CHEST

LOEYS-DIETZ SYNDROME 1, AYME-GRIPP SYNDROME, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ANDROGEN INSENSITIVITY, PERIODIC FEVER, FAMILIAL, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PREMATURE OVARIAN FAILURE 7, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LOEYS-DIETZ SYNDROME 3, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPONDYLOPERIPHERAL DYSPLASIA, DENYS-DRASH SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, STICKLER SYNDROME, TYPE I, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, 46XY SEX REVERSAL 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, FRONTOMETAPHYSEAL DYSPLASIA, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, LOEYS-DIETZ SYNDROME 2, SED CONGENITA, LEOPARD SYNDROME 1, EXOSTOSES, MULTIPLE, TYPE 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?SECKEL SYNDROME 4, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

ACTA1, RET, FLNA, SMAD3, KRAS, CBL, COL1A1, DVL3, GPC3, NR5A1, PTPN11, HSPG2, FGFR1, LEP, CHRNA1, NOTCH1, TNFRSF11B, GJA1, FGFR2, DVL1, WT1, AGRN, ITGA3, AR, HNRNPK, TGFBR1, PTEN, TNFRSF1A, ADA, MUSK, MYH11, CREBBP, MAF, EXT2, COL2A1, CENPJ, TGFBR2

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DONNAI-BARROW SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, CRANIOECTODERMAL DYSPLASIA 2, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SHPRINTZEN-GOLDBERG SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROFIBROMATOSIS-NOONAN SYNDROME, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, LIMB-MAMMARY SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OPSISMODYSPLASIA, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, VAN DEN ENDE-GUPTA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CRANIOECTODERMAL DYSPLASIA 1, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CHONDRODYSPLASIA, BLOMSTRAND TYPE, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYHRE SYNDROME, 46XY SEX REVERSAL 3, ANDERSEN SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, WAARDENBURG SYNDROME, TYPE 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, CORNELIA DE LANGE SYNDROME 1, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, AYME-GRIPP SYNDROME, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, SECKEL SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MENTAL RETARDATION, X-LINKED 90, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MARFAN LIPODYSTROPHY SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, EZH2, WNT5A, COL1A1, ACTB, NALCN, GNAS, IKBKG, COL3A1, LEP, UBA1, CDC6, SOX10, IGHMBP2, SCARF2, ITGA3, CLASP1, NPR2, DNM2, PTCH1, PCNT, EMD, TGFBR2, SMAD4, DYNC2H1, SF3B4, PEX5, ACTA1, DVL3, GRIP1, FREM2, KRAS, MEGF10, NME1, TRPV4, PIGT, IFT172, BUB1B, FGFR1, CHRM3, MMP13, TAF6, AKT2, POC1A, CBL, HS6ST1, MET, AGRN, MPC1, TGFBR1, EVC2, TNFRSF1A, RPS6KA3, TP63, VCP, IFT122, PAM16, EVC, BANF1, ALPL, GJA1, KIAA0586, USP9X, RPS28, PTH1R, HDAC6, FLNA, APC, PQBP1, KIF1B, SLC9A6, RAPSN, CHRNA1, RIPK4, SOX2, INPPL1, WDR35, IGF1R, FBN1, IHH, GLI3, NF1, WDR34, MAF, GNRH1, ANTXR1, RUNX2, IFT140, CUL4B, AR, DLG3, BIN1, HNRNPK, PAX3, HSD17B4, NR5A1, CENPE, MAPRE2, DVL1, ATP7A, INSR, NOTCH1, SOS1, FMR1, FGFR2, FEZF1, OFD1, SNRPB, RET, TBX6, KCNJ2, PTEN, HRAS, LRP2, TACR3, ADA, SMAD3, ATR, HSPG2, NEB, KIF1BP

THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, THANATOPHORIC DYSPLASIA, TYPE I, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, LYMPHEDEMA, HEREDITARY, III, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AORTIC ANEURYSM, FAMILIAL THORACIC 9, MULTIPLE SYNOSTOSES SYNDROME 1, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VIII, EXOSTOSES, MULTIPLE, TYPE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), RUBINSTEIN-TAYBI SYNDROME, SADDAN, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, YUNIS-VARON SYNDROME, OCCIPITAL HORN SYNDROME, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, HAY-WELLS SYNDROME, AROMATASE EXCESS SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, NOONAN SYNDROME 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, ALAGILLE SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ANDERSEN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VII, CHILD SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, CORNELIA DE LANGE SYNDROME 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, RITSCHER-SCHINZEL SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, WOLCOTT-RALLISON SYNDROME, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPOPHOSPHATASIA, CHILDHOOD, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ADULT SYNDROME, MENTAL RETARDATION, X-LINKED 90, MYHRE SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, EXOSTOSES, MULTIPLE, TYPE 2, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

WNT5A, COL1A1, ACTB, LBR, SEMA3E, IKBKG, COL1A2, EBP, TRAPPC2, NSDHL, KMT2A, G6PC3, NOG, FMR1, NF1, DES, CDT1, SERPINH1, JAG1, EMD, TGFBR2, CREBBP, P3H1, PTEN, FIG4, TGFB2, FGFR3, KRAS, MEGF10, MAP2K2, LZTR1, GNAS, NOTCH1, PLOD3, LEP, CBL, HS6ST1, MET, AGRN, MPC1, TGFBR1, TNFRSF1A, TP63, BRAF, ALPL, GJA1, SMAD4, EXT1, CBS, PTH1R, CRTAP, FLNA, SNRPB, KIF1B, MFAP5, VDR, C19orf12, NAGLU, PEX3, PIEZO1, KISS1R, ARSB, RPS19, EFNB1, PEX5, TRPV4, CHRM3, RUNX2, LRP5, BIN1, EXT2, HNRNPK, DLG3, CYP19A1, NR5A1, CENPE, VCP, ATP7A, ESR1, GRIP1, INSR, PTPN11, KIAA0196, SOS1, LIPE, FKTN, PLOD2, RET, KCNJ2, HRAS, LRP2, EIF2AK3, IFT80, GNRH1, SMAD3, HSPG2, NEB, CYP17A1

LOEYS-DIETZ SYNDROME 1, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, BASAL CELL NEVUS SYNDROME, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, CRANIOECTODERMAL DYSPLASIA 1, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, FRASER SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, ALSTROM SYNDROME, PERIODIC FEVER, FAMILIAL, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, 46,XX SEX REVERSAL, TYPE 2, MEIER-GORLIN SYNDROME 5, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, ?DYSTONIA, JUVENILE-ONSET, CEREBROCOSTOMANDIBULAR SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MELNICK-NEEDLES SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYHRE SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, ?CRANIOECTODERMAL DYSPLASIA 4, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, METATROPIC DYSPLASIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, PALLISTER-HALL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, INCONTINENTIA PIGMENTI, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, ?AL-GAZALI-BAKALINOVA SYNDROME, ELLIS-VAN CREVELD SYNDROME, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, NESTOR-GUILLERMO PROGERIA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, ?PRUNE BELLY SYNDROME, ROBINOW SYNDROME, AU-KLINE SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL

ACTA1, EVC, SOX9, BANF1, DVL3, FLNA, TRPV4, SUFU, SMAD4, RPS28, TBCE, HSD17B4, WDR60, GNAS, IKBKG, IFT172, ARL2BP, HDAC6, WDR19, WDR11, TUBB, SNRPB, GRIP1, EVC2, TNFRSF1A, HNRNPK, CDC6, SOS1, DVL1, KIF7, MAPRE2, OFD1, TGFBR1, TTC21B, RET, PTCH1, GLI3, PCNT, HRAS, EFEMP2, IFT80, GNRH1, ACTB, TGFBR2, ALMS1, HSPG2, CHRM3, VCP, IFT140, DYNC2H1, SF3B4, PEX5, IFT122

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, OSTEOGLOPHONIC DYSPLASIA, FRASER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, OTOPALATODIGITAL SYNDROME, TYPE I, RESTRICTIVE DERMOPATHY, LETHAL, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, MELNICK-NEEDLES SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, NEUROFIBROMATOSIS-NOONAN SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 90, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, WAARDENBURG SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MALOUF SYNDROME, MANDIBULOACRAL DYSPLASIA, BRACHYOLMIA TYPE 3, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

PTCH1, LMNA, FLNA, GJA1, PAX3, HDAC6, DLG3, FGFR1, USP9X, GRIP1, AKT2, IGHMBP2, IGF1R, MMP13, FMR1, ITGA3, DVL1, TGFBR1, APC, HRAS, EMD, NF1, TRPV4, NEB, PAM16

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, OSTEOGLOPHONIC DYSPLASIA, FRASER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, OTOPALATODIGITAL SYNDROME, TYPE I, RESTRICTIVE DERMOPATHY, LETHAL, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, MELNICK-NEEDLES SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, NEUROFIBROMATOSIS-NOONAN SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 90, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, WAARDENBURG SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, MALOUF SYNDROME, MANDIBULOACRAL DYSPLASIA, BRACHYOLMIA TYPE 3, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

PTCH1, LMNA, FLNA, GJA1, PAX3, HDAC6, DLG3, FGFR1, USP9X, HRAS, AKT2, IGHMBP2, DVL1, MMP13, ITGA3, TGFBR1, APC, GRIP1, EMD, NF1, TRPV4, NEB, PAM16

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MULTIPLE FIBROADENOMAS OF THE BREAST, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BRUCK SYNDROME 1, WAARDENBURG SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?HYPERPROLACTINEMIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, MEIER-GORLIN SYNDROME 1, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, PYCNODYSOSTOSIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VIII, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LIMB-MAMMARY SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MYHRE SYNDROME, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, LOEYS-DIETZ SYNDROME 5, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, ALAGILLE SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, MUCOPOLYSACCHARIDOSIS VII, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, OSTEOGENESIS IMPERFECTA, TYPE VII, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, FIBROCHONDROGENESIS 1, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, SECKEL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XV, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MUCOPOLYSACCHARIDOSIS IVA, EXOSTOSES, MULTIPLE, TYPE 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

