CHEST

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, ?PRUNE BELLY SYNDROME, ROBINOW SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, 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, OTOPALATODIGITAL SYNDROME, TYPE II, INCONTINENTIA PIGMENTI, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, FAMILIAL, ANDROGEN INSENSITIVITY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 46,XX SEX REVERSAL, TYPE 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DONNAI-BARROW SYNDROME, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS-NOONAN SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, CONGENITAL DIAPHRAGMATIC HERNIA, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, OTOPALATODIGITAL SYNDROME, TYPE I, WAARDENBURG SYNDROME, TYPE 1, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 5, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, DIAPHANOSPONDYLODYSOSTOSIS, LUJAN-FRYNS SYNDROME, LOEYS-DIETZ SYNDROME 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, LEOPARD SYNDROME 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, SOX9, AR, TGFB2, SOX2, AXIN2, SUFU, SMAD4, DVL3, IKBKG, FLNA, NOTCH1, HDAC6, LRP5, GJA1, TUBB, CHRM3, EDA, LEP, TNFRSF1A, AKT2, PCNT, EDARADD, VDR, WNT5A, UBA1, DVL1, MET, MED12, GLIS3, TGFBR1, TGFB3, GLI3, PTPN11, HRAS, LRP2, BMPER, IFT80, RPS19, EMD, ACTB, NF1, SMAD3, PAX3, CREBBP, ESR1, PROK2, RUNX2, EZH2, PTEN

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, NESTOR-GUILLERMO PROGERIA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, PEUTZ-JEGHERS SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LOEYS-DIETZ SYNDROME 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, OTOPALATODIGITAL SYNDROME, TYPE I, DIAMOND-BLACKFAN ANEMIA 7, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, MALOUF SYNDROME, LOEYS-DIETZ SYNDROME 3, MANDIBULOACRAL DYSPLASIA, RUBINSTEIN-TAYBI SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, LOEYS-DIETZ SYNDROME 4, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, AU-KLINE SYNDROME

GLE1, BANF1, TGFB2, SOX2, RBM8A, LMNA, HNRNPK, SMAD4, DVL3, CENPE, PTH1R, TGFB3, FLNA, SOX9, SNRPB, TRPS1, WNT5A, SOX10, VDR, STK11, DVL1, RPL11, GATA6, IHH, TBX6, POLD1, EFEMP2, RPS19, TGFBR2, SMAD3, CREBBP, ESR1, UPF3B, RUNX2, PTEN

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DONNAI-BARROW SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LOEYS-DIETZ SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, COFFIN-LOWRY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FRAGILE X SYNDROME, LIMB-MAMMARY SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HAY-WELLS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SED CONGENITA, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MEIER-GORLIN SYNDROME 4, ACROCAPITOFEMORAL DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, 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, ANDROGEN INSENSITIVITY, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, SMED STRUDWICK TYPE, STICKLER SYNDROME, TYPE I, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

ACTA1, NRAS, RET, TGFB2, MYH11, BIN1, SOX9, HNRNPK, SMAD4, PTEN, CREBBP, AR, GNAS, IKBKG, GLI3, NOTCH1, COL1A1, RPS6KA3, GATA6, TGFB3, DLG3, FBLN5, LEP, GJA1, FGFR1, CHRM3, INSR, KDM1A, CENPE, FLNA, SOS1, IHH, SOX2, INPPL1, AIP, ESR1, FGFR2, STK11, BRAF, IGF1R, MMP13, WT1, FMR1, ITGA3, LRP2, CLASP1, TGFBR1, BAG3, CBL, DNM2, DES, CDT1, APC, PTPN11, HRAS, SERPINF2, EFEMP2, TTN, KRAS, EFNB1, ACTB, MUSK, SMAD3, COL1A2, HSPG2, GNRH1, TP63, TGFBR2, COL2A1, EZH2, GSC

NEUROFIBROMATOSIS-NOONAN SYNDROME, ?OTOFACIOCERVICAL SYNDROME, DENYS-DRASH SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CORNELIA DE LANGE SYNDROME 1, SERKAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, RUBINSTEIN-TAYBI SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MYHRE SYNDROME, NOONAN SYNDROME 4, PALLISTER-HALL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, LOEYS-DIETZ SYNDROME 3, ROBINOW SYNDROME

