ?WEBB-DATTANI SYNDROME, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, WARBURG MICRO SYNDROME 4, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PITUITARY DEPENDENT HYPERCORTISOLISM, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, CHONDROSARCOMA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, SCHNECKENBECKEN DYSPLASIA, LYMPHEDEMA, HEREDITARY, III, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, ALAZAMI SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, GLYCOGEN STORAGE DISEASE IC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, LATHOSTEROLOSIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, DESBUQUOIS DYSPLASIA 2, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS TYPE 1, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, MALOUF SYNDROME, HEMOPHILIA A, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FRAGILE X SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, COWDEN SYNDROME 7, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, EHLERS-DANLOS SYNDROME, TYPE 3, POLYCYSTIC LIVER DISEASE, INCONTINENTIA PIGMENTI, DESBUQUOIS DYSPLASIA 1, MYOPATHY, DISTAL, TATEYAMA TYPE, METACHONDROMATOSIS, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, [URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, HYALINE FIBROMATOSIS SYNDROME, BRUCK SYNDROME 2, VON WILLIBRAND DISEASE, TYPE 3, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, WOLCOTT-RALLISON SYNDROME, MUSCULAR DYSTROPHY, RIGID SPINE, 1, HAJDU-CHENEY SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, WEAVER SYNDROME, LATERAL MENINGOCELE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LEPRECHAUNISM, HYPOPHOSPHATASIA, CHILDHOOD, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, GNATHODIAPHYSEAL DYSPLASIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, RENAL ADYSPLASIA, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, EHLERS-DANLOS SYNDROME, TYPE VI, ADULT SYNDROME, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MECKEL SYNDROME 3, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, WOLFRAM SYNDROME, SENIOR-LOKEN SYNDROME 9, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, DIAMOND-BLACKFAN ANEMIA 7, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 1, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, SJOGREN-LARSSON SYNDROME, LEOPARD SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, EZH2, F2, TREX1, UPK3A, POLR1A, HSPB1, PDE4D, ZFYVE27, RAD21, POMT1, FKBP10, LBR, PIGT, SC5D, IKBKG, G6PC, CTSA, RPL5, B3GLCT, AGT, EIF4A3, PTDSS1, HBB, ALG3, PRKAR1A, CALCR, PCYT1A, NSDHL, BTK, GJA1, G6PC3, B2M, STK11, DST, DPM2, RAB7A, JPH1, CDC6, SEC23A, DES, ALG2, NOTCH3, ARSE, POR, SMAD4, IGF1, WFS1, HSD11B1, SLC37A4, GNAI2, RBPJ, ATL3, PTEN, CYP2R1, SLC33A1, ACTB, PIGO, KRAS, ERBB3, CBL, SLC17A3, LZTR1, CYP7B1, NME1, POMK, P4HB, AGTR1, NOTCH1, AGPAT2, CBS, RYR1, PLOD3, MOGS, LMNA, CFL2, COPA, MSMO1, ANTXR2, CANT1, PLOD1, ESR1, MEGF10, NR1I3, IFNG, HLA-DRB1, HNF4A, FMR1, TGFBR1, VCP, SIGMAR1, FKBP14, TMEM173, PIGY, POMT2, TSHR, EXT2, REEP1, PLOD2, TNFRSF1A, CNTN1, PNPLA6, DVL3, DPAGT1, ARNT2, SEC23B, SLC35A3, SNAP25, CTSD, HLA-C, ATL1, CAV3, STIM1, PIGV, ALPL, TRAF3IP1, TNPO3, GJB1, RB1, XYLT2, CDK5, EXT1, POGZ, VWF, TMCO1, CTNS, MC2R, FLNA, CASR, TBC1D20, ANKLE2, VMA21, SLC9A6, ALDH3A2, TRIM2, HRAS, MTOR, NDN, PTHLH, AKT1, TUBB3, VDR, C19orf12, GGCX, IGF1R, WAS, TP53, UBE3A, LRP2, PIEZO1, NOTCH2, LARP7, IHH, EDN1, PSTPIP1, DHCR24, RPS19, SEC24D, BMPR1B, HAMP, SOX10, ERLIN2, STAT3, RUNX2, SUMF1, SERPINF2, SSR4, PIGA, SPTLC2, SLC40A1, PIGN, NGF, MASP1, HNRNPK, SEPN1, ACTG1, IRF6, DPM1, DHCR7, PIGL, KLC2, XYLT1, ANO5, PTPN11, MFSD2A, DVL1, EIF2AK3, TGFB1, SPTLC1, STAT1, SPRY4, TP63, F8, CACNA1C, INSR, EBP, HLA-B, CPT1C, FSHR, ALG1, DNMT1, SPAST, SEC63, SRD5A3, RPL11, ZMPSTE24, L1CAM, INS, PCNA, GBA2, TRH, UCHL1, RET, PEX19, SMC3, TBXAS1, TMEM67, MPDU1, ALG13, COL4A3BP, SMAD3, ALB, HSPG2, GOSR2, SLC35D1, ARSB, TINF2, F10, HFE, REEP2, IER3IP1, PIK3R1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, ACHONDROPLASIA, 46XY SEX REVERSAL 9, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, RETINITIS PIGMENTOSA 64, CONE-ROD DYSTROPHY 16, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, OPITZ GBBB SYNDROME, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 19, DYSAUTONOMIA, FAMILIAL, HYPER-IGE RECURRENT INFECTION SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, MULTIPLE SYNOSTOSES SYNDROME 1, ?MICROHYDRANENCEPHALY, SALLA DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, MUCKLE-WELLS SYNDROME, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, BOHRING-OPITZ SYNDROME, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, BECKWITH-WIEDEMANN SYNDROME, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DIAMOND-BLACKFAN ANEMIA 4, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HAY-WELLS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, EMBERGER SYNDROME, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NOONAN SYNDROME 4, ?JOUBERT SYNDROME 22, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NANCE-HORAN SYNDROME, TARSAL-CARPAL COALITION SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MECKEL SYNDROME 12, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MUENKE SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?SECKEL SYNDROME 4, TUBEROUS SCLEROSIS-1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, EXUDATIVE VITREORETINOPATHY 1, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, ?DYSTONIA 23, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, IMAGE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CHERUBISM, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, SED, MAROTEAUX TYPE, LATERAL MENINGOCELE SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, BRACHYOLMIA TYPE 3, BRACHYDACTYLY, TYPE B2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ADULT SYNDROME, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ARTHROGRYPOSIS, DISTAL, TYPE 8, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, NEMALINE MYOPATHY 5, AMISH TYPE, WIEACKER-WOLFF SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, ?BARDET-BIEDL SYNDROME 11, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SHPRINTZEN-GOLDBERG SYNDROME, NOONAN SYNDROME 7, SCLEROSTEOSIS 2, CENANI-LENZ SYNDACTYLY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, CINCA SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, MARTSOLF SYNDROME, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, MYASTHENIC SYNDROME, CONGENITAL, 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, KINDLER SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ALAGILLE SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, MECKEL SYNDROME 3, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ANDERSEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOCHONDROPLASIA, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ESCOBAR SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?FACIAL CLEFTING, OBLIQUE, 1, GITELMAN SYNDROME, 3MC SYNDROME 1, DYSTONIA-1, TORSION, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, SENIOR-LOKEN SYNDROME 9, HYPEREKPLEXIA HEREDITARY, HEART-HAND SYNDROME, SLOVENIAN TYPE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEOPARD SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, BASAL CELL NEVUS SYNDROME, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?OSTEOGENESIS IMPERFECTA, TYPE X, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, WARBURG MICRO SYNDROME 2, METATROPIC DYSPLASIA, DEJERINE-SOTTAS DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, SADDAN, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, GIANT AXONAL NEUROPATHY-1, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, FANCONI ANEMIA, COMPLEMENTATION GROUP P, LEPRECHAUNISM, MECKEL SYNDROME 10, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, CAPOS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, TEMPLE-BARAITSER SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, LIMB-MAMMARY SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ROBINOW SYNDROME, BRACHYDACTYLY, TYPE A1, D, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, COLE-CARPENTER SYNDROME 1, CORNELIA DE LANGE SYNDROME 3, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYHRE SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), LADD SYNDROME, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SECKEL SYNDROME 1, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, ALSTROM SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, BARAITSER-WINTER SYNDROME 2, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, HUTCHINSON-GILFORD PROGERIA, PSORIASIS 2, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, MENTAL RETARDATION, X-LINKED 99, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, TRIGONOCEPHALY 1, BARDET-BIEDL SYNDROME 16, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, LEUKODYSTROPHY, HYPOMYELINATING, 4, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, BARDET-BIEDL SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PITUITARY DEPENDENT HYPERCORTISOLISM, SECKEL SYNDROME 2, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, PITT-HOPKINS-LIKE SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, JACKSON-WEISS SYNDROME, APERT SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, HOLOPROSENCEPHALY-9, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, JAWAD SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, ?MICROPHTHALMIA, SYNDROMIC 1, GENITOPATELLAR SYNDROME, HYPERPARATHYROIDISM, NEONATAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, PARASTREMMATIC DWARFISM, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, VOHWINKEL SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOCOSTAL DYSOSTOSIS 5, MECKEL SYNDROME 5, WOLCOTT-RALLISON SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MECKEL SYNDROME 4, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, JOUBERT SYNDROME 7, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, ATELOSTEOGENESIS, TYPE III, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2