LMNA, DNM2, WNT5A, COL1A1, ACOX1, FKBP10, GNAS, IKBKG, COL3A1, ALPL, GUSB, COL11A2, TAF6, COL5A1, GJA1, SOX10, LIPE, WT1, CLASP1, KISS1, MARS2, SERPINH1, GALNS, JAG1, COL13A1, WNT4, CREBBP, P3H1, COL2A1, SF3B4, PTEN, ACTA1, WNT7A, ACTB, TGFB2, KRAS, LZTR1, NME1, NOTCH1, GNS, PLOD3, EDA, MET, LEP, COL1A2, AKT2, CBL, HS6ST1, MMP13, AGRN, TNNT1, PRLR, DVL1, CRYAB, TGFBR1, CRTAP, TNFRSF1A, GSC, TP63, DVL3, TGFB3, MFAP5, PAM16, PTCH1, GLB1, DDR2, SOX9, SUFU, SMAD4, CTSK, CBS, ARL2BP, HDAC6, LRP5, RAB33B, SNRPB, RAPSN, TUBB, ROR2, SOX2, INPPL1, IGF1R, TANGO2, EZH2, GLI3, POLD1, ARSB, EFNB1, PEX5, MUSK, CHRM3, IDUA, GPX4, RUNX2, AR, FLNA, MYH11, HNRNPK, PAX3, ALDH18A1, HSD17B4, NR5A1, WNT3, PTPN11, GATA6, NAGLU, EIF2AK3, COL11A1, EXT2, ORC1, INSR, COL5A2, SOS1, PDHX, WNT1, PLOD2, GPC3, APC, HRAS, LRP2, ADA, SERPINF2, SMAD3, ATR, HSPG2, ESR1, TGFBR2, PTPRF

DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BRUCK SYNDROME 1, DONNAI-BARROW SYNDROME, CHIME SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, COLE-CARPENTER SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, LYMPHEDEMA, HEREDITARY, III, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PETERS-PLUS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, EXOSTOSES, MULTIPLE, TYPE 1, MEIER-GORLIN SYNDROME 5, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, 3MC SYNDROME 1, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERIODIC FEVER, FAMILIAL, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, SPONDYLOOCULAR SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, DESBUQUOIS DYSPLASIA 2, LIMB-MAMMARY SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AROMATASE EXCESS SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WEAVER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, SCHNECKENBECKEN DYSPLASIA, 46XY SEX REVERSAL 3, CHILD SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, FRAGILE X SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, DESBUQUOIS DYSPLASIA 1, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, MUSCULAR DYSTROPHY, RIGID SPINE, 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, HAY-WELLS SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADULT SYNDROME, COWDEN SYNDROME 7, DIAMOND-BLACKFAN ANEMIA 7, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, DIAMOND-BLACKFAN ANEMIA 1, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, CONGENITAL DIAPHRAGMATIC HERNIA, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

LMNA, EZH2, FKBP10, LBR, PIGT, IKBKG, EBP, B3GLCT, PTDSS1, PCYT1A, NSDHL, EIF4A3, STK11, SLC35D1, DES, ALG2, SMAD4, SEC24D, CYP2R1, ACTB, KRAS, MEGF10, FOXL2, LZTR1, AR, NOTCH1, CBS, PLOD3, EDA, LEP, ALG11, CANT1, CBL, HSD17B3, TGFBR1, TNFRSF1A, ABCD4, NOTCH3, CYP21A2, TP63, VCP, SEC23B, RET, ALPL, GJA1, XYLT2, EXT1, TMCO1, SLC9A6, VDR, EXT2, DVL1, PIEZO1, IHH, CDC6, ARSB, RPS19, PTEN, G6PC3, RUNX2, NME1, FLNA, MASP1, HNRNPK, SEPN1, PIGN, CYP19A1, NR5A1, XYLT1, PIGL, PTPN11, DVL3, IGF1R, EIF2AK3, C19orf12, INSR, FMR1, RPL11, ZMPSTE24, PLOD2, DPAGT1, CTNS, HRAS, LRP2, GNRH1, SERPINF2, SMAD3, HSPG2, ESR1, CYP17A1, SOX10

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, SMITH-MCCORT DYSPLASIA 2, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, DENYS-DRASH SYNDROME, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, CONGENITAL DIAPHRAGMATIC HERNIA, ?TETRA-AMELIA SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, EXOSTOSES, MULTIPLE, TYPE 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, SERKAL SYNDROME

WNT7A, WNT5A, COL1A1, WNT3, NOTCH1, RAB33B, EDA, MET, LEP, SOS1, SOX10, IGF1R, MMP13, AGRN, WT1, WNT1, GPC3, PTEN, ROR2, MUSK, HSPG2, EXT2, COL2A1, WNT4

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, AYME-GRIPP SYNDROME, BOHRING-OPITZ SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, GRACILE BONE DYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PREMATURE OVARIAN FAILURE 8, ANDROGEN INSENSITIVITY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, NOONAN SYNDROME 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WEAVER SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DENYS-DRASH SYNDROME, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MEIER-GORLIN SYNDROME 1, LIMB-MAMMARY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, PERLMAN SYNDROME, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?OTOFACIOCERVICAL SYNDROME, KABUKI SYNDROME 2, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), CORNELIA DE LANGE SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, LUJAN-FRYNS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, AU-KLINE SYNDROME

SOX9, STAG3, ASXL1, KMT2A, DIS3L2, HNRNPK, SMAD4, AR, UBE2A, BANF1, CENPE, HDAC6, CUL4B, ESR1, ORC1, FAM111A, KDM1A, NOTCH1, SOX2, KDM6A, VDR, NIPBL, LZTR1, MED12, WT1, TTC21B, EZH2, PTEN, NOTCH3, ACTB, EYA1, SMAD3, TFAP2A, CREBBP, MAF, TP63, RUNX2, GSC, PAX3

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FRASER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPOPHOSPHATASIA, CHILDHOOD, ANDROGEN INSENSITIVITY, SCLEROSTEOSIS 1, WOLCOTT-RALLISON SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, DONNAI-BARROW SYNDROME, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CRANIOFRONTONASAL DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SCLEROSTEOSIS 2, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LOEYS-DIETZ SYNDROME 3, MENTAL RETARDATION, X-LINKED 90, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ROBINOW SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, FRAGILE X SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, AU-KLINE SYNDROME

ACTA1, WNT7A, AR, DLG3, BIN1, HNRNPK, SMAD4, DVL3, SOST, DOK7, EIF2AK3, GJA1, GRIP1, PLOD3, SLC9A6, RAPSN, CHRNA1, COL1A2, FLNA, SOS1, AGRN, FGFR2, DVL1, MET, FMR1, ITGA3, TNNT1, ALPL, COL1A1, DES, HRAS, LRP2, EFNB1, ACTB, PTEN, SMAD3, HSPG2, GNRH1, CHRM3, MUSK, LRP4

LOEYS-DIETZ SYNDROME 1, ADULT SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, AYME-GRIPP SYNDROME, LEOPARD SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, PERIODIC FEVER, FAMILIAL, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ANDROGEN INSENSITIVITY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THANATOPHORIC DYSPLASIA, TYPE I, SECKEL SYNDROME 1, OTOPALATODIGITAL SYNDROME, TYPE I, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PREMATURE OVARIAN FAILURE 7, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MELNICK-NEEDLES SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPONDYLOPERIPHERAL DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, DENYS-DRASH SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, STICKLER SYNDROME, TYPE I, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIMB-MAMMARY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, 46XY SEX REVERSAL 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CONGENITAL DIAPHRAGMATIC HERNIA, FRONTOMETAPHYSEAL DYSPLASIA, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, LOEYS-DIETZ SYNDROME 2, MALOUF SYNDROME, LOEYS-DIETZ SYNDROME 3, MANDIBULOACRAL DYSPLASIA, EXOSTOSES, MULTIPLE, TYPE 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, ?SECKEL SYNDROME 4, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ACROCAPITOFEMORAL DYSPLASIA, SADDAN, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

ACTA1, LMNA, TGFBR1, FLNA, SMAD3, KRAS, CBL, MAP2K2, CREBBP, DVL3, GPC3, NR5A1, IGBP1, PTPN11, MAF, GJA1, CHRNA1, FGFR1, EXT2, LEP, NOTCH1, HNRNPK, TNFRSF11B, BIN1, FGFR2, IHH, DVL1, MET, ITGA3, AGRN, WT1, AR, COL1A1, RET, FGFR3, PTEN, TNFRSF1A, ADA, MUSK, MYH11, ATR, HSPG2, TP63, COL2A1, RUNX2, CENPJ, TGFBR2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, BASAL CELL NEVUS SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, ADULT SYNDROME, ATELOSTEOGENESIS, TYPE I, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, COLE-CARPENTER SYNDROME 2, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, METATROPIC DYSPLASIA, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, LOEYS-DIETZ SYNDROME 2, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, SADDAN, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SHPRINTZEN-GOLDBERG SYNDROME, BOHRING-OPITZ SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), INCONTINENTIA PIGMENTI, ACHONDROGENESIS IB, KEUTEL SYNDROME, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, COFFIN-LOWRY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, NAIL-PATELLA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, 46XY SEX REVERSAL 3, ANDERSEN SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, ESCOBAR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, C SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, ALLAN-HERNDON-DUDLEY SYNDROME, COLE DISEASE, MENTAL RETARDATION, X-LINKED 90, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, CD96, SEC24D, COL1A1, CHRNG, ACTB, NALCN, GNAS, IKBKG, COL1A2, EBP, ALPL, TBX3, ENPP1, NOTCH3, UBA1, CDC6, DDR2, SOX10, SLC17A5, FMR1, SGCB, NPR2, KISS1, CDT1, EFEMP2, JAG1, TGFBR2, CREBBP, COL2A1, SF3B4, NF1, PTCH1, WNT7A, GRIP1, IL1RN, RSPO1, AR, NOTCH1, GNRHR, FGFR1, EDA, MMP13, LEP, AKT2, CBL, HS6ST1, MET, AGRN, TGFBR1, FGFR3, TNFRSF1A, KRAS, RPS6KA3, TP63, VCP, SEC23B, GPC3, GLB1, GJA1, SOX9, TGFB2, SMAD4, DVL3, LMX1B, PTH1R, TGFB3, FLNA, APC, SNRPB, CHRNA1, ROR2, TBX5, TNFRSF11B, SLC26A2, VDR, WNT5A, IGF1R, FBN1, SLC16A2, IHH, ZBTB16, EFNB1, PEX5, TRPV4, MUSK, MAF, GNRH1, CHRM3, RUNX2, PTEN, NRAS, DLG3, MYH11, SEMA3A, MASP1, HNRNPK, ASXL1, NR5A1, CENPE, DVL1, TACR3, SLC52A3, INSR, PTPN11, SOS1, FGFR2, LRP5, LIFR, CRYAB, CLASP1, RET, KCNJ2, KIF1BP, HRAS, EIF2AK3, MGP, SMAD3, BAG3, HSPG2, ESR1, FLNB, PTPRF