NIPBL, DVL3, ZBTB16, SMAD3, WNT4, WT1, NF1, CREBBP, SOX2, SMAD4, PTEN, RET, SOS1, EYA1, GLI3, NOTCH1

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, BASAL CELL NEVUS SYNDROME, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, 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, 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, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, PYCNODYSOSTOSIS, LOEYS-DIETZ SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VIII, MANDIBULOACRAL DYSPLASIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, COFFIN-LOWRY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, DENYS-DRASH SYNDROME, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, LIMB-MAMMARY SYNDROME, 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, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, NOONAN SYNDROME 10, ALAGILLE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?CHARGE SYNDROME, CHARGE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, DIAMOND-BLACKFAN ANEMIA 1, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ULNAR-MAMMARY 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, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, LEOPARD SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

ACTA1, PTCH1, SOX9, RET, TGFB2, WNT5A, MYH11, BIN1, LZTR1, SMAD3, KISS1, SERPINH1, LEP, SMAD4, CREBBP, DVL3, SEMA3A, COL1A1, KRAS, IKBKG, JAG1, NOTCH1, HSPG2, PTH1R, CHRM3, TGFB3, DLG3, TBX3, TAF6, BUB1B, GJA1, TUBB, FGFR1, P3H1, GRIP1, MET, INSR, LMNA, ROR2, FLNA, KISS1R, SOX2, INPPL1, SOS1, ESR1, MEGF10, STK11, IGF1R, MMP13, SCARF2, WT1, AR, TNNT1, LRP5, TGFBR1, GNAS, FSHB, GLIS3, CBL, DNM2, CTNS, PTEN, HRAS, CTSK, BMPER, ZBTB16, RPS19, GNRH1, RUNX2, MUSK, IL1RN, NPR2, CHD7, RPS6KA3, ADA, TP63, BAG3, TGFBR2, BRAF, PTPN11, PROK2, FLNB, SF3B4, NF1

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DONNAI-BARROW SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LOEYS-DIETZ SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, COFFIN-LOWRY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FRAGILE X SYNDROME, LIMB-MAMMARY SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HAY-WELLS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SED CONGENITA, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MEIER-GORLIN SYNDROME 4, ACROCAPITOFEMORAL DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, 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, ANDROGEN INSENSITIVITY, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, SMED STRUDWICK TYPE, STICKLER SYNDROME, TYPE I, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

ACTA1, NRAS, RET, TGFB2, MYH11, BIN1, SOX9, HNRNPK, SMAD4, PTEN, CREBBP, AR, GNAS, IKBKG, GLI3, NOTCH1, COL1A1, RPS6KA3, GATA6, TGFB3, DLG3, FBLN5, LEP, GJA1, FGFR1, CHRM3, INSR, KDM1A, CENPE, FLNA, SOS1, IHH, SOX2, INPPL1, AIP, ESR1, FGFR2, STK11, BRAF, IGF1R, MMP13, WT1, FMR1, ITGA3, LRP2, CLASP1, TGFBR1, BAG3, CBL, DNM2, DES, CDT1, APC, PTPN11, HRAS, SERPINF2, EFEMP2, TTN, KRAS, EFNB1, ACTB, MUSK, SMAD3, COL1A2, HSPG2, GNRH1, TP63, TGFBR2, COL2A1, EZH2, GSC

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGLOPHONIC DYSPLASIA, 46,XX SEX REVERSAL, TYPE 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, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, RUBINSTEIN-TAYBI SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, LOEYS-DIETZ SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WAARDENBURG SYNDROME, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