CA2, SLC34A1, PEX14, DNM2, GJB6, GJB1, SQSTM1, EDNRA, KMT2A, CDK5, HSPB1, NCF1, COL1A1, MAP2K2, NAA10, RAD21, SPATA5, ACTB, ITGB4, FERMT3, IKBKG, PIK3CA, EPCAM, SMARCA4, NRXN1, NGF, F2, AGT, TP63, TUBB, AGTR1, B9D2, NOTCH3, COLQ, KDM1A, PCYT1A, GAN, KAT6B, EDN1, TRAF3IP1, BTK, B2M, SLC17A5, CFL2, ENG, DST, ITGA3, PSTPIP1, RAB7A, TGFBR1, PPP1R15B, MMP1, TRIM32, DES, TGM1, SERPINH1, WNK1, BMP4, CDC73, RPS19, TGFBR2, EMD, PDGFRB, RAB3GAP2, ADCY6, TNNT1, COL13A1, TOR1A, MECOM, GNAI2, LRP6, CHRNG, SPECC1L, KIF1A, MUSK, ACTA1, HERC2, ACE, CRIPT, NF2, CHRND, SCN4A, LIMS2, TRPV4, KRAS, GJA1, ERBB3, DSP, CIITA, BRAF, HLA-C, VAMP1, MYH7, CAPN3, NME1, GPC3, P4HB, IGBP1, PIK3R2, GRID2, GCH1, HS6ST1, DAG1, GLI2, PIGT, CENPF, RYR1, KIF5A, SHANK3, SH3BP2, MET, TAF6, LMNA, CACNA1B, SDCCAG8, GJB2, XRCC4, FZD4, CNTNAP1, NHS, MYO18B, KIF5C, NLRP3, MEGF10, IKBKAP, KCNJ1, MMP13, IFNG, TPM2, RPL5, CDH3, DYNC1H1, RPS17, GLIS3, LRSAM1, SYT2, DSE, FGFR3, TAF1, HSPD1, CUL7, EFTUD2, T, GAD1, GLRA1, SF3B4, MYH3, TALDO1, RPS6KA3, RBBP8, GPHN, DDR2, VCP, SLC6A17, NOTCH1, INS, ABCC8, SNAP25, CARD14, ARHGAP31, PTCH1, CAV3, SLX4, KCNJ11, DVL1, ITGA8, STX16, NDRG1, EP300, IGF1, SMAD4, DVL3, SGCA, CLASP1, CHRNB1, CEP290, ERCC4, COL17A1, RAB3GAP1, HDAC6, GRIP1, CASR, CNTN1, KCNJ2, DMD, CHRNA1, KIF1B, USP9X, ACVR1, RAPSN, BMP2, RPGRIP1L, FLNA, MTOR, NDE1, AKT1, PLEC, TPI1, PRKDC, PPIB, FGFR1, IGF1R, NOTCH2, WAS, TP53, PRKCD, MYH2, ATP1A3, LRP2, DLL4, HOXD10, CBL, FMR1, C8orf37, FERMT1, GLI3, SMC1A, JAG1, CDKN1C, ZBTB16, HSPA9, EFNB1, PTEN, ALMS1, KCNH1, SOX9, TSC1, CHRM3, EIF4A3, ITGA6, KIT, STAT3, RUNX2, PDE4D, CENPJ, ITCH, AHI1, LRP4, AP4M1, ZC4H2, ZFPM2, CHRNE, SMAD3, BIN1, MASP1, FHL1, HNRNPK, PAX3, INPPL1, ACTG1, BMPR1B, ASXL1, TERT, HNRNPA1, KIF14, KLC2, KIF22, IGF2, PTPN11, APTX, PLEKHG5, PIP5K1C, NEFL, DDX58, EIF2AK3, FGF10, TGFB1, CASK, STAT1, SPRY4, NEB, PRKACA, CACNA1C, NOG, INSR, HLA-B, CPT1C, SMARCA2, SOS1, SCARF2, TAF2, BLM, DNMT1, FGFR2, CREBBP, PACS1, TINF2, TNFSF11, PIK3R1, SGCG, NEU1, SCN11A, DOK7, L1CAM, PCNA, BBS4, TRH, PDE6D, RET, SLC9A3R1, GRM1, APC, SMC3, HRAS, HACE1, TMEM67, ITGA7, AP3B1, ADA, HES7, MYH11, SH3PXD2B, ATR, HSPG2, ESR1, RBPJ, SLC12A3, FLNB, SIGMAR1, GATA2, SKI, MMP2

BARAITSER-WINTER SYNDROME 1, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, ADAMS-OLIVER SYNDROME 6, DIAMOND-BLACKFAN ANEMIA 4, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, DIAMOND-BLACKFAN ANEMIA 6, MULTIPLE ENDOCRINE NEOPLASIA IIB, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 2, COLE-CARPENTER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HUTCHINSON-GILFORD PROGERIA, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PARASTREMMATIC DWARFISM, NEMALINE MYOPATHY 5, AMISH TYPE, AURICULOCONDYLAR SYNDROME 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, STROMME SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, TRIGONOCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, ARTHROGRYPOSIS, DISTAL, TYPE 8, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, TYPE 3, SECKEL SYNDROME 2, CINCA SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SHORT SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ADAMS-OLIVER SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, JACKSON-WEISS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, COFFIN-SIRIS SYNDROME 4, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, VAN DEN ENDE-GUPTA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, SADDAN, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, NOONAN SYNDROME 4, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NANCE-HORAN SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, JAWAD SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MUENKE SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, HYPOCHONDROPLASIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, SPONDYLOCOSTAL DYSOSTOSIS 5, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, KOSAKI OVERGROWTH SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, WOLCOTT-RALLISON SYNDROME, MUCKLE-WELLS SYNDROME, METACHONDROMATOSIS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, SED, MAROTEAUX TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, KINDLER SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, RENAL ADYSPLASIA, BRACHYDACTYLY, TYPE A2, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, NOONAN SYNDROME 7, CROUZON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, LADD SYNDROME, HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, APERT SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MASA SYNDROME, CRASH SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ATELOSTEOGENESIS, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

LMNA, DLL4, F2, FGFR1, KMT2A, HSPB1, COL1A1, RAD21, ACTB, IGBP1, CENPF, SMARCA4, RPL5, ATP6V1B2, AGT, CDK5, KDM1A, EDN1, GJA1, MYH7, ENG, DST, KIF1B, ITGA3, MMP1, DNM2, SERPINH1, BMP4, RPS19, SMAD4, MYH3, NHS, CNTNAP1, LRP6, GPHN, RBPJ, KIF1A, PDGFRB, ACTA1, ACE, FGFR3, KRAS, MAP2K2, GPC3, P4HB, PIGT, NOTCH1, DAG1, ITGB4, EDNRA, TAF6, CBL, IFNG, TPM2, TNNT1, RPS17, TGFBR1, SF3B4, BIN1, RBBP8, FERMT1, DDR2, BRAF, INS, SMC3, ARHGAP31, CAV3, LIMS2, ITGA8, IGF1, COL17A1, STAT1, MMP2, FLNA, DMD, BMP2, TUBB, AKT1, PLEC, INPPL1, PRKDC, FHL1, WAS, TP53, PPIB, LRP2, SMC1A, HSPA9, PTEN, TRPV4, CHRM3, ITGA6, KIT, STAT3, TNFSF11, MYH11, NGF, PRKCD, B2M, HNRNPK, KIF22, IGF2, PTPN11, PIP5K1C, EIF2AK3, FGF10, TGFB1, CASK, SPRY4, ESR1, PRKACA, HLA-B, SOS1, SCARF2, DNMT1, FGFR2, SGCG, L1CAM, RET, SNAP25, HRAS, HLA-C, ITGA7, HES7, STX16, HSPG2, NLRP3, FLNB, PIK3R1

AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EMBERGER SYNDROME, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, CZECH DYSPLASIA, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MYOTUBULAR MYOPATHY, X-LINKED, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, CULLER-JONES SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, INTERSTITIAL LUNG AND LIVER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, COLE-CARPENTER SYNDROME 2, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CAMURATI-ENGELMANN DISEASE, DANON DISEASE, DYSAUTONOMIA, FAMILIAL, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, SICKLE CELL ANEMIA, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, AGAMMAGLOBULINEMIA, X-LINKED 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, OTOPALATODIGITAL SYNDROME, TYPE II, ?BARDET-BIEDL SYNDROME 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MYOPATHY, DISTAL, TATEYAMA TYPE, SALLA DISEASE, PAGET DISEASE OF BONE 3, LARON DWARFISM, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, LOWE SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BERGER DISEASE, OSTEOGENESIS IMPERFECTA, TYPE XVII, IMMUNODEFICIENCY 43, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, VAN BUCHEM DISEASE, TYPE 2, MENKES DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, OCCIPITAL HORN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, GALACTOSIALIDOSIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, COWDEN SYNDROME 7, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, LIEBENBERG SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TUBEROUS SCLEROSIS 2, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, EXUDATIVE VITREORETINOPATHY 4, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, RUBINSTEIN-TAYBI SYNDROME, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, DIAMOND-BLACKFAN ANEMIA 6, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, FRANK-TER HAAR SYNDROME, SHORT SYNDROME, ANGELMAN SYNDROME, HEMOPHILIA A, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, EXUDATIVE VITREORETINOPATHY 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, RHEUMATOID ARTHRITIS, AURICULOCONDYLAR SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, OSSEOUS HETEROPLASIA, PROGRESSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACHONDROGENESIS, TYPE IA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, STICKLER SYNDROME, TYPE I, WAARDENBURG SYNDROME, TYPE 3, HERMANSKY-PUDLAK SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {PSORIASIS SUSCEPTIBILITY 1}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, WARBURG MICRO SYNDROME 3, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, TIMOTHY SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HOLOPROSENCEPHALY-9, ?JOUBERT SYNDROME 22, BANNAYAN-RILEY-RUVALCABA SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SED CONGENITA, PITUITARY DEPENDENT HYPERCORTISOLISM, KNIEST DYSPLASIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, OVARIAN DYSGENESIS 1, MECKEL SYNDROME 3, MARINESCO-SJOGREN SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WRINKLY SKIN SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CHERUBISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, [BONE MINERAL DENSITY VARIABILITY 1], POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SIALIC ACID STORAGE DISORDER, INFANTILE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, VON WILLIBRAND DISEASE, TYPE 3, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, WARBURG MICRO SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, 3MC SYNDROME 1, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, DYSTONIA-1, TORSION, KOSAKI OVERGROWTH SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SENIOR-LOKEN SYNDROME 9, HYPEREKPLEXIA HEREDITARY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MYHRE SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, PALLISTER-HALL SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, MASA SYNDROME, CRASH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, BRACHYDACTYLY, TYPE B1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, MARS2, CYBA, HBB, PITX1, WNT5A, HSPB1, NCF1, PRKACA, ACTB, GNAS, CIITA, CTSA, FXN, RPL5, F2, AP4B1, VPS53, AGTR1, OTX2, PRKAR1A, EDN1, TRAF3IP1, BTK, UBB, SLC17A5, KIF1B, RAB7A, TGFBR1, DNM2, HLA-DQA1, PIK3CA, BMP4, WAS, PDGFRB, SMAD4, CAPN3, IKBKAP, OCRL, MAFB, ATP6V0A2, SF3B4, MUSK, ACTA1, SOX9, MFN2, GRIP1, LRP6, SOX2, ERBB3, IL10, FGF9, PTEN, CREBBP, IRF5, FSHR, IGF2, SQSTM1, VMA21, GLI2, GATA2, KIF5A, SH3BP2, COPA, FZD4, CBL, COL2A1, MET, IFNG, HLA-DRB1, VPS33B, AP1S2, GLIS3, SPARC, SYT2, DSE, TGFB3, SLC4A1, HSPD1, NR2F1, ROR2, TMEM173, TSHR, GSC, RAB18, BIN1, AGT, GPHN, VCP, SEC23B, INS, LAMP2, SNAP25, UCHL1, PIGR, GATA1, CAV3, TCIRG1, GJA1, TGFB2, EP300, IGF1, CDK5, DVL3, VWF, GHR, KLC2, HDAC6, LRP5, CASR, DMD, BMP2, ACVR1, TUBB, TRIM2, PTHLH, AKT1, CYBB, PRKDC, TRIP11, IGF1R, PRKCD, TP53, UBE3A, HLA-DQB1, SLC6A17, SH3PXD2B, SLC9A3R1, TOR1A, GLI3, TMEM67, PSTPIP1, GAD1, SIL1, EFNB1, SEC24D, F13A1, CALCR, CRYAB, ITGA6, DYNC1H1, RUNX2, SCYL1, RB1, AHI1, PFKM, GPC3, FLNA, STX16, NGF, MASP1, B2M, HNRNPK, PAX3, ALB, SEC23A, MMP2, PTPN11, RAB23, DDX58, ATP7A, IFT27, TGFB1, CASK, STAT1, STAT3, F8, CACNA1C, INSR, HLA-B, AP4M1, SOS1, DNMT1, PACS1, MARS, RAB3GAP1, PDGFRA, L1CAM, PCNA, PDE6D, RET, VAMP1, CTLA4, SMC3, HRAS, HLA-C, AP2S1, AP3B1, IFT80, ADA, SERPINF2, MYH11, ATR, HSPG2, EXOC8, MEGF10, MTOR, PIK3R1

PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 5B, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3B, LIEBENBERG SYNDROME, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 6B, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LOEYS-DIETZ SYNDROME 3, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, ?SECKEL SYNDROME 4, HEIMLER SYNDROME 2

PITX1, PEX12, PEX1, PEX10, GNPAT, IKBKAP, PEX2, PEX5, HSD17B4, SMAD3, AGPS, PEX19, MAP2K2, BRCA1, PEX14, AGXT, CENPJ, PEX3, PEX6

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EMBERGER SYNDROME, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, CAMURATI-ENGELMANN DISEASE, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, VON WILLIBRAND DISEASE, TYPE 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MARINESCO-SJOGREN SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, OSTEOGENESIS IMPERFECTA, TYPE XVII, HEMOPHILIA A, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ?MYOPATHY, SCAPULOHUMEROPERONEAL, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PROTEUS SYNDROME, SOMATIC

ACTA1, UCHL1, TGFB2, HBB, ERBB3, IGF1, ALB, IGF2, TGFB1, VWF, STAT1, TGFB3, F2, AGT, GATA2, F8, INSR, AKT1, IL10, HSPB1, CRYAB, SPARC, TGFBR1, EP300, SIL1, ADA, SERPINF2, F13A1, CALCR, HSPG2, INS, PTEN