WEILL-MARCHESANI SYNDROME 1, RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MARFAN LIPODYSTROPHY SYNDROME

ADAMTS10, FBN1, FBN2, MFAP5

LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SPONDYLOCOSTAL DYSOSTOSIS 5, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, LARSEN SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ANDROGEN INSENSITIVITY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THANATOPHORIC DYSPLASIA, TYPE I, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, OTOPALATODIGITAL SYNDROME, TYPE I, ATELOSTEOGENESIS, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ?DYSTONIA, JUVENILE-ONSET, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, FRONTOMETAPHYSEAL DYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, WOLCOTT-RALLISON SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CATSHL SYNDROME, METATROPIC DYSPLASIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CORNELIA DE LANGE SYNDROME 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OPSISMODYSPLASIA, MALOUF SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, VAN DEN ENDE-GUPTA SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, BRACHYOLMIA TYPE 3, OSTEOGENESIS IMPERFECTA, TYPE II, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RESTRICTIVE DERMOPATHY, LETHAL, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SADDAN, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, ESTROGEN RESISTANCE

ACTA1, LMNA, DNM2, FLNA, MYH11, BIN1, FGFR2, MAP2K2, SMAD4, AR, GPC3, TRPV4, IGBP1, PIGT, NOTCH1, TPM2, KRAS, EIF2AK3, LEP, GJA1, TUBB, FGFR1, KIF1B, TAF6, KDM1A, PTPN11, HNRNPK, SOS1, KMT2A, INPPL1, ESR1, FHL1, CBL, AGRN, ITGA3, ACTB, TNNT1, COL1A1, TGFBR1, RET, SERPINH1, HRAS, LRP2, SCARF2, RPS19, GNRH1, PTPRF, PTEN, HES7, FGFR3, HSPG2, CHRM3, DDR2, BRAF, FLNB, SF3B4, ARHGAP31

LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, LARSEN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THANATOPHORIC DYSPLASIA, TYPE I, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, OTOPALATODIGITAL SYNDROME, TYPE I, ATELOSTEOGENESIS, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ?DYSTONIA, JUVENILE-ONSET, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, FRONTOMETAPHYSEAL DYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, WOLCOTT-RALLISON SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CATSHL SYNDROME, METATROPIC DYSPLASIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OPSISMODYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MALOUF SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, VAN DEN ENDE-GUPTA SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, BRACHYOLMIA TYPE 3, OSTEOGENESIS IMPERFECTA, TYPE II, DIAMOND-BLACKFAN ANEMIA 1, RESTRICTIVE DERMOPATHY, LETHAL, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, OSTEOGENESIS IMPERFECTA, TYPE III, SADDAN, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, ESTROGEN RESISTANCE

ACTA1, LMNA, DNM2, FLNA, MYH11, BIN1, FGFR2, MAP2K2, SMAD4, AR, GPC3, TRPV4, IGBP1, PIGT, NOTCH1, TPM2, KRAS, EIF2AK3, LEP, GJA1, TUBB, FGFR1, KIF1B, TAF6, KDM1A, PTPN11, HNRNPK, SOS1, KMT2A, INPPL1, ESR1, FHL1, CBL, AGRN, ITGA3, ACTB, TNNT1, COL1A1, TGFBR1, RET, SERPINH1, HRAS, LRP2, SCARF2, RPS19, GNRH1, PTPRF, PTEN, FGFR3, HSPG2, CHRM3, DDR2, BRAF, FLNB, SF3B4, ARHGAP31

MYOTUBULAR MYOPATHY, X-LINKED, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PERIODIC FEVER, FAMILIAL, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JOUBERT SYNDROME 21, INCONTINENTIA PIGMENTI, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BRACHYOLMIA TYPE 3, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SECKEL SYNDROME 7, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?DYSTONIA, JUVENILE-ONSET, CEREBROCOSTOMANDIBULAR SYNDROME, MYHRE SYNDROME, NOONAN SYNDROME 10, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, KENNY-CAFFEY SYNDROME, TYPE 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, METATROPIC DYSPLASIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, FRAGILE X SYNDROME, MENTAL RETARDATION, X-LINKED 90, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MALOUF SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, ?SECKEL SYNDROME 4, RUBINSTEIN-TAYBI SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MEIER-GORLIN SYNDROME 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL

ACTA1, LMNA, RPS28, DLG3, KRAS, AXIN2, MAP2K2, SMAD4, SNRPB, HSD17B4, IGBP1, IKBKG, PIGT, CENPE, MAPRE2, HDAC6, VCP, BUB1B, NIN, TUBB, USP9X, KIF1B, TNFRSF1A, PCNT, GJA1, CBL, DVL1, TBCE, FMR1, CSPP1, CLASP1, DNM2, CDT1, APC, HRAS, ZBTB16, EMD, ACTB, PTEN, TRPV4, LZTR1, CREBBP, GNRH1, DYNC2H1, CENPJ

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE II, ALSTROM SYNDROME, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, THANATOPHORIC DYSPLASIA, TYPE I, ADULT SYNDROME, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 19, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, FRASER SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, SADDAN, COFFIN-LOWRY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, SECKEL SYNDROME 1, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DENYS-DRASH SYNDROME, MARTSOLF SYNDROME, SCLEROSTEOSIS 2, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, VAN DEN ENDE-GUPTA SYNDROME, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, WIEACKER-WOLFF SYNDROME, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, BOHRING-OPITZ SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MICROPHTHALMIA, SYNDROMIC 1, ANDERSEN SYNDROME, WAARDENBURG SYNDROME, TYPE 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, ?SECKEL SYNDROME 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, FRAGILE X SYNDROME, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SIALIC ACID STORAGE DISORDER, INFANTILE, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, ESCOBAR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, 3MC SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, KMT2A, COL1A1, NAA10, CHRNG, ACTB, IGBP1, IKBKG, TAF6, KDM1A, PCYT1A, DDR2, EIF4A3, SLC17A5, NOG, SCARF2, KIF1B, ITGA3, CLASP1, PPP1R15B, DNM2, DES, SERPINH1, JAG1, EMD, TGFBR2, SMAD4, CREBBP, COL13A1, CUL7, SF3B4, MUSK, ACTA1, SOX9, GRIP1, XRCC4, KRAS, CBL, MAP2K2, NME1, TRPV4, PIGT, NOTCH1, FGFR1, MET, LEP, ZC4H2, MEGF10, HS6ST1, MMP13, AGRN, TNNT1, MPC1, GLIS3, TGFBR1, FGFR3, ZBTB16, RPS6KA3, TP63, VCP, BRAF, ARHGAP31, PTCH1, GPC3, GJA1, RAB3GAP2, DVL3, TPM2, HDAC6, FLNA, APC, TUBB, USP9X, RAPSN, CHRNA1, BIN1, INPPL1, FHL1, IGF1R, SH3PXD2B, GLI3, NOTCH3, RPS19, EFNB1, MYH2, ALMS1, GNRH1, CHRM3, CHRND, RUNX2, CENPJ, LRP4, AR, DLG3, MYH11, SEMA3A, MASP1, HNRNPK, PAX3, ASXL1, PTPN11, DVL1, EIF2AK3, ESR1, INSR, SOS1, FMR1, FGFR2, WT1, DOK7, RET, KCNJ2, PTEN, HRAS, LRP2, ADA, HES7, SMAD3, ATR, HSPG2, NEB, FLNB, PTPRF, SKI

LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SPONDYLOCOSTAL DYSOSTOSIS 5, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, LARSEN SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ANDROGEN INSENSITIVITY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THANATOPHORIC DYSPLASIA, TYPE I, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, OTOPALATODIGITAL SYNDROME, TYPE I, ATELOSTEOGENESIS, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ?DYSTONIA, JUVENILE-ONSET, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, FRONTOMETAPHYSEAL DYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, WOLCOTT-RALLISON SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CATSHL SYNDROME, METATROPIC DYSPLASIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CORNELIA DE LANGE SYNDROME 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OPSISMODYSPLASIA, MALOUF SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, VAN DEN ENDE-GUPTA SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, BRACHYOLMIA TYPE 3, OSTEOGENESIS IMPERFECTA, TYPE II, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RESTRICTIVE DERMOPATHY, LETHAL, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SADDAN, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, ESTROGEN RESISTANCE

ACTA1, LMNA, DNM2, FLNA, MYH11, BIN1, FGFR2, MAP2K2, SMAD4, AR, GPC3, TRPV4, IGBP1, PIGT, NOTCH1, TPM2, KRAS, EIF2AK3, LEP, GJA1, TUBB, FGFR1, KIF1B, TAF6, KDM1A, PTPN11, HNRNPK, SOS1, KMT2A, INPPL1, ESR1, FHL1, CBL, AGRN, ITGA3, ACTB, TNNT1, COL1A1, TGFBR1, RET, SERPINH1, HRAS, LRP2, SCARF2, RPS19, GNRH1, PTPRF, PTEN, HES7, FGFR3, HSPG2, CHRM3, DDR2, BRAF, FLNB, SF3B4, ARHGAP31

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, NEMALINE MYOPATHY 9, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, LUJAN-FRYNS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MARTSOLF SYNDROME, LIMB-MAMMARY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, ACHONDROGENESIS, TYPE IA, MALOUF SYNDROME, DIAMOND-BLACKFAN ANEMIA 10, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), VAN DEN ENDE-GUPTA SYNDROME, JOHANSON-BLIZZARD SYNDROME, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SHPRINTZEN-GOLDBERG SYNDROME, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CRANIOECTODERMAL DYSPLASIA 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ELLIS-VAN CREVELD SYNDROME, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, CORNELIA DE LANGE SYNDROME 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ?CRANIOECTODERMAL DYSPLASIA 4, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, BRACHYOLMIA TYPE 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SECKEL SYNDROME 1, LOEYS-DIETZ SYNDROME 4, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