FGFR2, TGFB2, FGFR1, SOX9, CREBBP, PAX3, WNT7A, RUNX2, NOTCH1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OTOPALATODIGITAL SYNDROME, TYPE II, THANATOPHORIC DYSPLASIA, TYPE I, CHONDRODYSPLASIA, BLOMSTRAND 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, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STICKLER SYNDROME, TYPE I, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, MULTIPLE SYNOSTOSES SYNDROME 1, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, EXOSTOSES, MULTIPLE, TYPE 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, COFFIN-LOWRY SYNDROME, RAINE SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, FRANK-TER HAAR SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LIMB-MAMMARY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, ?OTOFACIOCERVICAL SYNDROME 2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, SED CONGENITA, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SCHNECKENBECKEN DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XIII, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

EVC, PTCH1, SOX9, TAPT1, EXT1, CHD7, FGFR3, SOX2, FAM20C, SUFU, PAX3, PTEN, ACTB, SP7, GNAS, GLI3, COL3A1, COL1A1, RPS6KA3, PTH1R, KRAS, ALPL, TBX3, BUB1B, COL11A2, FGFR1, MATN3, COL5A1, TRAPPC2, INSR, TRPS1, NOTCH1, TBX5, WNT4, WNT7A, FBN2, PAX1, SOX10, VDR, WNT5A, IHH, IGF1R, COL5A2, NOG, SLC35D1, EBP, ICK, TGFBR1, SH3PXD2B, FBN1, WNT1, GPC3, EIF2AK3, BMP1, TBX6, TNFRSF11B, HRAS, GATA6, NKX3-2, COL1A2, GJA1, BMPER, JAG1, ZBTB16, GNRH1, GSC, HES7, SMAD3, SMAD4, CREBBP, HSPG2, TP63, DDR2, VCP, FLNA, COL2A1, RUNX2, EZH2, SF3B4, ARSB, DLL3

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, KEUTEL SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, STICKLER SYNDROME, TYPE I, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, SMED STRUDWICK TYPE, OSTEOGENESIS IMPERFECTA, TYPE XIII, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 4, 46,XX SEX REVERSAL, TYPE 2, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, ROBINOW SYNDROME

SOX9, TGFBR1, TGFB2, COL11A1, BMP1, WNT7A, CREBBP, MGP, COL2A1, WNT5A, ROR2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, VAN MALDERGEM SYNDROME 2, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, THANATOPHORIC DYSPLASIA, TYPE II, WOLCOTT-RALLISON SYNDROME, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, LEPRECHAUNISM, FIBROCHONDROGENESIS 2, SCLEROSTEOSIS 1, THANATOPHORIC DYSPLASIA, TYPE I, BRACHYOLMIA TYPE 3, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CATSHL SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ALAGILLE SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, ESTROGEN RESISTANCE, METATROPIC DYSPLASIA, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, OSTEOGENESIS IMPERFECTA, TYPE XIII, HYPOPHOSPHATASIA, INFANTILE, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACHONDROGENESIS IB, PYCNODYSOSTOSIS, MULTIPLE SYNOSTOSES SYNDROME 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OPSISMODYSPLASIA, KEUTEL SYNDROME, EXOSTOSES, MULTIPLE, TYPE 1, LOEYS-DIETZ SYNDROME 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, EXOSTOSES, MULTIPLE, TYPE 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, RUBINSTEIN-TAYBI SYNDROME, VAN MALDERGEM SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, DIAPHANOSPONDYLODYSOSTOSIS, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, OSTEOGENESIS IMPERFECTA, TYPE III, SADDAN, ROBINOW SYNDROME

ACTA1, SOX9, BMP1, EXT1, ALPL, TRPV4, SLC26A2, AXIN2, DCHS1, COL1A1, CTSK, SP7, GNAS, FAT4, SOST, CHRM3, TGFB3, EIF2AK3, COL11A2, INSR, NOG, LEP, TBX5, WNT7A, DDR2, SEMA3A, INPPL1, ESR1, WNT5A, MMP13, NPR2, TGFBR1, FGFR3, HRAS, BMPER, JAG1, MGP, SMAD3, CREBBP, HSPG2, COL13A1, EXT2, SOX10, COL2A1, RUNX2, GDF2