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VERHEIJ SYNDROME, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, ACHONDROPLASIA, 46XY SEX REVERSAL 9, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, CAPOS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CLEFT PALATE, ISOLATED, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CARASIL SYNDROME, TEMTAMY SYNDROME, DANON DISEASE, DYSKERATOSIS CONGENITA, X-LINKED, DYSAUTONOMIA, FAMILIAL, HOLOPROSENCEPHALY-9, SICKLE CELL ANEMIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, LESCH-NYHAN SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, MUCKLE-WELLS SYNDROME, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, GAUCHER DISEASE, TYPE IIIC, HAIM-MUNK SYNDROME, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, SECKEL SYNDROME 7, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, COFFIN-SIRIS SYNDROME 3, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ANGELMAN SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, FLOATING-HARBOR SYNDROME, DIAMOND-BLACKFAN ANEMIA 4, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, GLUTAMINE DEFICIENCY, CONGENITAL, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, HEIMLER SYNDROME 2, BRACHYDACTYLY, TYPE A1, GITELMAN SYNDROME, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, WAARDENBURG SYNDROME, TYPE 4C, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, IMMUNODEFICIENCY 12, CULLER-JONES SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL1], TIMOTHY SYNDROME, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?JOUBERT SYNDROME 22, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, VAN MALDERGEM SYNDROME 2, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?FANCONI RENOTUBULAR SYNDROME 3, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, MUCOPOLYSACCHARIDOSIS VII, TRIGONOCEPHALY 1, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, BRACHYDACTYLY, TYPE E, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, COWDEN SYNDROME 7, MUENKE SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?HIP DYSPLASIA, BEUKES TYPE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, KEUTEL SYNDROME, ABLEPHARON-MACROSTOMIA SYNDROME, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, CRANIOLENTICULOSUTURAL DYSPLASIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, OGDEN SYNDROME, ?SECKEL SYNDROME 4, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, HERMANSKY-PUDLAK SYNDROME 2, C1R/C1S DEFICIENCY, COMBINED, ?DYSTONIA 23, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, IMAGE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CHERUBISM, ASPARTYLGLUCOSAMINURIA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, DESBUQUOIS DYSPLASIA 1, ?MICROHYDRANENCEPHALY, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, METACHONDROMATOSIS, HAY-WELLS SYNDROME, SED, MAROTEAUX TYPE, LATERAL MENINGOCELE SYNDROME, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, CRANIOSYNOSTOSIS, TYPE 2, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, FACTOR XIIIA DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, STICKLER SYNDROME, TYPE III, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 46,XX SEX REVERSAL, TYPE 2, MARFAN LIPODYSTROPHY SYNDROME, HPRT-RELATED GOUT, SYMPHALANGISM, PROXIMAL, 1A, BRACHYOLMIA TYPE 3, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SMED STRUDWICK TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ADULT SYNDROME, ATELOSTEOGENESIS, TYPE I, SHPRINTZEN-GOLDBERG SYNDROME, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BARTTER SYNDROME, TYPE 1, BLAU SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ?MENTAL RETARDATION, X-LINKED 91, MUCOPOLYSACCHARIDOSIS IS, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, PYCNODYSOSTOSIS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE XVII, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, ?BARDET-BIEDL SYNDROME 11, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, BRACHYDACTYLY, TYPE C, ACROMICRIC DYSPLASIA, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?MULTIPLE SYNOSTOSES SYNDROME 3, MYOPATHY, DISTAL, TATEYAMA TYPE, OSTEOGENESIS IMPERFECTA, TYPE IV, GM1-GANGLIOSIDOSIS, TYPE I, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MUSCULAR DYSTROPHY, CONGENITAL, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CINCA SYNDROME, BRACHYDACTYLY, TYPE A1, C, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PARASTREMMATIC DWARFISM, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ALAGILLE SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, HEMOPHILIA A, MULTIPLE SYNOSTOSES SYNDROME 2, AURICULOCONDYLAR SYNDROME 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MARTSOLF SYNDROME, RHEUMATOID ARTHRITIS, ARTHROGRYPOSIS, DISTAL, TYPE 8, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, ACHONDROGENESIS IB, TARSAL-CARPAL COALITION SYNDROME, GAPO SYNDROME, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, BEHR SYNDROME, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), VAN DEN ENDE-GUPTA SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, JOHANSON-BLIZZARD SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CORTISONE REDUCTASE DEFICIENCY 2, COFFIN-LOWRY SYNDROME, GAUCHER DISEASE, TYPE I, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, SCLEROSTEOSIS 1, JOUBERT SYNDROME 10, DIHYDROPYRIMIDINURIA, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, SHWACHMAN-DIAMOND SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, ?INFANTILE LIVER FAILURE SYNDROME 1, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, [BONE MINERAL DENSITY VARIABILITY 1], LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, GALACTOSIALIDOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, SPONDYLOPERIPHERAL DYSPLASIA, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, ?MUCOPOLYSACCHARIDOSIS TYPE IX, APERT SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MEVALONIC ACIDURIA, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, SED CONGENITA, GLYCOGEN STORAGE DISEASE VII, HYPOCHONDROPLASIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, NEU-LAXOVA SYNDROME 1, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, ?PRUNE BELLY SYNDROME, MELEDA DISEASE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, POLYCYSTIC LIVER DISEASE, COMPLEMENT FACTOR I DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, LARSEN SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, SECKEL SYNDROME 1, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, BRANCHIOOCULOFACIAL SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RETINITIS PIGMENTOSA 71, ULNAR-MAMMARY SYNDROME, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, 3MC SYNDROME 1, AVASCULAR NECROSIS OF THE FEMORAL HEAD, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DYSTONIA-1, TORSION, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MECKEL SYNDROME 3, BOWEN-CONRADI SYNDROME, FUHRMANN SYNDROME, HEART-HAND SYNDROME, SLOVENIAN TYPE, CHONDRODYSPLASIA, GREBE TYPE, OSTEOGENESIS IMPERFECTA, TYPE XIII, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ?MICROPHTHALMIA, SYNDROMIC 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, EXUDATIVE VITREORETINOPATHY 1, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 1, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, LEOPARD SYNDROME 1, WARBURG MICRO SYNDROME 3, BARDET-BIEDL SYNDROME 10, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PERRAULT SYNDROME 5, POPLITEAL PTERYGIUM SYNDROME 1, RITSCHER-SCHINZEL SYNDROME 2, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, CEROID LIPOFUSCINOSIS, NEURONAL, 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, WARBURG MICRO SYNDROME 2, METATROPIC DYSPLASIA, DEJERINE-SOTTAS DISEASE, BETA-UREIDOPROPIONASE DEFICIENCY, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?BARDET-BIEDL SYNDROME 19, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, GAUCHER DISEASE, PERINATAL LETHAL, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, TEMPLE-BARAITSER SYNDROME, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, FANCONI ANEMIA, COMPLEMENTATION GROUP A, GIANT AXONAL NEUROPATHY-1, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MECKEL SYNDROME 10, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, DIAMOND-BLACKFAN ANEMIA 6, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, FILS SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, FANCONI RENOTUBULAR SYNDROME 2, ADAMS-OLIVER SYNDROME 6, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOPHOSPHATEMIC RICKETS, AR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, BETHLEM MYOPATHY 1, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, ?DIAMOND-BLACKFAN ANEMIA 11, AYME-GRIPP SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, STIFF SKIN SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, COLD-INDUCED SWEATING SYNDROME 2, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, AL-RAQAD SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, CORNELIA DE LANGE SYNDROME 2, BURN-MCKEOWN SYNDROME, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE B1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, RENAL CYSTS AND DIABETES SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?CHARGE SYNDROME, CHARGE SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, RENAL TUBULAR ACIDOSIS, DISTAL, AD, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, BRACHYDACTYLY, TYPE B2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, FACTOR VII DEFICIENCY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ?SECKEL SYNDROME 8, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, BRACHYDACTYLY, TYPE A1, D, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 13, OROFACIODIGITAL SYNDROME I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, PSORIASIS 2, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, LADD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OCCIPITAL HORN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, FARBER LIPOGRANULOMATOSIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LEUKODYSTROPHY, HYPOMYELINATING, 3, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, THANATOPHORIC DYSPLASIA, TYPE II, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CZECH DYSPLASIA, CARPENTER SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, LYSINURIC PROTEIN INTOLERANCE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, COLE-CARPENTER SYNDROME 1, INTERSTITIAL LUNG AND LIVER DISEASE, MUCOLIPIDOSIS III GAMMA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, GNATHODIAPHYSEAL DYSPLASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, STICKLER SYNDROME, TYPE I, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, HUTCHINSON-GILFORD PROGERIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, VESICOURETERAL REFLUX 8, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, OSTEOGENESIS IMPERFECTA, TYPE VIII, 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, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DIAPHANOSPONDYLODYSOSTOSIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, NOONAN SYNDROME 4, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, LEBER OPTIC ATROPHY AND DYSTONIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, TATTON-BROWN-RAHMAN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DESMOSTEROLOSIS, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, LIEBENBERG SYNDROME, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, DIGITAL CLUBBING, ISOLATED CONGENITAL, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?MECKEL SYNDROME 9, BRUCK SYNDROME 2, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ALKAPTONURIA, NEU-LAXOVA SYNDROME 2, PITT-HOPKINS-LIKE SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, JACKSON-WEISS SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, TUBEROUS SCLEROSIS 2, SYNDACTYLY, TYPE V, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, WAARDENBURG SYNDROME, TYPE 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, PARIETAL FORAMINA 1, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, VAN MALDERGEM SYNDROME 1, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, CHOREOACANTHOCYTOSIS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, HYPEREKPLEXIA HEREDITARY, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, OROFACIODIGITAL SYNDROME IV, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SECKEL SYNDROME 5, ?MYOSCLEROSIS, CONGENITAL, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LEGG-CALVE-PERTHES DISEASE, DENTAL ANOMALIES AND SHORT STATURE, KNIEST DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RAINE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, LATHOSTEROLOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CHILD SYNDROME, EXUDATIVE VITREORETINOPATHY 4, SECKEL SYNDROME 9, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, VOHWINKEL SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, WRINKLY SKIN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, VON WILLIBRAND DISEASE, TYPE 3, WOLCOTT-RALLISON SYNDROME, ?DIAMOND-BLACKFAN ANEMIA 12, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, WEAVER SYNDROME, HEMOCHROMATOSIS, TYPE 4, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, EIKEN SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, PHYTANIC ACID STORAGE DISEASE, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, GM1-GANGLIOSIDOSIS, TYPE III, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, JOUBERT SYNDROME 18, CRANIOSYNOSTOSIS 6, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MECKEL SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, BERGER DISEASE, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SIALURIA, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, CALCIFICATION OF JOINTS AND ARTERIES, VAN BUCHEM DISEASE, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME

CA2, DCHS1, DNA2, HBB, EDNRA, BMP1, HSPB1, PDE4D, EPCAM, GNAS, CIITA, GLI3, COL3A1, RPL5, FTL, GUSB, POLD1, ADAMTS18, TRMT10A, VMA21, PCYT1A, CDC6, B2M, NRAS, NOG, TCTN3, SCARF2, ITGA3, RAB7A, PHF8, SHOC2, WNK1, ARSE, RPS19, TYROBP, TGFBR2, CREBBP, GNE, HGD, MSX2, MAFB, DYNC2H1, MBD5, ALS2, VLDLR, SCN4A, LAMP2, SOX2, ERBB3, B9D2, MYH7, HAMP, IRF5, P4HB, SQSTM1, THRA, DAG1, IKBKG, MTOR, ASAH1, TAF6, CTSA, MEGF8, CBL, NR1I3, COMP, NRXN1, SPARC, AP1S2, NAGLU, SGSH, GALNT3, HSPD1, ACAN, ROR2, T, GAD1, TNNT2, GDF5, C12orf57, DUSP6, FAH, DNMT3A, SMC3, SLC12A1, GATA1, CAV3, BANF1, NCF2, DDR2, SSR4, SUFU, AP4M1, LTBP3, DVL3, UFSP2, CHST14, TAF1, CEP290, C1R, TPM2, HDAC6, TNFSF11, SH3TC2, LAMA3, CTSD, PQBP1, TUBB, NDE1, AKT1, RIPK4, TPI1, PPIB, UBA1, HINT1, TANGO2, UBE3A, SLC6A17, VPS13A, EZH2, TWIST1, NSDHL, ZBTB16, HSPA9, EFNB1, DMP1, IL1RN, MUSK, CALCR, NOD2, MTM1, CUL4B, PIGA, ZFPM2, FGF23, MASP1, FRZB, HNRNPK, LAMC2, LAMA2, PUF60, PTPN11, SPG7, IFT27, STAT3, SPATA5, ENG, HLA-B, SRCAP, HMGB3, DPYS, CTSC, PTRH2, EHHADH, ZMPSTE24, VIPAS39, SNRPB, BCOR, CTNS, LRP2, AP3B1, DHCR24, ALB, TSC1, HRAS, PIGR, ACE, SIGMAR1, PEX5, HPGD, FSHB, PEX14, SEC23A, CYBA, TREX1, WNT5A, TRAIP, NCF1, MMP1, NAA10, MFN2, FERMT3, MOCS2, CACNA1B, COL1A2, AP4B1, COL11A2, TNXB, ZIC1, CCT5, TSR2, MTAP, UBE2A, IDUA, KMT2A, COL6A1, DNASE1, LRBA, IKBKAP, NPR2, PROK2, NEK8, DES, ROBO3, SOS1, GALNS, CDC73, EMD, USP8, INPP5E, CAPN3, HSD11B1, CLCN7, KIF1A, OCRL, SOX9, TGFB2, MMP2, MAP2K2, TFAP2A, CYP7B1, GBE1, FSHR, TRPV4, ANO5, SGCA, NOTCH1, AGPAT2, MYCN, NAGA, GNS, PITX1, P3H1, EGR2, AARS, CFL2, FZD4, MYO18B, KIF5C, COL17A1, GK, SPINT2, CRYAB, KLC2, VPS33B, LRP5, CCDC22, KAT6B, GPX4, FGFR3, HARS, NLRC4, FANCA, RB1, RAB18, GPHN, BRAF, SNAP25, LAMB3, MALT1, ORC4, COL18A1, ALPL, GNPTG, ITGA8, FOLR1, IGF1, PLEC, NF2, CBS, CHAT, UBR1, SC5D, GMPPB, NIN, BMP2, ALDH3A2, MFAP5, NDN, TNFRSF11B, KL, SLC5A7, VDR, FGFR1, FIBP, TP53, HLA-C, ARL6IP1, SMC1A, PSTPIP1, MYH2, FREM2, UMOD, KCNH1, MAF, ANTXR1, TXNL4A, ITGA6, DYNC1H1, MT-ND3, CENPJ, PTEN, CLCF1, COL6A2, SLC26A2, CYBB, AIMP1, PLS3, SLC12A6, FBLN1, ACTG1, ASXL1, B3GAT3, ITGB4, SOST, PIP5K1C, DVL1, MTR, EMG1, SPTLC1, STAT1, EXOC8, F8, CACNA1C, SLC34A1, IGF1R, COL6A3, KARS, BLM, DNMT1, NIPBL, TINF2, WDR60, SHMT1, OFD1, PCNA, NEFL, AGA, APC, FLNB, TMEM67, AP2S1, MGP, SMAD3, HSPG2, NLRP3, DDX58, C10orf2, F10, LMNA, F2, TNFRSF1A, MYH14, SALL1, RAD21, F7, BRCA2, IGBP1, CENPF, TBC1D7, HEXB, EFTUD2, RPS26, ATP6V1B2, AGT, PMM2, GNAI3, CDK5, TRAPPC2, KDM1A, RBMX, IRX5, NEB, ECE1, STK11, IL10, FMR1, NDRG1, CDKN1C, PDE6D, PPP1R15B, RPL15, COL1A1, FANCM, PLEKHG5, PIK3CA, LTBP4, BMPER, JAG1, HNRNPA1, SBDS, GRID2, COL2A1, RBPJ, NF1, FAT4, ACTA1, VRK1, ACTB, GRIP1, NT5C2, SMARCA4, DSP, TWIST2, LZTR1, IGF2, GGCX, PIGT, NOTCH2, SLURP1, MAPT, GATA2, KIF5A, SHANK3, SH3BP2, MET, MOGS, NTRK1, MSMO1, CEP152, PLOD1, PLOD3, PSMB8, NFKBIL1, APTX, MMP13, KIT, RPS17, TNNT1, PFKM, DSE, NR2F1, FKBP14, TMEM173, TSHR, ESR1, SCYL1, GSC, TALDO1, RPS6KA3, TFG, INS, PAM16, PIK3R2, COL7A1, FCGR2A, GNB4, DDX3X, DKC1, SMPD1, TNPO3, HSD17B10, AGTR1, SDHD, PAX2, LMX1B, HLA-DRB1, KRAS, CNTN1, CARD14, RAB33B, TP63, ASCC1, SLC9A6, ACVR1, RAPSN, ARL6, KIF1B, LTBP2, CHMP1A, BRCA1, PTHLH, TUBB3, BIN1, SMS, RUNX2, FBN1, PHGDH, IHH, HNRNPDL, EDN1, TERT, TTN, ABCG2, NONO, F13A1, PAX3, SLC9A3R1, DST, BTK, EHMT1, AHI1, SERPINC1, SLC40A1, SMARCB1, PRKCD, UBB, CHEK2, STAMBP, MT-ND4, B9D1, PRKCSH, MED25, TNFAIP3, ATP7A, FGF10, TGFB1, REN, DMD, UPK3A, WAS, POMT1, POLE, RBCK1, HERC2, PPT1, GBA, SGCG, RAB3GAP1, ABCC9, RPL26, PLOD2, TRH, DCPS, GRM1, PTH1R, ABCC8, CRB2, PEX6, POLG, EIF2AK3, SFTPC, SERPINF2, HTRA1, BAG3, IRF6, SLC12A3, KIF1BP, REEP2, ARSB, FUCA1, DLL4, FAM20C, KISS1, ORC1, NT5E, DNM2, ALG2, ACP5, GLB1, TBX3, MUC5B, COL5A1, OTX2, PRKAR1A, PHYH, GAN, KISS1R, HPRT1, SOX10, MAN2B1, RAB3GAP2, MT-ND1, EFEMP2, CLASP1, HNF1B, NEU1, TGM1, TRIM32, BMP4, ERCC2, PDGFRB, MTMR2, SMAD4, GHSR, HLA-DQA1, ATP6V0A2, FGD1, PTCH1, WNT7A, CTSK, CECR1, FBLN5, GLI2, HOXD10, PACS1, WRN, CDAN1, GLUL, TPM3, SDHB, GARS, LIFR, CANT1, COPA, GNAI2, HS6ST1, UCHL1, RPL11, IFNG, PRX, YARS, PDGFRA, TGFBR1, EP300, SLC4A1, THRB, NOTCH3, SF3B4, SLC7A7, SEC23B, LRP6, PAX8, LARS, GPC3, BICD2, GJA1, UPB1, SMARCA2, MYH3, HNF4A, RPS28, VWF, PEX19, MECP2, MVK, PADI4, TNNT3, CASR, CTLA4, GCK, CHRNA1, TSC2, BBS10, CCND2, SCN11A, HYAL1, PRKDC, VCP, CFI, ATP1A3, ABCA12, TOR1A, COASY, PSAT1, ITCH, SIL1, SEMA3E, ZDHHC15, FGF9, ADA, CHRM3, INPPL1, ERLIN2, GJB1, SUMF1, GLE1, NME1, FLNA, MYH11, NGF, RAB23, GJB2, ATR, ENTPD1, SPG11, CASK, EXT2, PRKACA, FXN, INSR, IFT172, AKT3, SERPINH1, FGFR2, CNTNAP1, PLCG2, SPAST, MARS, GLA, GCH1, FANCC, L1CAM, OPA1, PRSS23, RET, TBX6, MTRR, HACE1, HOXD13, EXOSC3, ITGA7, MPDU1, COL4A3BP, STX16, ADCY6, BMPR1B, GOSR2, HFE, RYR1, PIK3R1

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MULTIPLE SULFATASE DEFICIENCY, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, CEROID LIPOFUSCINOSIS, NEURONAL, 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MUCOPOLYSACCHARIDOSIS IS, DANON DISEASE, FARBER LIPOGRANULOMATOSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FUCOSIDOSIS, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, RENAL TUBULAR DYSGENESIS, HAIM-MUNK SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FEINGOLD SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PITUITARY DEPENDENT HYPERCORTISOLISM, CATSHL SYNDROME, NEUROFIBROMATOSIS, TYPE 1, ANGELMAN SYNDROME, HEMOPHILIA A, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, GALACTOSIALIDOSIS, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, CARPENTER SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SADDAN, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, ARTHROGRYPOSIS, DISTAL, TYPE 8, CORNELIA DE LANGE SYNDROME 4, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ?MUCOPOLYSACCHARIDOSIS TYPE IX, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, ESTROGEN RESISTANCE, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MUENKE SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, SPLIT-HAND/FOOT MALFORMATION 4, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, ASPARTYLGLUCOSAMINURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, HAY-WELLS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, PAGET DISEASE OF BONE 3, ADULT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, LADD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

FUCA1, MMP2, RAD21, SPATA5, ACTB, FERMT3, CTSA, AP2S1, AGT, AGTR1, VMA21, BTK, MYH7, MAN2B1, LRBA, RAB7A, NEU1, PIK3CA, BMP4, MYH3, GNAI2, TGFB2, FGFR3, SMARCA4, ERBB3, IRF5, SQSTM1, HYAL1, MYCN, CTSC, NAGA, MTOR, ASAH1, HEXB, CBL, STAT1, TNNT1, DYNC1H1, NAGLU, VPS33B, NCF2, TAF1, TP63, INS, SNAP25, NCF1, GLB1, GJA1, IGF1, DVL3, GNS, CTNS, PAX2, HLA-DRB1, HDAC6, CASR, CTSD, BRCA1, AKT1, CYBB, DVL1, TP53, UBE3A, HLA-C, ARSB, NF1, LAMP2, ACP5, IDUA, KIT, SUMF1, NME1, NGF, RAB23, B2M, PAX3, NTRK1, AP4M1, TNFAIP3, VCP, AP3B1, TGFB1, SPTLC1, SPRY4, STAT3, F8, HLA-B, AKT3, PPT1, GLA, L1CAM, PCNA, UCHL1, AGA, HRAS, LRP2, SFTPB, ADA, ALB, HSPG2, EXOC8, ESR1, TINF2

[URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), VERHEIJ SYNDROME, PEROXISOME BIOGENESIS DISORDER 5B, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, BARTTER SYNDROME, TYPE 2, ACHONDROPLASIA, BARDET-BIEDL SYNDROME 16, 46XY SEX REVERSAL 9, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MULTIPLE SULFATASE DEFICIENCY, CLEFT PALATE, ISOLATED, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, RETINITIS PIGMENTOSA 64, CONE-ROD DYSTROPHY 16, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, COLE-CARPENTER SYNDROME 2, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, DANON DISEASE, DYSKERATOSIS CONGENITA, X-LINKED, DYSAUTONOMIA, FAMILIAL, BARDET-BIEDL SYNDROME 17, HOLOPROSENCEPHALY-9, SICKLE CELL ANEMIA, BRUCK SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, MULTIPLE SYNOSTOSES SYNDROME 1, SALLA DISEASE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LARON DWARFISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, HEMOCHROMATOSIS, TYPE 2A, GAUCHER DISEASE, TYPE IIIC, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, NASU-HAKOLA DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, CORNELIA DE LANGE SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, LEOPARD SYNDROME 1, HELSMOORTEL-VAN DER AA SYNDROME, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, OCCIPITAL HORN SYNDROME, RAPADILINO SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, FRANK-TER HAAR SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, KBG SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, SPLIT-HAND/FOOT MALFORMATION 6, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, EXUDATIVE VITREORETINOPATHY 1, DIAMOND-BLACKFAN ANEMIA 4, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LEUKODYSTROPHY, HYPOMYELINATING, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, ?TETRA-AMELIA SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, WOLFRAM SYNDROME, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, JOUBERT SYNDROME 15, GLUTAMINE DEFICIENCY, CONGENITAL, JOUBERT SYNDROME 13, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, HEIMLER SYNDROME 2, BRACHYDACTYLY, TYPE A1, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, WAARDENBURG SYNDROME, TYPE 4C, KEPPEN-LUBINSKY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, CULLER-JONES SYNDROME, KAHRIZI SYNDROME, PELGER-HUET ANOMALY, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, KLEEFSTRA SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL1], TIMOTHY SYNDROME, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ?JOUBERT SYNDROME 22, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, GHOSAL HEMATODIAPHYSEAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE V, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, SMITH-MCCORT DYSPLASIA 2, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NANCE-HORAN SYNDROME, ?WEBB-DATTANI SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MECKEL SYNDROME 12, ?FANCONI RENOTUBULAR SYNDROME 3, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, MUCOPOLYSACCHARIDOSIS VII, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, BRACHYDACTYLY, TYPE E, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, COWDEN SYNDROME 7, MUENKE SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?HIP DYSPLASIA, BEUKES TYPE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, GLYCOGEN STORAGE DISEASE IC, NICOLAIDES-BARAITSER SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, CORNELIA DE LANGE SYNDROME 5, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, SYNDACTYLY, TYPE V, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, CRANIOLENTICULOSUTURAL DYSPLASIA, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, WRINKLY SKIN SYNDROME, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), C1R/C1S DEFICIENCY, COMBINED, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, CHERUBISM, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SMITH-MAGENIS SYNDROME, DESBUQUOIS DYSPLASIA 1, ?MICROHYDRANENCEPHALY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, DYSTONIA 24, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, MUSCULAR DYSTROPHY, RIGID SPINE, 1, METACHONDROMATOSIS, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, HAY-WELLS SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, LATERAL MENINGOCELE SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, CRANIOSYNOSTOSIS, TYPE 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, SIALIC ACID STORAGE DISORDER, INFANTILE, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, OPITZ-KAVEGGIA SYNDROME, FACTOR XIIIA DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, ROUSSY-LEVY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, MYOCLONIC-ATONIC EPILEPSY, NOONAN SYNDROME 7, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, STICKLER SYNDROME, TYPE III, CAUDAL REGRESSION SYNDROME, CURRARINO SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 46,XX SEX REVERSAL, TYPE 2, MARFAN LIPODYSTROPHY SYNDROME, SYMPHALANGISM, PROXIMAL, 1A, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), WHITE-SUTTON SYNDROME, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, BRACHYOLMIA TYPE 3, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, BRACHYDACTYLY, TYPE B2, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, COLE DISEASE, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SMED STRUDWICK TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, PITUITARY DEPENDENT HYPERCORTISOLISM, TARP SYNDROME, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, WEAVER SYNDROME, BLAU SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, FACTOR VII DEFICIENCY, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ARTHROGRYPOSIS, DISTAL, TYPE 8, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, PYCNODYSOSTOSIS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE XVII, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, BRACHYDACTYLY, TYPE C, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, CEREBROTENDINOUS XANTHOMATOSIS, SHPRINTZEN-GOLDBERG SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?MULTIPLE SYNOSTOSES SYNDROME 3, CENANI-LENZ SYNDACTYLY SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, OSTEOGENESIS IMPERFECTA, TYPE IV, GM1-GANGLIOSIDOSIS, TYPE I, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OMODYSPLASIA 1, MECKEL SYNDROME 11, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, C SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CUTIS LAXA, AUTOSOMAL DOMINANT 3, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, BRACHYDACTYLY, TYPE A1, C, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PARASTREMMATIC DWARFISM, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, ?RENAL HYPODYSPLASIA/APLASIA 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, WARSAW BREAKAGE SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, FANCONI ANEMIA, COMPLEMENTATION GROUP O, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, PEROXISOME BIOGENESIS DISORDER 6B, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OSTEOGENESIS IMPERFECTA, TYPE XV, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, ACHONDROGENESIS IB, TARSAL-CARPAL COALITION SYNDROME, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, BEHR SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, MUCOLIPIDOSIS III ALPHA/BETA, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, JOHANSON-BLIZZARD SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SADDAN, FLOATING-HARBOR SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, GAUCHER DISEASE, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JOUBERT SYNDROME 10, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, MECKEL SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, [BONE MINERAL DENSITY VARIABILITY 1], PARIETAL FORAMINA 1, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MYASTHENIC SYNDROME, CONGENITAL, 5, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, ?OSTEOGENESIS IMPERFECTA, TYPE XII, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, FANCONI ANEMIA, COMPLEMENTATION GROUP T, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, KINDLER SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, SPONDYLOPERIPHERAL DYSPLASIA, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, CHIME SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MUSCULAR DYSTROPHY, CONGENITAL, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, MECKEL SYNDROME 3, ALAZAMI SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ANDERSEN SYNDROME, HEMOPHILIA A, LUSCAN-LUMISH SYNDROME, IMMUNODEFICIENCY 23, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, DESBUQUOIS DYSPLASIA 2, MEVALONIC ACIDURIA, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, SED CONGENITA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5, VAN BUCHEM DISEASE, TYPE 2, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, HYPOCHONDROPLASIA, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, SED, MAROTEAUX TYPE, CHOPS SYNDROME, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, CZECH DYSPLASIA, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, POLYCYSTIC LIVER DISEASE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BARDET-BIEDL SYNDROME 5, HYALINE FIBROMATOSIS SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, LARSEN SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ESCOBAR SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, RENAL TUBULAR ACIDOSIS, DISTAL, AR, GELEOPHYSIC DYSPLASIA 2, CAFFEY DISEASE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, GNATHODIAPHYSEAL DYSPLASIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, COMPLEMENT FACTOR I DEFICIENCY, ULNAR-MAMMARY SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, 3MC SYNDROME 1, ?DIAMOND-BLACKFAN ANEMIA 12, ALLAN-HERNDON-DUDLEY SYNDROME, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, GREENBERG SKELETAL DYSPLASIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DYSTONIA-1, TORSION, GLYCOGEN STORAGE DISEASE VII, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, BOWEN-CONRADI SYNDROME, VAN MALDERGEM SYNDROME 2, SENIOR-LOKEN SYNDROME 9, FUHRMANN SYNDROME, HEART-HAND SYNDROME, SLOVENIAN TYPE, CHONDRODYSPLASIA, GREBE TYPE, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, AGAMMAGLOBULINEMIA, X-LINKED 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CPT II DEFICIENCY, LETHAL NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, CHONDROCALCINOSIS 2, WARBURG MICRO SYNDROME 3, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, BASAL CELL NEVUS SYNDROME, BECKWITH-WIEDEMANN SYNDROME, BARAITSER-WINTER SYNDROME 1, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, CRANIOFRONTONASAL DYSPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, PEUTZ-JEGHERS SYNDROME, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, WILSON DISEASE, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, PERRAULT SYNDROME 5, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, COCKAYNE SYNDROME, TYPE B, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, CEROID LIPOFUSCINOSIS, NEURONAL, 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HAJDU-CHENEY SYNDROME, 3-M SYNDROME 3, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, LIMB-MAMMARY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, WARBURG MICRO SYNDROME 2, METATROPIC DYSPLASIA, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), DENT DISEASE, DEJERINE-SOTTAS DISEASE, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, SECKEL SYNDROME 9, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?BARDET-BIEDL SYNDROME 19, EPISODIC ATAXIA/MYOKYMIA SYNDROME, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?INFANTILE LIVER FAILURE SYNDROME 1, CATSHL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VIII, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), IMMUNODEFICIENCY 43, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, GAUCHER DISEASE, PERINATAL LETHAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, TEMPLE-BARAITSER SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HARTSFIELD SYNDROME, MENKES DISEASE, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, SITOSTEROLEMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, FANCONI ANEMIA, COMPLEMENTATION GROUP A, GIANT AXONAL NEUROPATHY-1, ANGELMAN SYNDROME, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BARDET-BIEDL SYNDROME 7, LEPRECHAUNISM, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MECKEL SYNDROME 10, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, CAPOS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, HYDROLETHALUS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, FILS SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, ADAMS-OLIVER SYNDROME 6, MARTSOLF SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, SCLEROSTEOSIS 2, HYPOPHOSPHATEMIC RICKETS, AR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, BETHLEM MYOPATHY 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?DIAMOND-BLACKFAN ANEMIA 11, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, ?SECKEL SYNDROME 4, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, STIFF SKIN SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, COLD-INDUCED SWEATING SYNDROME 2, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CRANIOECTODERMAL DYSPLASIA 1, {PSORIASIS SUSCEPTIBILITY 1}, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, CORNELIA DE LANGE SYNDROME 2, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, VITAMIN D-DEPENDENT RICKETS, TYPE I, HAIM-MUNK SYNDROME, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, COFFIN-SIRIS SYNDROME 4, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, ?LAURENCE-MOON SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, JOUBERT SYNDROME 14, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE B1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, OLMSTED SYNDROME, MARINESCO-SJOGREN SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, BERGER DISEASE, DUANE-RADIAL RAY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CEREBELLOFACIODENTAL SYNDROME, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, ALAGILLE SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, RENAL TUBULAR ACIDOSIS, DISTAL, AD, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEIER-GORLIN SYNDROME 4, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, NEPHRONOPHTHISIS 15, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, FAMILIAL MEDITERRANEAN FEVER, AD, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, BARDET-BIEDL SYNDROME 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ?SECKEL SYNDROME 8, GLYCOGEN STORAGE DISEASE IA, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, YUNIS-VARON SYNDROME, BRACHYDACTYLY, TYPE A1, D, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HYPEROXALURIA, PRIMARY, TYPE 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ?MICROPHTHALMIA, SYNDROMIC 13, OROFACIODIGITAL SYNDROME I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ACROMICRIC DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 4, AICARDI-GOUTIERES SYNDROME 5, CONGENITAL DISORDER OF DEGLYCOSYLATION, HYPOPHOSPHATEMIC RICKETS, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, LADD SYNDROME, ARTERIAL TORTUOSITY SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, FARBER LIPOGRANULOMATOSIS, OHDO SYNDROME, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), MOHR-TRANEBJAERG SYNDROME, MICROCEPHALY, AMISH TYPE, APERT SYNDROME, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MYOPATHY, MYOFIBRILLAR, 3, LEUKODYSTROPHY, HYPOMYELINATING, 3, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, STAR SYNDROME, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, THANATOPHORIC DYSPLASIA, TYPE II, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 6, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, JOUBERT SYNDROME 20, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, LYSINURIC PROTEIN INTOLERANCE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MUCOLIPIDOSIS II ALPHA/BETA, CHONDRODYSPLASIA, BLOMSTRAND TYPE, GALLOWAY-MOWAT SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CEREBROCOSTOMANDIBULAR SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, COLE-CARPENTER SYNDROME 1, INTERSTITIAL LUNG AND LIVER DISEASE, MUCOLIPIDOSIS III GAMMA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MEIER-GORLIN SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, GITELMAN SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, PSORIASIS 2, MYOPATHY, TUBULAR AGGREGATE, 1, LYMPHEDEMA, HEREDITARY, III, MILLER SYNDROME, 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, PAGET DISEASE OF BONE 3, AURICULOCONDYLAR SYNDROME 3, CHILBLAIN LUPUS, STROMME SYNDROME, MENTAL RETARDATION, X-LINKED 99, JOUBERT SYNDROME 16, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, PETERS-PLUS SYNDROME, BURN-MCKEOWN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DIAPHANOSPONDYLODYSOSTOSIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, ADULT SYNDROME, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, LEBER OPTIC ATROPHY AND DYSTONIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 3B, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, BARDET-BIEDL SYNDROME 8, ABLEPHARON-MACROSTOMIA SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BARDET-BIEDL SYNDROME 4, COENZYME Q10 DEFICIENCY, PRIMARY, 7, TATTON-BROWN-RAHMAN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DESMOSTEROLOSIS, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, LIEBENBERG SYNDROME, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, DIGITAL CLUBBING, ISOLATED CONGENITAL, FEINGOLD SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, RUBINSTEIN-TAYBI SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, MEIER-GORLIN SYNDROME 3, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, LUJAN-FRYNS SYNDROME, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?MECKEL SYNDROME 9, BRUCK SYNDROME 2, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ROTHMUND-THOMSON SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, PITT-HOPKINS-LIKE SYNDROME 2, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, JACKSON-WEISS SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, ARTHROGRYPOSIS, DISTAL, TYPE 2A, HYPER-IGD SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XI, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, ACHONDROGENESIS, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, WAARDENBURG SYNDROME, TYPE 3, GALACTOSIALIDOSIS, TRIGONOCEPHALY 1, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, HYPEREKPLEXIA HEREDITARY, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, BARTTER SYNDROME, TYPE 1, OSTEOGLOPHONIC DYSPLASIA, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, NIEMANN-PICK DISEASE, TYPE A, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, ?BARDET-BIEDL SYNDROME 11, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, CORNELIA DE LANGE SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, WARBURG MICRO SYNDROME 4, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, TROYER SYNDROME, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SECKEL SYNDROME 5, ?MYOSCLEROSIS, CONGENITAL, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LEGG-CALVE-PERTHES DISEASE, AURICULOCONDYLAR SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?APLASIA CUTIS CONGENITA, NONSYNDROMIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, MENTAL RETARDATION, X-LINKED 21/34, CHONDROSARCOMA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, A, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, LATHOSTEROLOSIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CHILD SYNDROME, EXUDATIVE VITREORETINOPATHY 4, BARDET-BIEDL SYNDROME 13, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, PCWH SYNDROME, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, VOHWINKEL SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, WILSON-TURNER SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, VON WILLIBRAND DISEASE, TYPE 3, WOLCOTT-RALLISON SYNDROME, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, HEMOCHROMATOSIS, TYPE 4, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), EIKEN SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PHYTANIC ACID STORAGE DISEASE, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, GM1-GANGLIOSIDOSIS, TYPE III, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SCHNECKENBECKEN DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MECKEL SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, BARDET-BIEDL SYNDROME 9, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CODAS SYNDROME, KABUKI SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, CALCIFICATION OF JOINTS AND ARTERIES, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME

CA2, TSC2, RPL5, DNA2, SQSTM1, FGFR1, BMP1, HSPB1, LMNA, NGLY1, ACADS, DNM2, LBR, GNAS, WNT5A, CIITA, GLI3, COL3A1, PTPN22, ANO3, FTL, F2, GUSB, ENPP1, TP63, B3GAT3, SDHA, BBS5, HBB, ALG3, CASR, PCYT1A, CDC6, TRIP4, B2M, SLC17A5, ENG, DST, ITGA3, DPM2, ERCC6, JPH1, FAM58A, HPGD, G6PC, POMGNT1, AGXT, WNK1, ARSE, RPS19, TYROBP, PEX2, SBF1, ANKLE2, RAB7A, CREBBP, GNE, P3H1, MYO18B, MAFB, EPCAM, DYNC2H1, SLC7A7, CDKN1C, EVC, MYOT, VLDLR, ATRX, SCN4A, LAMP2, KL, ERBB3, B9D2, NALCN, MYH7, HAMP, IRF5, LONP1, SLC39A8, IGBP1, DNMT3A, THRA, TNNI2, DAG1, GLI2, IKBKG, MTOR, ASAH1, MT-ND6, CASK, MGAT2, CTSA, WNT3, PTDSS1, ORC6, CANT1, CBL, SMARCE1, KCNJ1, TALDO1, CEP164, GPC6, EFTUD2, SPARC, AP1S2, VPS33B, GALNT3, UBR1, HSPD1, ROR2, T, GAD1, TNNT2, GDF5, ANKRD11, PNPLA6, DUSP6, AHI1, DEAF1, SMC3, ALDH3A2, SLC12A1, GATA1, CAV3, BANF1, TGFBR1, KCNJ6, SLC35A2, SSR4, SUFU, AP4M1, XYLT2, SETD2, GNPTAB, DVL3, UFSP2, CHST14, TMCO1, TAF1, CEP290, C1R, SLC35A3, TPM2, HDAC6, TNFSF11, SH3TC2, CTDP1, CTSD, SOX9, PQBP1, VMA21, IL1RAPL1, TUBB, TCTN1, UMOD, FLVCR1, DDR2, RIPK4, CPT2, INPPL1, AIP, PPIB, UBA1, HINT1, TANGO2, UBE3A, CHRNA1, SH3PXD2B, LARP7, AGPS, EZH2, TWIST1, NSDHL, SLC19A1, SLC29A3, AARS, ARL6, HSPA9, ORC1, EFNB1, DMP1, IL1RN, MUSK, CALCR, NOD2, IL17RD, MTM1, REEP1, IFT122, CHST3, PLEC, CUL4B, PIGN, SPTLC2, FGF23, TRIP11, MASP1, FRZB, PMP22, SEPN1, UNC80, PIGA, UBE2A, LAMA2, SEC23A, NONO, PTPN11, MSX2, PEX12, MAPRE2, SPG7, IFT27, SPRY4, STAT3, SPATA5, AP4S1, NOG, HLA-B, MED25, HMGB3, RBM28, ALG1, SDHD, FKTN, CTSC, PTRH2, EHHADH, NEU1, GPX4, SNRPN, SNRPB, SLC6A8, GLRA1, CTNS, BRAT1, LRP6, POMK, FANCL, TMEM138, ATP7A, DHCR24, COX7B, NCF1, PHF8, ALB, FGF10, TSC1, HRAS, PIGR, ACE, SIGMAR1, PEX5, WNT10B, FSHB, PEX14, FANCM, GJB6, TREX1, IRX5, TRAIP, SEC24D, MMP1, MAP2K2, MKS1, SBF2, FERMT3, CACNA1B, RAI1, GBA2, ALPL, B3GLCT, AP4B1, COL11A2, COX6A1, CCT5, LRBA, TTC8, ACAN, BMP2, SLC2A2, G6PC3, ADGRG6, COL6A1, FGF20, BBS1, IKBKAP, BAG3, PROK2, NEK8, DES, CDT1, PCNT, COG6, CYP11B1, CDC73, POR, SETD5, PGM3, EMD, DLL4, INPP5E, NHS, HSD11B1, CLCN7, CUL7, SF3B4, TGFBR2, FIG4, FGFR2, SLC33A1, SHOC2, TNNT3, SCN11A, ABCC6, HLA-C, TFAP2A, CYP7B1, NME1, SP7, TRPV4, ANO5, TMEM231, SGCA, NOTCH1, MYCN, PTRF, FKRP, IL11RA, ITGB4, FAM126A, PITX1, EGR2, SNIP1, CFL2, AFF4, EXOSC8, KIF5C, COL17A1, GK, CRYAB, ADAMTS10, RBM10, KLC2, CDH3, NRAS, ZMPSTE24, SYT2, HARS, ANO10, TCIRG1, SLC6A17, FZD4, ACTB, RB1, RAB18, GPHN, BMS1, BRAF, SNAP25, DMD, MALT1, MED12, STIM1, B4GALT7, DPH1, GNPTG, SMAD4, ITGA8, FOLR1, NDRG1, IGF1, TREM2, DNAJB6, F13A1, CBS, VAMP1, GHR, CYP27B1, SC5D, TXNL4A, GMPPB, TAZ, ABCG5, UBE2T, B4GALNT1, KCNJ5, ANKH, CRB2, NDN, CCDC8, OSTM1, SOX2, KANSL1, VDR, NAGLU, FRAS1, HLA-DQB1, SLC16A2, LRP2, ARL6IP1, PRKCD, C8orf37, SMC1A, LMNB2, PSTPIP1, PSMB8, HK1, NIPA1, FREM2, LZTR1, KCNH1, MAF, SLC5A7, ITGA6, DYNC1H1, MT-ND3, CENPJ, SERPINF2, CLCF1, PEX1, COL6A2, SLC26A2, SACS, CHRNE, CYBB, AIMP1, PLS3, SLC12A6, FBLN1, ACTG1, ASXL1, PRKCSH, AKT1, KIF22, P4HB, HYLS1, MFSD2A, COLQ, KMT2D, DDX58, EIF2AK3, EMG1, SPTLC1, STAT1, ZFYVE26, EXOC8, TBCE, CACNA1C, SLC34A1, RECQL4, COL6A3, PEX3, BLM, DNMT1, LRP4, TRIM37, LRP5, PEX10, SHMT1, OFD1, PCNA, NEFL, APC, FLNB, PMPCA, CTSK, AP2S1, MAPT, ADA, REEP2, SMAD3, ALDH18A1, HSPG2, C19orf12, SKI, C10orf2, PDE4D, PHEX, TNFRSF1A, MYH14, SLC25A46, SALL1, RAD21, SDHC, F7, CYP27A1, CENPF, TBC1D7, HEXB, NRXN1, RPS26, ATP6V1B2, AGT, VPS53, GNAI3, TAF6, CDK5, TRAPPC2, NOTCH3, KDM1A, PLEKHG5, RBMX, KMT2A, EIF4A3, SOS1, NEB, ECE1, STK11, IL10, FMR1, SALL4, SLC37A4, PDE6D, SEPSECS, PPP1R15B, RPL15, KISS1, COL10A1, BBS2, PIK3CA, BMPER, JAG1, HNRNPA1, TNFRSF11B, NAA10, GRID2, COL2A1, RBPJ, NF1, ARNT2, ACTA1, VRK1, EDNRA, MFN2, GRIP1, NT5C2, SMARCA4, DSP, TWIST2, SLC2A10, COQ4, FIBP, CLCN5, GPC3, SURF1, IGF2, GGCX, ANOS1, PIGT, NOTCH2, CECR1, NR1I3, LAMC2, GATA2, KIF5A, SHANK3, SH3BP2, MPL, MET, MOGS, NTRK1, COL1A2, HNRNPK, MSMO1, CEP152, PLOD1, PLOD3, ORAI1, HGSNAT, APTX, MMP13, POGZ, KARS, LRSAM1, KIT, IMPAD1, GLIS3, TNNT1, PFKM, DSE, ABCG8, NR2F1, FKBP14, TMEM173, BBS7, TSHR, ESR1, SCYL1, GSC, RPS17, SLC22A4, RPS6KA3, WAS, ERCC8, VCP, INS, PAM16, PIK3R2, TMEM237, COL7A1, FCGR2A, GNB4, ATL1, DDX3X, DKC1, SMPD1, CD96, DDX41, HSD17B10, VPS37A, EXT1, SLC25A19, SDCCAG8, LMX1B, HLA-DRB1, KRAS, CNTN1, TGFB1, BICD2, ASCC1, HNF4A, ACVR1, RAPSN, UQCC2, LEMD3, CHMP1A, BRCA1, PTHLH, ATL3, CYBA, TUBB3, BIN1, FHL1, FOXC2, COL18A1, MNX1, MYH2, FBN1, MT-ND1, USP9X, IHH, ORC4, POLD1, KISS1R, TMEM165, TINF2, RAD51C, ABCG2, PTEN, FGFR3, PAX3, SLC9A3R1, LZTFL1, AMER1, SOX10, CHRND, EHMT1, FAH, SERPINC1, SLC40A1, SMARCB1, HDAC8, UBB, CHEK2, STAMBP, MT-ND4, B9D1, MMP2, CENPE, TNFAIP3, IGHMBP2, AP3B1, WNT1, XYLT1, REN, UPK3A, TFG, POMT1, SAMHD1, KCNA1, TCF4, FSHR, POLE, CD244, RBCK1, HERC2, TIMM8A, PPT1, GBA, SGCG, RAB3GAP1, ABCC9, PIP5K1C, DOK7, RPL26, PLOD2, TRH, LIMS2, BBS9, GRM1, PTH1R, ABCC8, F10, PEX6, POLG, SLC39A13, ADNP, AGPAT2, HTRA1, NPR2, IRF6, PEX7, SLC12A3, MEGF10, KIF1BP, ALG13, ARSB, SRCAP, MPV17, NF2, PIGV, POLR1A, COL1A1, MPZ, ZFYVE27, CHRNG, F8, SRD5A3, SLC17A3, NT5E, ERCC1, ALG2, NBAS, EBP, NKX3-2, GLB1, TBX3, MBTPS2, COL5A1, IFITM5, OTX2, TSR2, PRKAR1A, PHYH, GAN, VANGL1, KIF14, BTK, AKT3, TNPO3, RAB3GAP2, IBA57, EFEMP2, CLASP1, HNF1B, MARS2, PLA2G6, TGM1, TRIM32, SERPINH1, PIGL, CPT1C, BMP4, MEFV, COL13A1, PDGFRB, MTMR2, DHODH, WFS1, FAT4, POU1F1, OCRL, HLA-DQA1, ATP6V0A2, USP8, CYP2R1, PTCH1, WNT7A, PIGY, PIGO, FBLN5, TP53, FCGR2B, HOXD10, CAPN3, PACS1, WRN, AGTR1, CDAN1, GLUL, PIEZO1, TPM3, GHSR, SDHB, EVC2, PAX2, RTN2, ANTXR2, MECOM, SPG20, ZFPM2, COPA, DDX11, GNAI2, HS6ST1, SLC52A3, UCHL1, GNPAT, IFNG, PRX, YARS, DVL1, FANCC, NCF2, EP300, SLC4A1, THRB, GDAP1, POMT2, ZBTB16, KIF1A, NLRP1, PROKR2, TBC1D20, FERMT1, SEC23B, DCHS1, TRAF3IP1, CARD14, PAX8, LARS, EDN1, DPAGT1, KCNJ11, GJA1, SMARCA2, PUF60, MYH3, SLC9A6, RPS28, VWF, MRPS16, PEX19, MECP2, MVK, MC2R, TGFB3, TGFB2, NLRC4, CTLA4, RAB33B, KIF1B, DPM1, TRIM2, SLC6A1, FOXG1, CCND2, NDE1, PRKDC, COQ7, IGF1R, CFI, TAF2, SEC63, TMEM67, ATP1A3, SLC25A4, ABCA12, TOR1A, COASY, CHSY1, TRPV3, LITAF, ITCH, ATP7B, MPDU1, SIL1, SEMA3E, B3GALT6, WDR34, FGF9, CHRM3, TPI1, ERLIN2, GJB1, SUMF1, NHP2, ICK, GLE1, FLNA, STX16, NGF, RAB23, GJB2, ATR, HSD17B4, DHCR7, FKBP10, CEP41, SLC34A3, ENTPD1, SPG11, BRF1, IER3IP1, EXT2, PRKACA, DLX5, FXN, INSR, KIAA0196, SCN9A, SLCO2A1, CEP57, FLVCR2, ZNF592, CNTNAP1, PLCG2, SPAST, MARS, RPL11, GCH1, PDGFRA, L1CAM, OPA1, BBS4, RET, TBX6, KCNJ2, MTRR, TBXAS1, HACE1, HOXD13, EXOSC3, ITGA7, IFT80, RUNX2, COL4A3BP, MYH11, ADCY6, BMPR1B, GOSR2, SLC35D1, PIK3R1, COX15, HFE, COX10, RYR1, HFE2

ADAMS-OLIVER SYNDROME 5, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, OSTEOGENESIS IMPERFECTA, TYPE I, EHLERS-DANLOS SYNDROME, TYPE 3, CAMURATI-ENGELMANN DISEASE, NIEMANN-PICK DISEASE, TYPE A, OSTEOGENESIS IMPERFECTA, TYPE IV, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CAFFEY DISEASE, KOSAKI OVERGROWTH SYNDROME, OMODYSPLASIA 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, OSTEOGENESIS IMPERFECTA, TYPE II, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CORNELIA DE LANGE SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, PYCNODYSOSTOSIS, GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IS, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, BRACHYDACTYLY, TYPE A2, RHEUMATOID ARTHRITIS, FARBER LIPOGRANULOMATOSIS, MUCOPOLYSACCHARIDOSIS IH/S, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GALACTOSIALIDOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, GAUCHER DISEASE, TYPE IIIC, OSTEOGENESIS IMPERFECTA, TYPE III, MUCOPOLYSACCHARIDOSIS IVA, GAUCHER DISEASE, TYPE I, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II