LMNA, DNM2, RPS26, KISS1, ICK, ACTB, IKBKG, EVC2, PCYT1A, CDC6, KDM6A, SCARF2, SGCB, PPP1R15B, SUFU, MARS2, DES, EFEMP2, ERCC2, FGD1, RAB3GAP2, CREBBP, SF3B4, TGFBR2, ACTA1, SOX9, DVL3, GRIP1, KRAS, TTC21B, MEGF10, LZTR1, AR, IFT172, EDA, LEP, CBL, MET, TNNT1, OFD1, TGFBR1, TNFRSF1A, ZBTB16, KLHL41, TP63, TRIP11, BANF1, GJA1, TGFB2, SMAD4, SNRPB, RPS28, UBR1, TPM2, HDAC6, DLG3, BICD2, USP9X, RAPSN, TUBB, SOX2, INPPL1, DVL1, MED12, KISS1R, NOTCH3, EFNB1, PTEN, TRPV4, CHRM3, EIF4A3, GLE1, CUL4B, FLNA, MYH11, BIN1, HNRNPK, PTPN11, MAPRE2, VCP, EIF2AK3, TAF6, IFT43, NEB, TBCE, CENPE, SOS1, TANGO2, WDR19, CRYAB, CLASP1, RET, CTNS, APC, KIF1BP, HRAS, LRP2, GNRH1, SMAD3, ATR, ESR1, FLNB, PEX5

SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, CRANIOECTODERMAL DYSPLASIA 1, ELLIS-VAN CREVELD SYNDROME, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, CRANIOECTODERMAL DYSPLASIA 2, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, ?MYOPATHY, SCAPULOHUMEROPERONEAL

ACTA1, EVC, SMAD3, IFT122, WDR34, KIAA0586, OFD1, SMAD4, IFT140, WDR35, NOTCH1, PCNT, POC1A, IFT172

LOEYS-DIETZ SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, LARSEN SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, ATELOSTEOGENESIS, TYPE I, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ESTROGEN RESISTANCE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, 46,XX SEX REVERSAL, TYPE 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OPSISMODYSPLASIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, FRAGILE X SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

ACTA1, SOX9, FLNA, AXIN2, MAP2K2, DVL3, GNAS, NOTCH1, GATA6, DVL1, FGFR1, AKT2, INPPL1, FGFR2, IGF1R, FMR1, CLASP1, HNRNPK, TGFBR1, FLNB, HRAS, EFEMP2, ZBTB16, SMAD3, ESR1, RUNX2

THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PYCNODYSOSTOSIS, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, MUCOPOLYSACCHARIDOSIS IVA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2

ACTA1, LRP2, NAGLU, TGFB2, CBL, AGRN, GUSB, ARSB, COL1A1, HSPG2, GLB1, DVL1, NOTCH1, CTSK, GPC3, IDUA, GNS, GALNS

WEILL-MARCHESANI SYNDROME 1, RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MARFAN LIPODYSTROPHY SYNDROME, ALAGILLE SYNDROME

ADAMTS10, FBN2, FBN1, JAG1, MFAP5

SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SMED STRUDWICK TYPE, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, 3MC SYNDROME 1, SPONDYLOPERIPHERAL DYSPLASIA, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, LOEYS-DIETZ SYNDROME 4, FIBROCHONDROGENESIS 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED

CCBE1, COL3A1, SOX9, TGFB2, COL11A1, COL11A2, MASP1, EFEMP2, COL1A1, SERPINH1, EDA, COL13A1, COL5A2, COL2A1, COL1A2, COL5A1, DDR2, SOX10

SPONDYLOPERIPHERAL DYSPLASIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, STICKLER SYNDROME, TYPE I, FIBROCHONDROGENESIS 2, SMED STRUDWICK TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOGENESIS IMPERFECTA, TYPE II, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT

COL3A1, COL11A1, COL11A2, COL5A1, COL5A2, COL2A1, COL1A1, SOX10, COL1A2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, SCLEROSTEOSIS 1, BASAL CELL NEVUS SYNDROME, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, THANATOPHORIC DYSPLASIA, TYPE I, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, PYCNODYSOSTOSIS, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VIII, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SHPRINTZEN-GOLDBERG SYNDROME, RAINE SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, AORTIC ANEURYSM, FAMILIAL THORACIC 9, LEPRECHAUNISM, SECKEL SYNDROME 1, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, 3MC SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SCLEROSTEOSIS 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, INCONTINENTIA PIGMENTI, ?TETRA-AMELIA SYNDROME, KEUTEL SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, VAN MALDERGEM SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, SERKAL SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PREMATURE OVARIAN FAILURE 8, DIAMOND-BLACKFAN ANEMIA 7, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ALAGILLE SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE XIII, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), ?CHARGE SYNDROME, CHARGE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VII, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ACROCAPITOFEMORAL DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, VAN MALDERGEM SYNDROME 2, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ANDROGEN INSENSITIVITY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, PERIODIC FEVER, FAMILIAL, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ULNAR-MAMMARY SYNDROME, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, ADULT SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, COLE DISEASE, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MARFAN LIPODYSTROPHY SYNDROME, HAMAMY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?HYPERPROLACTINEMIA, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 2, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

CCBE1, DCHS1, EZH2, PLOD3, IRX5, FSHB, COL1A1, ACTB, SEMA3E, IKBKG, COL3A1, TBX3, ENPP1, COL5A1, TRAPPC2, SOX2, UBA1, WNT5A, SOX10, GDF6, STK11, PLS3, NOG, LIPE, WT1, CLASP1, BAG3, PROK2, KISS1, DNM2, SERPINH1, NOTCH3, LTBP4, EFEMP2, BMPER, JAG1, ERCC2, EMD, TGFBR2, CREBBP, P3H1, COL2A1, MUSK, ACTA1, WNT7A, DVL3, TGFB2, TRPV4, RSPO1, FGFR2, FOXL2, LZTR1, ADA, NME1, SP7, ANOS1, GNAS, NOTCH1, FGFR1, EDA, MET, LEP, COL1A2, AKT2, CBL, HS6ST1, MMP13, AGRN, TNNT1, LRP5, CRYAB, TGFBR1, BMP1, TAC3, ROR2, KRAS, TNNT2, GSC, TP63, VCP, SEC23B, PTCH1, FAM20C, GPC3, ALPL, GJA1, SOX9, SUFU, SMAD4, CTSK, CBS, LMX1B, TGFB3, FLNA, GDF2, PQBP1, RAPSN, TUBB, LTBP2, TNFRSF1A, TBX5, IL1RN, DDR2, FBLN5, VDR, EXT2, IGF1R, TANGO2, FBN1, IHH, GLI3, TNFRSF11B, ARSB, ZBTB16, EFNB1, PTEN, FGFR3, MAF, GNRH1, CHRM3, HRAS, RUNX2, LRP4, GLE1, STAG3, AR, DLG3, SMAD3, SEMA3A, MASP1, HNRNPK, PAX3, FAT4, WNT3, SOST, GATA6, DVL1, PRLR, INSR, PTPN11, SOS1, FKTN, BRAF, WDR60, CRTAP, LIFR, RPL11, WNT1, PLOD2, RET, APC, MFAP5, LRP2, WNT4, MGP, SERPINF2, MYH11, ATR, HSPG2, ESR1, KIF1BP, PORCN, SKI

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, 3-M SYNDROME 1, WEAVER SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, INCONTINENTIA PIGMENTI, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, ALSTROM SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SECKEL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SHPRINTZEN-GOLDBERG SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BRANCHIOOCULOFACIAL SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?DYSTONIA, JUVENILE-ONSET, CEREBROCOSTOMANDIBULAR SYNDROME, MYHRE SYNDROME, 3-M SYNDROME 3, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, SECKEL SYNDROME 5, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, HYDROLETHALUS SYNDROME, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, MEIER-GORLIN SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, JOUBERT SYNDROME 21, WAARDENBURG SYNDROME, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), CORNELIA DE LANGE SYNDROME 1, MEIER-GORLIN SYNDROME 5, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, ?SECKEL SYNDROME 4, RUBINSTEIN-TAYBI SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CRANIOECTODERMAL DYSPLASIA 2, SECKEL SYNDROME 7, MEIER-GORLIN SYNDROME 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY

SOX9, CUL4B, ACTB, DLG3, SMAD3, CEP120, AXIN2, GLE1, KIAA0586, VPS37A, NME1, ALMS1, GNAS, IKBKG, HYLS1, ARL2BP, HDAC6, VCP, BUB1B, NIN, TUBB, NEK1, CEP152, TAF6, KDM1A, CENPE, WDR35, CDC6, POC1A, SOX10, CREBBP, DVL1, TBCE, CSPP1, OFD1, SNRPB, PAX3, CLASP1, EZH2, CDT1, APC, CUL7, NOTCH1, ZBTB16, IFT80, ORC1, ADA, CCDC8, XRCC4, SMAD4, ATR, IFT140, TFAP2A, PAM16, CENPJ, SKI, PCNT