LOEYS-DIETZ SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, OTOPALATODIGITAL SYNDROME, TYPE II, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, FAMILIAL, ANDROGEN INSENSITIVITY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 46,XX SEX REVERSAL, TYPE 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CONGENITAL DIAPHRAGMATIC HERNIA, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, OTOPALATODIGITAL SYNDROME, TYPE I, LOEYS-DIETZ SYNDROME 5, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, ROBINOW SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, DIAPHANOSPONDYLODYSOSTOSIS, LUJAN-FRYNS SYNDROME, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

SOX9, AR, LRP5, SOX2, HNRNPK, SMAD4, DVL3, GNAS, IKBKG, FLNA, TGFB3, DVL1, GJA1, FGFR1, INSR, EDA, LEP, TNFRSF1A, AKT2, PCNT, MED12, VDR, WNT5A, IGF1R, MET, EDARADD, PROK2, TGFBR1, GLI3, HRAS, LRP2, BMPER, IFT80, RPS19, EMD, ACTB, SMAD3, ESR1, COL2A1, RUNX2, EZH2, SF3B4, PTEN

CORNELIA DE LANGE SYNDROME 1, WEAVER SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, STICKLER SYNDROME, TYPE I, ESTROGEN RESISTANCE, HYPOPHOSPHATASIA, INFANTILE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, ?OTOFACIOCERVICAL SYNDROME, HOLT-ORAM SYNDROME, ROBINOW SYNDROME

NIPBL, ALPL, TBX5, TBX3, EYA1, SMAD3, TFAP2A, COL2A1, ESR1, SMAD4, EZH2, TBX6, WNT5A, GJA1, NOTCH1, GATA6

LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, INCONTINENTIA PIGMENTI, PERIODIC FEVER, FAMILIAL, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?DYSTONIA, JUVENILE-ONSET, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, METATROPIC DYSPLASIA, LOEYS-DIETZ SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, LEOPARD SYNDROME 3, MENTAL RETARDATION, X-LINKED 90, SERKAL SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, VAN DEN ENDE-GUPTA SYNDROME, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, DIAPHANOSPONDYLODYSOSTOSIS, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

ACTA1, SHOC2, DNM2, DLG3, SMAD3, GJA1, ACTB, IKBKG, PTPN11, HDAC6, FLNA, FGFR1, ESR1, NOTCH1, KISS1R, BIN1, CBL, SCARF2, NPR2, PROK2, TGFBR1, DES, COL1A2, APC, PTEN, HRAS, LRP2, BMPER, WNT4, ZBTB16, SERPINF2, TRPV4, TNFRSF1A, CHRM3, TGFBR2, BRAF, RUNX2, MUSK

LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 46,XX SEX REVERSAL, TYPE 2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PREMATURE OVARIAN FAILURE 7, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ADULT SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ESTROGEN RESISTANCE, LIMB-MAMMARY SYNDROME, 46XY SEX REVERSAL 3, OTOPALATODIGITAL SYNDROME, TYPE I, ?CHARGE SYNDROME, CHARGE SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, HAY-WELLS SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, CONGENITAL DIAPHRAGMATIC HERNIA, AU-KLINE SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

VDR, SOX9, UBA1, FLNA, GNRH1, SMAD3, SEMA3A, MYH11, ESR1, CLASP1, HNRNPK, TP63, USP9X, DVL1, SLC9A6, TGFBR1, DES, SEMA3E, DNM2, NR5A1, GATA6

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ROBINOW SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SED CONGENITA, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, LEOPARD SYNDROME 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SADDAN, LEOPARD SYNDROME 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, AR, SMAD3, KRAS, SHOC2, MAP2K2, SMAD4, NOTCH1, DVL3, IKBKG, PTPN11, RPS6KA3, SOX9, FGFR1, EDA, HRAS, WNT5A, VDR, STK11, BRAF, DVL1, AGRN, CRYAB, HNRNPK, RET, ROR2, GNRH1, NF1, FGFR3, CREBBP, HSPG2, ESR1, COL2A1, PTEN

LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MULTIPLE FIBROADENOMAS OF THE BREAST, VAN MALDERGEM SYNDROME 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WEAVER SYNDROME, 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, HOLT-ORAM SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BRANCHIOOCULOFACIAL SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?HYPERPROLACTINEMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, ESTROGEN RESISTANCE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 3, LIMB-MAMMARY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, VITAMIN D-DEPENDENT RICKETS, TYPE I, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

ACTA1, SOX9, DNM2, SOX2, TFAP2A, FAT4, NOTCH1, CYP27B1, TBX3, GDF2, ESR1, NOG, TBX5, SOS1, KMT2A, KDM6A, VDR, WNT5A, MET, WT1, FBN1, PRLR, RET, GLI3, APC, HRAS, EZH2, GSC, ZEB2, SMAD3, SMAD4, CREBBP, HSPG2, TP63, TGFBR2, BRAF, RUNX2, SF3B4, MYH2, PAX3

BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, 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, 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, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?HYPERPROLACTINEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, ?OTOFACIOCERVICAL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, COFFIN-LOWRY SYNDROME, RAINE SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, LUJAN-FRYNS SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LIMB-MAMMARY SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, VAN DEN ENDE-GUPTA 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, SERKAL SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, ALAGILLE SYNDROME, SED CONGENITA, SPONDYLOPERIPHERAL DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, 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, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

PTCH1, ACTA1, SOX9, DVL3, FLNA, MAF, MYH11, SOX2, FAM20C, KISS1, PEX5, SMAD4, ACTB, SP7, NR5A1, WNT5A, IKBKG, GLI3, NOTCH1, LMX1B, RPS6KA3, GATA6, DVL1, TAF6, WNT1, PLOD3, PRLR, SNRPB, NOG, LEP, FOXL2, SCARF2, ROR2, AKT2, WNT4, COL1A1, IHH, KRAS, KDM6A, HNRNPK, VDR, ESR1, FGFR2, FGFR1, STK11, IGF1R, MMP13, MED12, WT1, AR, CRYAB, TGFBR1, LRP2, GNAS, LZTR1, FBN1, RET, FGFR3, TBX6, POLD1, PTEN, HRAS, JAG1, COL1A2, EFEMP2, ALPL, EZH2, ZBTB16, ERCC2, GNRH1, MYH2, SMAD3, PAX3, CREBBP, HSPG2, TP63, TGFBR2, COL2A1, RUNX2, SOX10, SF3B4, EYA1

ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, DENYS-DRASH SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ESTROGEN RESISTANCE, LIMB-MAMMARY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HAY-WELLS SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, LEOPARD SYNDROME 1, ROBINOW SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT

WNT5A, FGFR1, STRA6, TBX3, CHD7, GNRH1, SMAD4, MUSK, WT1, ESR1, HSD17B3, TP63, PTPN11, SOX2, SOX10

LOEYS-DIETZ SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CARDIOFACIOCUTANEOUS SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, MYOTUBULAR MYOPATHY, X-LINKED, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, ESTROGEN RESISTANCE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 3, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LOEYS-DIETZ SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VITAMIN D-DEPENDENT RICKETS, TYPE I, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

VDR, CYP27B1, SOX9, BRAF, DNM2, TGFBR2, ZEB2, SMAD3, ESR1, HSPG2, SOX2, SMAD4, NOTCH1, RET, GSC, APC, GDF2, HRAS

?PRUNE BELLY SYNDROME, 3-M SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, 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, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, THANATOPHORIC DYSPLASIA, TYPE I, 46,XX SEX REVERSAL, TYPE 2, ?OSTEOGENESIS IMPERFECTA, TYPE XII, CHONDRODYSPLASIA, BLOMSTRAND TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, 3-M SYNDROME 3, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MELNICK-NEEDLES SYNDROME, BENT BONE DYSPLASIA SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SADDAN, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, COFFIN-LOWRY SYNDROME

ACTA1, SOX9, ACTB, LRP5, CBL, NME1, SP7, CENPE, PTH1R, HDAC6, FLNA, BUB1B, FGFR1, INSR, NOTCH1, CCDC8, FGFR2, IGF1R, APC, CDC6, HRAS, GNRH1, PTEN, FGFR3, CREBBP, RPS6KA3, CHRM3, CUL7