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE II, THANATOPHORIC DYSPLASIA, TYPE I, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, COLE-CARPENTER SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 19, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, BOHRING-OPITZ SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, KBG SYNDROME, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?TETRA-AMELIA SYNDROME, HAY-WELLS SYNDROME, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, AROMATASE EXCESS SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, AYME-GRIPP SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, SCHNECKENBECKEN DYSPLASIA, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, ABLEPHARON-MACROSTOMIA SYNDROME, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, ?SECKEL SYNDROME 4, FRAGILE X SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, VAN MALDERGEM SYNDROME 2, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, BARBER-SAY SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, DESBUQUOIS DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, MUSCULAR DYSTROPHY, RIGID SPINE, 1, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, LATERAL MENINGOCELE SYNDROME, TARP SYNDROME, 3-M SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE XV, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, BRACHYOLMIA TYPE 3, WEILL-MARCHESANI SYNDROME 2, DOMINANT, COLE DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, MULTIPLE FIBROADENOMAS OF THE BREAST, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, CHIME SYNDROME, MELNICK-NEEDLES SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, ?OTOFACIOCERVICAL SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PERIODIC FEVER, FAMILIAL, C SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, KENNY-CAFFEY SYNDROME, TYPE 1, OCCIPITAL HORN SYNDROME, WRINKLY SKIN SYNDROME, DENYS-DRASH SYNDROME, MARTSOLF SYNDROME, ACHONDROGENESIS IB, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), MUCOLIPIDOSIS III ALPHA/BETA, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, JOHANSON-BLIZZARD SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, LEGIUS SYNDROME, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ?OSTEOGENESIS IMPERFECTA, TYPE XII, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 10, ALAGILLE SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ANDERSEN SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, DESBUQUOIS DYSPLASIA 2, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SIALIC ACID STORAGE DISORDER, INFANTILE, ESCOBAR SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, ALLAN-HERNDON-DUDLEY SYNDROME, GREENBERG SKELETAL DYSPLASIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, DIAMOND-BLACKFAN ANEMIA 1, LOEYS-DIETZ SYNDROME 4, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, WARBURG MICRO SYNDROME 3, BASAL CELL NEVUS SYNDROME, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, BRUCK SYNDROME 1, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 3-M SYNDROME 3, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, METATROPIC DYSPLASIA, CONGENITAL DIAPHRAGMATIC HERNIA, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), SADDAN, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, YUNIS-VARON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, HYDROLETHALUS SYNDROME, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, LIMB-MAMMARY SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, DIAMOND-BLACKFAN ANEMIA 10, SCLEROSTEOSIS 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CRANIOECTODERMAL DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, VITAMIN D-DEPENDENT RICKETS, TYPE I, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CORNELIA DE LANGE SYNDROME 1, MEIER-GORLIN SYNDROME 4, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SMITH-MCCORT DYSPLASIA 2, FIBROCHONDROGENESIS 2, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46,XX SEX REVERSAL, TYPE 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SMED STRUDWICK TYPE, MYHRE SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, ARTERIAL TORTUOSITY SYNDROME, PALLISTER-HALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, MUCOLIPIDOSIS III GAMMA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, LYMPHEDEMA, HEREDITARY, III, ?HYPERPROLACTINEMIA, OSTEOGENESIS IMPERFECTA, TYPE VIII, PETERS-PLUS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, 3MC SYNDROME 1, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PREMATURE OVARIAN FAILURE 7, LUJAN-FRYNS SYNDROME, CATSHL SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, BRUCK SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, KOOLEN-DE VRIES SYNDROME, ACHONDROGENESIS, TYPE IA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, VAN MALDERGEM SYNDROME 1, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, GM1-GANGLIOSIDOSIS, TYPE I, PREMATURE OVARIAN FAILURE 8, GLYCOGEN STORAGE DISEASE II, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, SECKEL SYNDROME 5, SED CONGENITA, RESTRICTIVE DERMOPATHY, LETHAL, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XIII, CHILD SYNDROME, SECKEL SYNDROME 9, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, CPT II DEFICIENCY, LETHAL NEONATAL, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 7, MENTAL RETARDATION, X-LINKED 90, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, MEIER-GORLIN SYNDROME 3, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, SIALURIA, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY

FGFR1, DCHS1, LBR, GNAS, COL3A1, GUSB, ENPP1, PCYT1A, CDC6, SLC17A5, NOG, SLC35D1, ITGA3, ERCC6, GNPTAB, TGFBR2, CREBBP, EFNB1, P3H1, DYNC2H1, EVC, FGFR3, SOX2, AXIN2, NALCN, AR, GNRHR, BUB1B, MGAT2, ALG11, ADAMTS10, CBL, TNNT1, NAGLU, ROR2, ABCD4, TNNT2, CYP21A2, ANKRD11, TP63, KMT2A, BANF1, DDR2, SUFU, RAB3GAP2, SMAD4, DVL3, CUL4B, CHST14, TMCO1, TPM2, HDAC6, LEP, GDF2, PQBP1, TUBB, RIPK4, INPPL1, AIP, UBA1, TANGO2, SH3PXD2B, EZH2, GLI3, NSDHL, NOTCH3, GNE, PEX5, IL1RN, MUSK, MTM1, IFT122, CHST3, STAG3, LRP5, TRIP11, MASP1, HNRNPK, SEPN1, PIGN, PIGL, WNT3, PTPN11, PDHX, LIPE, FKTN, EDARADD, MAPRE2, ZMPSTE24, RAB40AL, B4GALT7, CTNS, LRP2, COX7B, HPGD, FSHB, DNM2, RPS26, OFD1, IRX5, TRAIP, NAA10, ACTB, SEMA3E, COL1A2, B3GLCT, COL11A2, VPS37A, UBE2A, G6PC3, ADGRG6, WT1, BAG3, PROK2, DES, CDT1, SOS1, JAG1, EMD, CUL7, SF3B4, FIG4, SHOC2, DOK7, SLC26A2, MAP2K2, TFAP2A, NME1, SP7, SLC34A3, NOTCH1, PLOD3, ESR1, SPRED1, RBM10, GPX4, RAB18, TSR2, BRAF, ORC4, ALPL, GNPTG, BMP1, CBS, UBR1, CYP27B1, PTH1R, KCNJ5, TNFRSF11B, KANSL1, VDR, DVL1, PEX3, SLC16A2, CCDC8, SEC24D, FREM2, MAF, DHODH, CENPJ, PEX1, DLG3, PAX3, SLC9A6, ASXL1, CYP19A1, NR5A1, XYLT1, HYLS1, GATA6, IGF1R, EIF2AK3, SLC52A3, FRAS1, LRP4, CRYAB, APC, FLNB, STRA6, ADA, SMAD3, ALDH18A1, HSPG2, NEB, SKI, LMNA, IGBP1, IKBKG, TAF6, TRAPPC2, KDM1A, WNT5A, EIF4A3, IGHMBP2, STK11, FMR1, PPP1R15B, COL1A1, BMPER, MBTPS2, CPT2, COL2A1, ACOX1, NF1, RARB, ACTA1, FKBP10, GRIP1, TWIST2, SLC2A10, LZTR1, ANOS1, EDA, MMP13, CEP152, GAA, MET, SLC25A46, HSD17B3, MPC1, GLIS3, ICK, TNFRSF1A, WDR11, GSC, RPS6KA3, PAM16, GLB1, TGFB2, PTDSS1, EXT1, LMX1B, BICD2, SNRPB, RAPSN, KIF1B, SEMA3A, FHL1, MYH2, FBN1, IHH, POLD1, RPS19, PTEN, TRPV4, AMER1, CHRND, ABCC6, NRAS, FAT4, B3GAT3, CENPE, ATP7A, PCNT, ABCC9, PLOD2, CLASP1, RET, TMEM165, HRAS, TACR3, SERPINF2, NPR2, PRLR, CYP17A1, KIF1BP, PTPRF, CD96, KISS1, CHRNG, TBCE, PIGT, EBP, TBX3, COL5A1, KISS1R, RBM28, SOX10, IBA57, SGCB, MARS2, ALG2, EFEMP2, COL13A1, WNT4, XYLT2, ATP6V0A2, CYP2R1, PTCH1, WNT7A, CTSK, FBLN5, EVC2, AKT2, CANT1, MEGF10, HS6ST1, AGRN, WNT1, TGFBR1, ORC6, ZBTB16, EYA1, PROKR2, SEC23B, DPAGT1, GJA1, SOX9, USP9X, RPS28, TGFB3, PLS3, RAB33B, CHRNA1, KRAS, C19orf12, VCP, MED12, PIEZO1, FOXL2, ARSB, B3GALT6, WDR34, CHRM3, HGSNAT, RUNX2, GLE1, FLNA, BIN1, HCCS, HSD17B4, EXT2, ORC1, INSR, KIAA0196, SERPINH1, FGFR2, RPL11, NKX3-2, GPC3, TBX6, KCNJ2, IFT80, GNRH1, MYH11, ATR

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, ?PRUNE BELLY SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, INCONTINENTIA PIGMENTI, BENT BONE DYSPLASIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PERIODIC FEVER, FAMILIAL, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, METATROPIC DYSPLASIA, MENTAL RETARDATION, X-LINKED 90, HYPOPHOSPHATASIA, INFANTILE, OSTEOGENESIS IMPERFECTA, TYPE III, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

PTCH1, DNM2, DLG3, SMAD3, BIN1, COL1A1, SMAD4, NOTCH1, ACTB, IKBKG, COL3A1, HDAC6, FLNA, BUB1B, FGFR1, SLC9A6, TNFRSF1A, SOS1, RIPK4, GJA1, FGFR2, IGF1R, FMR1, ALPL, TGFBR1, APC, HRAS, GNRH1, PEX5, TRPV4, HSPG2, CHRM3, PAM16, PTEN

THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PYCNODYSOSTOSIS, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, MUCOPOLYSACCHARIDOSIS IVA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2

ACTA1, LRP2, NAGLU, TGFB2, CBL, AGRN, GUSB, ARSB, COL1A1, HSPG2, GLB1, DVL1, NOTCH1, CTSK, GPC3, IDUA, GNS, GALNS

SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, ALSTROM SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CEREBROCOSTOMANDIBULAR SYNDROME, 3-M SYNDROME 3, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MEIER-GORLIN SYNDROME 1, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, OLIGODONTIA-COLORECTAL CANCER SYNDROME, SECKEL SYNDROME 7, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, HYDROLETHALUS SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LYSYL HYDROXYLASE 3 DEFICIENCY, CRANIOECTODERMAL DYSPLASIA 1, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, 3-M SYNDROME 1, WEAVER SYNDROME, WIEACKER-WOLFF SYNDROME, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SECKEL SYNDROME 5, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CRANIOECTODERMAL DYSPLASIA 3, JOUBERT SYNDROME 21, WAARDENBURG SYNDROME, TYPE 1, ELLIS-VAN CREVELD SYNDROME, CORNELIA DE LANGE SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, ?SECKEL SYNDROME 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CRANIOECTODERMAL DYSPLASIA 2, MEIER-GORLIN SYNDROME 4, LOEYS-DIETZ SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, MYHRE SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY

ACTA1, EVC, SOX9, IFT140, ZC4H2, DLG3, OFD1, XRCC4, CEP120, AXIN2, GLE1, TFAP2A, PTEN, VPS37A, ACTB, ALMS1, GNAS, IKBKG, HYLS1, ARL2BP, HDAC6, VCP, BUB1B, APC, NIN, CUL4B, IFT43, TUBB, NEK1, CEP152, CREBBP, TAF6, KDM1A, CENPE, WDR35, RUNX2, CDC6, CSPP1, RIPK4, SEMA3A, SOX10, SOS1, FHL1, PLOD3, DVL1, TBCE, CBL, UBE2A, IFT172, NME1, CLASP1, SNRPB, PAX3, DNM2, CDT1, POLD1, CUL7, NOTCH1, WDR34, EZH2, ZBTB16, IFT80, ORC1, ADA, POC1A, SMAD4, CCDC8, SMAD3, KIAA0586, ATR, HSPG2, TGFBR2, IFT122, PAM16, CENPJ, EYA1, SKI, PCNT

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MULTIPLE FIBROADENOMAS OF THE BREAST, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MYOTUBULAR MYOPATHY, X-LINKED, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MEIER-GORLIN SYNDROME 1, CONGENITAL DIAPHRAGMATIC HERNIA, ?HYPERPROLACTINEMIA, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, JOHANSON-BLIZZARD SYNDROME, COFFIN-LOWRY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, LUJAN-FRYNS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MICROPHTHALMIA, SYNDROMIC 12, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, KOOLEN-DE VRIES SYNDROME, OPSISMODYSPLASIA, BORJESON-FORSSMAN-LEHMANN SYNDROME, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, HOLT-ORAM SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HAY-WELLS SYNDROME, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SHWACHMAN-DIAMOND SYNDROME, WEAVER SYNDROME, NOONAN SYNDROME 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, MEIER-GORLIN SYNDROME 3, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, ABLEPHARON-MACROSTOMIA SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, FRAGILE X SYNDROME, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NESTOR-GUILLERMO PROGERIA SYNDROME, AYME-GRIPP SYNDROME, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, BARBER-SAY SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, SECKEL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME

LMNA, KMT2A, DIS3L2, NAA10, ACTB, IKBKG, EIF4A3, KDM1A, CDC6, KDM6A, STK11, FMR1, WT1, ERCC6, PPP1R15B, DNM2, CDT1, ERCC2, TGFBR2, CREBBP, SF3B4, SBDS, RARB, ACTA1, SOX9, GRIP1, XRCC4, SOX2, RBM8A, TWIST2, LZTR1, NME1, NOTCH1, BUB1B, TAF6, AKT2, MMP13, TGFBR1, ORC6, TNFRSF1A, ZBTB16, GSC, CHD7, RPS6KA3, TP63, UPF3B, MCM8, ORC4, BANF1, UBE2A, SMAD4, DVL3, UBR1, HDAC6, FLNA, SNRPB, RAPSN, TUBB, TBX5, TNFRSF11B, INPPL1, VDR, IGF1R, MED12, EZH2, GLI3, POLD1, NOTCH3, RPS19, PTEN, IL1RN, MAF, KANSL1, RUNX2, AIP, GLE1, AR, DLG3, MYH11, HNRNPK, PAX3, PHF6, NR5A1, CENPE, GATA6, VCP, EIF2AK3, PRLR, ORC1, INSR, SOS1, NIPBL, EDARADD, RPL11, CRYAB, CLASP1, RET, HRAS, GNRH1, SMAD3, BAG3, ATR, ESR1, SKI

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WEAVER SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SECKEL SYNDROME 1, PREMATURE OVARIAN FAILURE 8, ANDROGEN INSENSITIVITY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, NOONAN SYNDROME 10, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MEIER-GORLIN SYNDROME 3, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BOHRING-OPITZ SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADULT SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, DENYS-DRASH SYNDROME, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MEIER-GORLIN SYNDROME 1, LIMB-MAMMARY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MEIER-GORLIN SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LUJAN-FRYNS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CORNELIA DE LANGE SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, JOHANSON-BLIZZARD SYNDROME, AU-KLINE SYNDROME

PEX5, SOX9, STAG3, ASXL1, SMAD3, SOX2, ORC4, HNRNPK, SMAD4, CREBBP, AR, UBE2A, CENPE, HDAC6, BUB1B, EYA1, ESR1, ORC1, TAF6, KDM1A, UBR1, CDC6, KMT2A, SOX10, VDR, NIPBL, LZTR1, MED12, WT1, ERCC6, TTC21B, RET, ORC6, POLD1, NOTCH1, EZH2, NOTCH3, ACTB, GSC, MYH11, TFAP2A, ATR, TP63, RUNX2, SF3B4, PTEN, PAX3

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, COLE-CARPENTER SYNDROME 2, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, MUCOLIPIDOSIS II ALPHA/BETA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EXOSTOSES, MULTIPLE, TYPE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, COFFIN-LOWRY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, YUNIS-VARON SYNDROME, OCCIPITAL HORN SYNDROME, WRINKLY SKIN SYNDROME, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MARTSOLF SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, LIMB-MAMMARY SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?TETRA-AMELIA SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, MUCOLIPIDOSIS III ALPHA/BETA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOGLOPHONIC DYSPLASIA, NESTOR-GUILLERMO PROGERIA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, MUCOLIPIDOSIS III GAMMA, WAARDENBURG SYNDROME, TYPE 1, DESBUQUOIS DYSPLASIA 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, DESBUQUOIS DYSPLASIA 1, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, SMITH-MCCORT DYSPLASIA 2, VAN MALDERGEM SYNDROME 2, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, ANDROGEN INSENSITIVITY, ?MICROPHTHALMIA, SYNDROMIC 1, 46,XX SEX REVERSAL, TYPE 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, SMED STRUDWICK TYPE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADULT SYNDROME, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, OSTEOGENESIS IMPERFECTA, TYPE XV, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, HAMAMY SYNDROME, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, LOEYS-DIETZ SYNDROME 4, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

DNM2, IRX5, COL1A1, NAA10, ACTB, GNAS, IKBKG, COL1A2, MGAT2, B3GALT6, WNT5A, SOX10, STK11, RAB3GAP2, WT1, CLASP1, GNPTAB, DES, JAG1, MBTPS2, WNT4, SMAD4, NRAS, COL2A1, ATP6V0A2, PTEN, FIG4, ACTA1, WNT7A, EXT1, GRIP1, KRAS, FKTN, MAP2K2, NME1, PIGT, NOTCH1, CBS, FGFR1, EDA, MMP13, LEP, CANT1, CBL, HS6ST1, MET, AGRN, TGFBR1, TNFRSF1A, NOTCH3, RPS6KA3, TP63, VCP, RARB, SEC23B, TMEM165, BANF1, GPC3, GLB1, GNPTG, GJA1, SOX9, XYLT2, RPS28, CHST14, TMCO1, HDAC6, TGFB2, RAB33B, PQBP1, SNRPB, TUBB, ROR2, IGF1R, TANGO2, ARSB, SEC24D, MUSK, CHRM3, RUNX2, CHST3, AR, FLNA, BIN1, HNRNPK, PAX3, B3GAT3, XYLT1, FAT4, CENPE, GATA6, DVL1, ATP7A, EXT2, INSR, FGFR2, LRP5, WNT1, B4GALT7, APC, HRAS, LRP2, SMAD3, HSPG2, ESR1, MEGF10, FLNB, WNT3

BASAL CELL NEVUS SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, OTOPALATODIGITAL SYNDROME, TYPE II, ALSTROM SYNDROME, SHWACHMAN-DIAMOND SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, CRANIOECTODERMAL DYSPLASIA 2, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, FRASER SYNDROME, PYCNODYSOSTOSIS, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, COFFIN-LOWRY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NOONAN SYNDROME 10, BENT BONE DYSPLASIA SYNDROME, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, OLIGODONTIA-COLORECTAL CANCER SYNDROME, SECKEL SYNDROME 7, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, LUJAN-FRYNS SYNDROME, BOHRING-OPITZ SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, FRANK-TER HAAR SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, DENYS-DRASH SYNDROME, HYDROLETHALUS SYNDROME, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, KOOLEN-DE VRIES SYNDROME, OPSISMODYSPLASIA, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), VAN DEN ENDE-GUPTA SYNDROME, SCLEROSTEOSIS 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CRANIOECTODERMAL DYSPLASIA 1, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, 3-M SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, WIEACKER-WOLFF SYNDROME, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, NOONAN SYNDROME 4, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SECKEL SYNDROME 5, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, 3-M SYNDROME 3, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, CRANIOECTODERMAL DYSPLASIA 3, JOUBERT SYNDROME 21, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, ELLIS-VAN CREVELD SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, ?SECKEL SYNDROME 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, FRAGILE X SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, ?MICROPHTHALMIA, SYNDROMIC 1, SECKEL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, TARP SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADULT SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MEIER-GORLIN SYNDROME 1, SIALURIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, PLOD3, CEP120, KISS1, ICK, NAA10, ORC1, ACTB, IGBP1, IKBKG, VPS37A, PIGT, KDM1A, WDR35, CDC6, GJA1, EIF4A3, KMT2A, TBCE, LIPE, WT1, CLASP1, SUFU, DNM2, DES, CDT1, PTPN11, AR, BMPER, JAG1, ERCC2, EMD, TGFBR2, KIAA0586, CREBBP, GNE, DYNC2H1, SF3B4, MUSK, PCNT, ACTA1, SOX9, RPS28, GRIP1, WDR34, KRAS, AXIN2, CBL, MAP2K2, TFAP2A, NME1, ALMS1, SEMA3E, IFT172, BUB1B, FGFR1, TAF6, SCARF2, AKT2, XRCC4, POC1A, CEP152, MEGF10, MET, TPM2, RBM10, CSPP1, TNNT1, MPC1, FMR1, GPX4, TGFBR1, FGFR3, CUL7, TNFRSF1A, ZBTB16, TNNT2, EYA1, PLOD2, RPS6KA3, TP63, DVL3, IFT140, BRAF, PAM16, EVC, ALPL, ZC4H2, UBE2A, TGFB2, SMAD4, SBDS, CTSK, ARL2BP, HDAC6, FLNA, NIN, KIF1B, USP9X, TUBB, CCDC8, RIPK4, BIN1, INPPL1, FHL1, DVL1, MED12, MYH2, FBN1, SH3PXD2B, EZH2, POLD1, KISS1R, TTN, EFNB1, PEX5, TRPV4, LZTR1, CRYAB, GNRH1, CHRM3, KANSL1, RUNX2, CENPJ, IFT122, LRP4, GLE1, CUL4B, HSD17B4, DLG3, MYH11, SEMA3A, HNRNPK, PTCH1, PAX3, NOTCH1, ASXL1, CENPE, MAPRE2, VCP, IFT43, ESR1, NEK1, INSR, HYLS1, SOS1, KIF7, FGFR2, FEZF1, OFD1, GNAS, SNRPB, TBX6, APC, PTEN, HRAS, LRP2, IFT80, ADA, SMAD3, ATR, HSPG2, NEB, FLNB, SOX10, SKI

LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GM1-GANGLIOSIDOSIS, TYPE I, INCONTINENTIA PIGMENTI, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SIALIC ACID STORAGE DISORDER, INFANTILE, LEPRECHAUNISM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, GLYCOGEN STORAGE DISEASE II, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, ADULT SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, WRINKLY SKIN SYNDROME, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), STICKLER SYNDROME, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE IIID, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, LIMB-MAMMARY SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPOPHOSPHATASIA, INFANTILE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, PYCNODYSOSTOSIS, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IH, COLE DISEASE, LOEYS-DIETZ SYNDROME 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUCOPOLYSACCHARIDOSIS IVA, ?PRUNE BELLY SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2

ACTA1, TGFBR1, GLB1, KRAS, COL1A1, SMAD4, CTSK, GPC3, GNAS, GNS, NOTCH1, HDAC6, TGFB2, GUSB, ENPP1, IKBKG, TUBB, CHRM3, INSR, GALNS, SOS1, IDUA, CBL, SLC17A5, HGSNAT, DVL1, AGRN, ARSB, TNNT1, ALPL, NAGLU, DNM2, CTNS, ATP6V0A2, HRAS, LRP2, WDR11, ACTB, SMAD3, HSPG2, TP63, VCP, GAA, TMEM165, COL2A1

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, WIEACKER-WOLFF SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SECKEL SYNDROME 7, MULTIPLE ENDOCRINE NEOPLASIA IIB, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, RESTRICTIVE DERMOPATHY, LETHAL, CONGENITAL DIAPHRAGMATIC HERNIA, WAARDENBURG SYNDROME, TYPE 1, MALOUF SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, CORNELIA DE LANGE SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, ?SECKEL SYNDROME 4, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE)

ACTA1, LMNA, CUL4B, ACTB, CEP120, PAX3, ZC4H2, HDAC6, NIN, KIF1B, NEK1, TAF6, PCNT, POC1A, CLASP1, OFD1, RET, WDR34, SMAD4, CREBBP, PAM16, CENPJ

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CATSHL SYNDROME, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, SADDAN, COFFIN-LOWRY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, OCCIPITAL HORN SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, SCLEROSTEOSIS 2, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ANDERSEN SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, SECKEL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, SIALURIA, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, LEOPARD SYNDROME 1

WNT5A, COL1A1, ACTB, NALCN, GNAS, IKBKG, UBE2A, IGHMBP2, STK11, FMR1, CLASP1, BAG3, KISS1, DNM2, DES, EFEMP2, JAG1, TGFBR2, CREBBP, EFNB1, SOX2, SF3B4, NF1, ACTA1, WNT7A, GRIP1, KRAS, AR, NOTCH1, FGFR1, LEP, AKT2, CBL, AGRN, TGFBR1, TNFRSF1A, ZBTB16, RPS6KA3, TP63, VCP, BRAF, PAM16, GJA1, SOX9, TGFB2, SMAD4, USP9X, DVL3, LMX1B, HDAC6, FLNA, APC, GDF2, PQBP1, KIF1B, SLC9A6, TUBB, BIN1, VDR, DVL1, IHH, GLI3, GNE, PEX5, FGFR3, MUSK, CHRM3, RUNX2, LRP4, DLG3, MYH11, SEMA3A, PTPN11, IGF1R, ATP7A, CENPE, SOS1, FGFR2, LRP5, RPL11, SNRPB, RET, KCNJ2, PTEN, HRAS, EIF2AK3, GNRH1, SMAD3, ATR, HSPG2, ESR1, CYP17A1, PTPRF

FIBROCHONDROGENESIS 1, FIBROCHONDROGENESIS 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT

COL11A1, COL11A2, SOX10

BASAL CELL NEVUS SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OTOPALATODIGITAL SYNDROME, TYPE II, ALSTROM SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOTUBULAR MYOPATHY, X-LINKED, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, METATROPIC DYSPLASIA, ARTERIAL TORTUOSITY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, SADDAN, COFFIN-LOWRY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SECKEL SYNDROME 1, PEUTZ-JEGHERS SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, OCCIPITAL HORN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, KEUTEL SYNDROME, MALOUF SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, 3-M SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SECKEL SYNDROME 9, CORNELIA DE LANGE SYNDROME 1, ?SECKEL SYNDROME 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ACROCAPITOFEMORAL DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, COLE-CARPENTER SYNDROME 2, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RESTRICTIVE DERMOPATHY, LETHAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, TARP SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, BRACHYOLMIA TYPE 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

ACTA1, PTCH1, LMNA, SMAD3, TGFBR1, GLB1, TRPV4, KMT2A, TRAIP, SEC24D, MAP2K2, SLC2A10, SMAD4, CREBBP, NME1, SP7, GNAS, KRAS, IKBKG, CENPE, RPS6KA3, GATA6, HDAC6, DLG3, ATP7A, TAF6, BUB1B, APC, TUBB, ACTB, INSR, TRAPPC2, LEP, PTPN11, FLNA, RUNX2, CDC6, IHH, GJA1, EIF4A3, SOS1, ESR1, CBL, FGFR1, STK11, DVL1, MET, ITGA3, RBM10, LRP2, TNNT1, HNRNPK, ALPL, COL1A1, DNM2, DES, FGFR3, ALG2, POLD1, KIF1BP, HRAS, COL1A2, EFEMP2, ZBTB16, GNRH1, CENPJ, MUSK, ALMS1, ATR, HSPG2, MGP, CHRM3, VCP, SEC23B, CUL7, SF3B4, PTEN

LOEYS-DIETZ SYNDROME 1, SHPRINTZEN-GOLDBERG SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FRASER SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, LEPRECHAUNISM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PERIODIC FEVER, FAMILIAL, 46,XX SEX REVERSAL, TYPE 2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MYOTUBULAR MYOPATHY, X-LINKED, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, HYPOPHOSPHATASIA, INFANTILE, OTOPALATODIGITAL SYNDROME, TYPE I, MARFAN LIPODYSTROPHY SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, LEOPARD SYNDROME 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

SOX9, GPC3, GRIP1, COL1A1, SMAD4, DVL3, DNM2, NOTCH1, GATA6, FLNA, TBX3, LEP, INSR, PTPN11, SOX10, IGF1R, AGRN, CLASP1, TGFBR1, ALPL, FBN1, RET, COL1A2, PTEN, TNFRSF1A, MUSK, SMAD3, HSPG2, KIF1BP, GSC

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, NAIL-PATELLA SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LOEYS-DIETZ SYNDROME 5, MILLER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ANDROGEN INSENSITIVITY, SCLEROSTEOSIS 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, OTOPALATODIGITAL SYNDROME, TYPE I, 3MC SYNDROME 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?DYSTONIA, JUVENILE-ONSET, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), FRONTOMETAPHYSEAL DYSPLASIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, OCCIPITAL HORN SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ESTROGEN RESISTANCE, METATROPIC DYSPLASIA, SCLEROSTEOSIS 2, CONGENITAL DIAPHRAGMATIC HERNIA, ANDERSEN SYNDROME, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, LOEYS-DIETZ SYNDROME 3, MENTAL RETARDATION, X-LINKED 90, BRACHYOLMIA TYPE 3, RUBINSTEIN-TAYBI SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, LOEYS-DIETZ SYNDROME 4, SIALURIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL

ACTA1, PTCH1, WNT7A, RET, TGFB2, TRPV4, SEMA3A, MASP1, KISS1, GNRH1, SMAD4, PMM2, AR, UBE2A, GNAS, FLNA, SOST, LMX1B, PTH1R, TGFB3, DLG3, ATP7A, BUB1B, GDF2, LEP, PEX5, RAPSN, INSR, NOTCH1, AKT2, SOS1, GJA1, LRP4, UBA1, IGF1R, AGRN, LRP5, TGFBR1, DVL1, DNM2, GLI3, KCNJ2, DHODH, HRAS, EZH2, ZBTB16, GNE, ACTB, MUSK, SMAD3, PAX3, CREBBP, ADA, ESR1, CYP17A1, PAM16, SF3B4, GSC

BASAL CELL NEVUS SYNDROME, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, MEIER-GORLIN SYNDROME 1, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MUCOLIPIDOSIS II ALPHA/BETA, MULTIPLE SYNOSTOSES SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE VIII, EXOSTOSES, MULTIPLE, TYPE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, RAINE SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, LUJAN-FRYNS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MARTSOLF SYNDROME, SCLEROSTEOSIS 2, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, ACHONDROGENESIS, TYPE IA, MALOUF SYNDROME, MUCOLIPIDOSIS III ALPHA/BETA, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SCLEROSTEOSIS 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DYGGVE-MELCHIOR-CLAUSEN DISEASE, GLYCOGEN STORAGE DISEASE II, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, ALAGILLE SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XIII, ANDERSEN SYNDROME, MUCOLIPIDOSIS III GAMMA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, SMITH-MCCORT DYSPLASIA 2, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, WOLCOTT-RALLISON SYNDROME, SECKEL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADULT SYNDROME, SMITH-MCCORT DYSPLASIA, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, EXOSTOSES, MULTIPLE, TYPE 2, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, DNM2, WNT5A, COL1A1, ACTB, PIGT, IKBKG, COL1A2, ALPL, TRAPPC2, UBA1, CDC6, GJA1, SOX10, STK11, NOG, CLASP1, GNPTAB, DES, SERPINH1, EFEMP2, JAG1, ERCC2, FGD1, SMAD4, CREBBP, P3H1, COL2A1, CUL7, PEX5, ACTA1, SOX9, TGFB2, KRAS, FGFR2, MAP2K2, LZTR1, NME1, SP7, GNAS, NOTCH1, FGFR1, LEP, AKT2, CBL, MET, AGRN, ICK, GLIS3, GPX4, TGFBR1, DYNC2H1, TNFRSF1A, DYM, ZBTB16, TNNT2, GSC, TP63, TMEM165, FAM20C, GPC3, GLB1, GNPTG, BMP1, SUFU, RAB3GAP2, EXT1, PTH1R, HDAC6, FLNA, RAB33B, BICD2, KIF1B, RAPSN, TUBB, TRIP11, INPPL1, VDR, VCP, MED12, FBN1, HNRNPK, ARSB, TTN, EFNB1, MYH2, TFAP2A, GAA, RUNX2, LRP4, DLG3, BIN1, HCCS, B3GAT3, PTPN11, GATA6, ATP7A, EXT2, ORC1, SOST, SOS1, FKTN, LRP5, CRYAB, B4GALT7, KCNJ2, HRAS, LRP2, EIF2AK3, SMAD3, ATR, HSPG2, ESR1

?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, CRANIOECTODERMAL DYSPLASIA 1, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, CRANIOECTODERMAL DYSPLASIA 3, CRANIOECTODERMAL DYSPLASIA 2, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, ?CRANIOECTODERMAL DYSPLASIA 4, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY

IFT140, WDR19, IFT43, TTC21B, IFT172, WDR35, IFT122

BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BRUCK SYNDROME 1, ADULT SYNDROME, DONNAI-BARROW SYNDROME, CHIME SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, COLE-CARPENTER SYNDROME 2, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, LYMPHEDEMA, HEREDITARY, III, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, LOEYS-DIETZ SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, PETERS-PLUS SYNDROME, LATERAL MENINGOCELE SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, 3MC SYNDROME 1, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, MEIER-GORLIN SYNDROME 5, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, SECKEL SYNDROME 1, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, SPONDYLOOCULAR SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, OCCIPITAL HORN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, LIMB-MAMMARY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, LEGIUS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AROMATASE EXCESS SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, NAIL-PATELLA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, SCHNECKENBECKEN DYSPLASIA, 46XY SEX REVERSAL 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, DESBUQUOIS DYSPLASIA 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, DESBUQUOIS DYSPLASIA 1, ANDROGEN INSENSITIVITY, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, WOLCOTT-RALLISON SYNDROME, MUSCULAR DYSTROPHY, RIGID SPINE, 1, PERIODIC FEVER, FAMILIAL, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CHILD SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, STICKLER SYNDROME, TYPE I, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ULNAR-MAMMARY SYNDROME, 3-M SYNDROME 1, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COWDEN SYNDROME 7, MENTAL RETARDATION, X-LINKED 90, CHONDRODYSPLASIA, BLOMSTRAND TYPE, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, PALLISTER-HALL SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EXOSTOSES, MULTIPLE, TYPE 2, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, COLE DISEASE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, CONGENITAL DIAPHRAGMATIC HERNIA, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, EZH2, PLOD3, KISS1, FKBP10, LBR, GNAS, IKBKG, COL1A2, EBP, ALPL, B3GLCT, ENPP1, EVC2, PTDSS1, PCYT1A, NSDHL, GJA1, G6PC3, KISS1R, STK11, LIPE, ITGA3, CLASP1, NPR2, COL1A1, DNM2, DES, ALG2, SERPINH1, EMD, TGFBR2, SMAD4, CREBBP, COL2A1, CUL7, SF3B4, SEC24D, CYP2R1, ACTA1, SHOC2, ACTB, GRIP1, KRAS, MEGF10, ABCC6, LZTR1, AR, GPC3, SLC34A3, PIGT, NOTCH1, BUB1B, CBS, FGFR1, EDA, LEP, ALG11, AGRN, CANT1, ESR1, CBL, MET, SPRED1, HSD17B3, FMR1, TGFBR1, TNFRSF1A, ABCD4, TBX3, NOTCH3, GSC, CYP21A2, RPS6KA3, TP63, DVL3, VCP, SEC23B, EVC, BANF1, RET, GLB1, UBE2A, SOX9, XYLT2, EXT1, TMCO1, LMX1B, PTH1R, HDAC6, FLNA, GDF2, PQBP1, CHRNA1, SLC9A6, RAPSN, TUBB, DDR2, INPPL1, VDR, FHL1, UBA1, IGF1R, PIEZO1, FOXL2, IHH, GLI3, CDC6, ARSB, RPS19, EFNB1, PTEN, TRPV4, TFAP2A, ADA, CHRM3, EIF4A3, RUNX2, NME1, DLG3, MYH11, BIN1, MASP1, HNRNPK, SEPN1, PIGN, CYP19A1, PIGL, XYLT1, NR5A1, CENPE, GATA6, DVL1, ATP7A, C19orf12, INSR, PTPN11, SOS1, SLC35D1, PTCH1, BRAF, RPL11, MAPRE2, ZMPSTE24, PLOD2, FBN1, DPAGT1, CTNS, HRAS, LRP2, EIF2AK3, GNRH1, SERPINF2, SMAD3, ATR, HSPG2, EXT2, CYP17A1, KIF1BP, SOX10, PTPRF, HPGD

THANATOPHORIC DYSPLASIA, TYPE II, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LARSEN SYNDROME, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, DENYS-DRASH SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, VAN DEN ENDE-GUPTA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CORNELIA DE LANGE SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

ACTA1, LMNA, DNM2, FLNA, MYH11, BIN1, FGFR2, MAP2K2, DES, SMAD4, AR, GPC3, TRPV4, IGBP1, PIGT, NOTCH1, TPM2, KRAS, EIF2AK3, LEP, GJA1, TUBB, FGFR1, TAF6, MET, KIF1B, KDM1A, PTPN11, HNRNPK, SERPINH1, KMT2A, INPPL1, ESR1, FHL1, CBL, WT1, AGRN, ITGA3, ACTB, TNNT1, COL1A1, TGFBR1, RET, PTPRF, SOS1, HRAS, LRP2, JAG1, RPS19, GNRH1, SCARF2, TGFBR2, HES7, FGFR3, HSPG2, CHRM3, DDR2, EIF4A3, BRAF, FLNB, SF3B4, PTEN, ARHGAP31

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, THANATOPHORIC DYSPLASIA, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DONNAI-BARROW SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CATSHL SYNDROME, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, SADDAN, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, 3MC SYNDROME 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, OCCIPITAL HORN SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, MARTSOLF SYNDROME, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, SCLEROSTEOSIS 2, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SCLEROSTEOSIS 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MILLER SYNDROME, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CHONDRODYSPLASIA, BLOMSTRAND TYPE, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ANDERSEN SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, WAARDENBURG SYNDROME, TYPE 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, SECKEL SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, SIALURIA, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

LMNA, EZH2, WNT5A, COL1A1, ACTB, NALCN, IGBP1, IKBKG, COL3A1, PMM2, UBA1, CDC6, GJA1, SOX10, IGHMBP2, STK11, FMR1, KIF1B, ITGA3, NF1, CLASP1, NPR2, KISS1, DNM2, DES, EFEMP2, JAG1, EMD, TGFBR2, SMAD4, CREBBP, GNE, SOX2, SF3B4, PTEN, ACTA1, WNT7A, GRIP1, TRPV4, KRAS, MEGF10, TFAP2A, AR, GNAS, NOTCH1, BUB1B, FGFR1, MET, LEP, AKT2, CBL, MMP13, AGRN, TNNT1, TGFBR1, TGFB3, DHODH, TNFRSF1A, ZBTB16, GSC, RPS6KA3, TP63, VCP, BRAF, PAM16, PTCH1, UBE2A, TGFB2, RAB3GAP2, USP9X, DVL3, LMX1B, PTH1R, HDAC6, FLNA, KCNJ2, GDF2, PQBP1, CHRNA1, SLC9A6, RAPSN, TUBB, RIPK4, BIN1, VDR, PCYT1A, IGF1R, FBN1, IHH, EIF2AK3, GLI3, SOST, EFNB1, PEX5, FGFR3, MUSK, MAF, GNRH1, CHRM3, RUNX2, EYA1, LRP4, DLG3, MYH11, SEMA3A, MASP1, HCCS, PAX3, NR5A1, CENPE, MAPRE2, DVL1, ATP7A, ESR1, INSR, PTPN11, SOS1, FGFR2, LRP5, RPL11, SNRPB, RET, APC, HRAS, LRP2, TACR3, ADA, SMAD3, BAG3, ATR, HSPG2, NEB, CYP17A1, PTPRF

SHPRINTZEN-GOLDBERG SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, PERIODIC FEVER, FAMILIAL, 46,XX SEX REVERSAL, TYPE 2, GAPO SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DONNAI-BARROW SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, MYOTUBULAR MYOPATHY, X-LINKED, CHONDRODYSPLASIA, BLOMSTRAND TYPE, OCCIPITAL HORN SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, METATROPIC DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OPSISMODYSPLASIA, ELLIS-VAN CREVELD SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MEIER-GORLIN SYNDROME 5, ROBINOW SYNDROME, BRACHYOLMIA TYPE 3, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ?PRUNE BELLY SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, COFFIN-LOWRY SYNDROME

ACTA1, EVC, SOX9, BANF1, DNM2, DLG3, TRPV4, SOX2, SMAD4, DVL3, PIGT, CHRM3, NOTCH1, FLNA, HSPG2, PTH1R, VCP, ATP7A, EVC2, RAPSN, LEP, TNFRSF1A, AKT2, CDC6, GJA1, INPPL1, CBL, DVL1, MET, AGRN, ITGA3, RUNX2, ICK, ALPL, FBN1, RET, APC, SOS1, HRAS, LRP2, TACR3, ADA, ACTB, SMAD3, NME1, RPS6KA3, ANTXR1, KIF1BP