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, SMITH-MCCORT DYSPLASIA 2, ROBINOW SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, 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, NEMALINE MYOPATHY 5, AMISH TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ANDROGEN INSENSITIVITY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, BASAL CELL NEVUS SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 46,XX SEX REVERSAL, TYPE 2, SHPRINTZEN-GOLDBERG SYNDROME, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, WEAVER SYNDROME, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, CONGENITAL DIAPHRAGMATIC HERNIA, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, OTOPALATODIGITAL SYNDROME, TYPE I, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, WAARDENBURG SYNDROME, TYPE 1, FRONTOMETAPHYSEAL DYSPLASIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, LOEYS-DIETZ SYNDROME 3, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL

ACTA1, SOX9, AR, TGFB2, MYH11, SOX2, SUFU, AXIN2, MAP2K2, SMAD4, DVL3, GNAS, IKBKG, FLNA, NOTCH1, EDA, PTH1R, TGFB3, LRP5, GJA1, TUBB, FGFR1, LEP, PROK2, INSR, KDM1A, PTPN11, AKT2, PCNT, KRAS, HNRNPK, VDR, ESR1, WNT5A, UBA1, IGF1R, MET, RAB33B, MED12, CRYAB, RAPSN, DVL1, TNNT1, TGFBR1, DES, HDAC6, GLI3, HRAS, LRP2, BMPER, IFT80, RPS19, EMD, ACTB, NF1, SMAD3, PAX3, CREBBP, TNFRSF1A, CHRM3, COL2A1, GLIS3, RUNX2, EZH2, SF3B4, PTEN, SKI, EDARADD

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, 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, DONNAI-BARROW 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, 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, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, ?HYPERPROLACTINEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, COFFIN-LOWRY SYNDROME, 3MC SYNDROME 1, 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, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 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, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, OCCIPITAL HORN SYNDROME, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MICROPHTHALMIA, SYNDROMIC 12, LIMB-MAMMARY SYNDROME, INCONTINENTIA PIGMENTI, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, JOHANSON-BLIZZARD SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, LOEYS-DIETZ SYNDROME 5, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XIII, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, CORNELIA DE LANGE SYNDROME 1, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, STICKLER SYNDROME, TYPE I, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE XV, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, LEOPARD SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

EZH2, WNT5A, COL1A1, NAA10, ACTB, GNAS, IKBKG, COL1A2, TBX3, UBA1, CDC6, GJA1, KDM6A, KMT2A, STK11, NOG, FMR1, WT1, BAG3, PROK2, KISS1, DNM2, DES, EFEMP2, BMPER, JAG1, ERCC2, WNT4, CREBBP, COL2A1, SF3B4, PTEN, RARB, ACTA1, WNT7A, GRIP1, IL1RN, KRAS, FOXL2, LZTR1, NME1, SP7, NOTCH1, FGFR1, LEP, CBL, MET, CRYAB, GLIS3, GPX4, TGFBR1, FGFR3, ROR2, NOTCH3, NKX3-2, GSC, CHD7, RPS6KA3, TP63, BRAF, PTCH1, ALPL, BMP1, SOX9, TGFB2, SMAD4, DVL3, CTNS, UBR1, LMX1B, TGFB3, LRP5, TNFRSF1A, SOX2, VDR, IGF1R, MED12, HNRNPK, IHH, GLI3, POLD1, EFNB1, NF1, XRCC4, MUSK, MAF, GNRH1, CHRM3, EIF4A3, TFAP2A, RUNX2, NRAS, AR, FLNA, MYH11, BIN1, MASP1, HCCS, PAX3, PTPN11, GATA6, DVL1, EIF2AK3, PRLR, ORC1, INSR, PCNT, FGFR2, UBE2A, WNT1, RET, TBX6, HRAS, LRP2, ATP7A, ADA, SMAD3, ESR1, TGFBR2, KIF1BP, SOX10, SKI

BASAL CELL NEVUS SYNDROME, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, 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, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, ?HYPERPROLACTINEMIA, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, SADDAN, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, 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, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, 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, HAY-WELLS SYNDROME, LEGIUS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, LOEYS-DIETZ SYNDROME 5, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, 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, SMED STRUDWICK TYPE, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, STICKLER SYNDROME, TYPE I, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, 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, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, LOEYS-DIETZ SYNDROME 4, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, LRP4, COL1A1, ACTB, IGBP1, IKBKG, COL1A2, CDC6, DDR2, ZEB2, KMT2A, STK11, LIPE, WT1, NF1, ERCC6, BAG3, PROK2, DNM2, DOK7, DES, SERPINH1, EFEMP2, MBTPS2, ERCC2, TGFBR2, CREBBP, COL2A1, CUL7, MYH2, ACTA1, SHOC2, DVL3, GRIP1, IL1RN, KRAS, MAP2K2, AR, SP7, TRPV4, GNAS, NOTCH1, FGFR1, MMP13, LEP, CBL, HS6ST1, MET, SPRED1, ICK, TGFBR1, TGFB3, ROR2, ZBTB16, GSC, RPS6KA3, TP63, SEC23B, PTCH1, GPC3, GJA1, TGFB2, SMAD4, EXT1, HDAC6, FLNA, GDF2, TUBB, TNFRSF1A, RIPK4, SOX2, VDR, WNT5A, IGF1R, SH3PXD2B, EZH2, GLI3, KISS1R, TTN, RPS19, EFNB1, PTEN, FGFR3, MUSK, SOX10, RUNX2, NRAS, DLG3, MYH11, BIN1, HNRNPK, PAX3, NR5A1, JAG1, CENPE, GATA6, DVL1, EIF2AK3, PRLR, TBCE, INSR, PTPN11, SOS1, BRAF, LRP5, CRYAB, RET, TBX6, APC, HRAS, LRP2, IFT80, GNRH1, SMAD3, ATR, HSPG2, ESR1, FLNB

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 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, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, 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, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ADULT SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, LUJAN-FRYNS SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, LIMB-MAMMARY SYNDROME, KEUTEL SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, SERKAL SYNDROME, SCLEROSTEOSIS 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CRANIOECTODERMAL DYSPLASIA 1, WEAVER 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, ALAGILLE SYNDROME, SED CONGENITA, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XIII, WAARDENBURG SYNDROME, TYPE 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), 3MC SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PALLISTER-HALL SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1

ACTA1, PTCH1, SOX9, AR, TGFB2, FGFR3, SOX2, AXIN2, WNT4, COL1A1, ICK, PAX3, PTEN, CREBBP, DVL3, ROR2, GPC3, WNT5A, CLASP1, JAG1, NOTCH1, LMX1B, KRAS, DVL1, CBS, EYA1, GDF2, ESR1, PEX5, GRIP1, NOG, LEP, SOST, FLNA, WNT7A, CDC6, IHH, BMP1, SOX10, VDR, FGFR2, STK11, IGF1R, MMP13, MASP1, MED12, IFT172, LRP2, CRYAB, LRP5, TGFBR1, ALPL, ERCC6, DNM2, RET, GLI3, NME1, APC, SOS1, HRAS, MGP, COL1A2, GJA1, BMPER, IFT80, NOTCH3, EFNB1, PORCN, MUSK, SMAD3, SMAD4, SEMA3A, HSPG2, GNRH1, TP63, TGFBR2, IFT122, COL2A1, PTPN11, RUNX2, EZH2, SF3B4, NF1, SKI

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, 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, SECKEL SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, 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, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, ?TETRA-AMELIA 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, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, 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, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, AYME-GRIPP SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46,XX SEX REVERSAL, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, STICKLER SYNDROME, TYPE I, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, LEOPARD SYNDROME 1

FSHB, PLOD3, WNT5A, COL1A1, ACTB, SEMA3E, COL3A1, COL5A1, UBA1, SOX10, NOG, FEZF1, CLASP1, BMPER, TGFBR2, CREBBP, COL2A1, MUSK, ACTA1, WNT7A, GRIP1, KRAS, MAP2K2, TFAP2A, ANOS1, NOTCH1, FGFR1, MET, COL1A2, CBL, HS6ST1, MMP13, AGRN, TGFBR1, ROR2, GSC, BIN1, RPS6KA3, VCP, PAM16, PTCH1, RET, ALPL, UBE2A, SOX9, TGFB2, SMAD4, EXT1, FLNA, USP9X, FBN2, SOX2, IGF1R, FBN1, GLI3, EFNB1, NF1, FGFR3, MAF, RUNX2, NRAS, DLG3, MYH11, SEMA3A, PAX3, NR5A1, WNT3, PTPN11, GATA6, DVL1, INSR, COL5A2, SOS1, FGFR2, WNT1, GPC3, PTEN, HRAS, LRP2, IFT80, SMAD3, ATR, HSPG2, ESR1, ISPD, PTPRF

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, BASAL CELL NEVUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PALLISTER-HALL SYNDROME, FRASER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OTOPALATODIGITAL SYNDROME, TYPE II, NEUROFIBROMATOSIS-NOONAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ANDROGEN INSENSITIVITY, THANATOPHORIC DYSPLASIA, TYPE I, OLIGODONTIA-COLORECTAL CANCER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, 3MC SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADULT SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ESTROGEN RESISTANCE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, LIMB-MAMMARY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, ACROCAPITOFEMORAL DYSPLASIA, 46,XX SEX REVERSAL, TYPE 2, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, FRONTOMETAPHYSEAL DYSPLASIA, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, KEUTEL SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, ?OTOFACIOCERVICAL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SADDAN, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL

ACTA1, PTCH1, SOX9, RET, TGFB2, FGFR3, SOX2, AXIN2, WNT7A, COL1A1, SMAD4, NOTCH1, AR, WNT5A, PTPN11, CREBBP, GRIP1, EYA1, GDF2, ESR1, NOG, GNRH1, FLNA, SEMA3A, SOX10, VDR, FGFR2, IHH, MMP13, MASP1, ICK, DNM2, GLI3, HRAS, GJA1, BMPER, MGP, NF1, SMAD3, PAX3, NME1, HSPG2, EFNB1, TP63, TGFBR2, RUNX2, SF3B4, MUSK

LOEYS-DIETZ SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ROBINOW SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, 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, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, DONNAI-BARROW SYNDROME, PREMATURE OVARIAN FAILURE 7, SMED STRUDWICK TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CONGENITAL DIAPHRAGMATIC HERNIA, SPONDYLOPERIPHERAL DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, OTOPALATODIGITAL SYNDROME, TYPE I, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LOEYS-DIETZ SYNDROME 2, SED CONGENITA, LEOPARD SYNDROME 1, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, OSTEOGENESIS IMPERFECTA, TYPE III, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

ACTA1, CCBE1, SOX9, TGFB2, WNT5A, COL1A1, PAX3, NR5A1, PTPN11, HDAC6, FLNA, FGFR1, LEP, NOTCH1, SOS1, DVL1, MET, ITGA3, CRYAB, TGFBR1, HRAS, LRP2, BMPER, GSC, SMAD3, ESR1, COL2A1, TGFBR2

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, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, 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, HYPOPHOSPHATASIA, CHILDHOOD, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, MYOTUBULAR MYOPATHY, X-LINKED, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, 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, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, ?HYPERPROLACTINEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, 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, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SHPRINTZEN-GOLDBERG 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, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, FRANK-TER HAAR SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SCLEROSTEOSIS 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JOHANSON-BLIZZARD SYNDROME, HAY-WELLS SYNDROME, 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, 3-M SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, NOONAN SYNDROME 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, 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, NOONAN SYNDROME 10, ALAGILLE SYNDROME, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SPONDYLOPERIPHERAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, SMED STRUDWICK TYPE, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, STICKLER SYNDROME, TYPE I, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MARFAN LIPODYSTROPHY SYNDROME, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, EZH2, TNFRSF1A, WNT5A, KISS1, MAP2K2, ACTB, GNAS, IKBKG, COL3A1, COL11A2, CDC6, LRP4, ZEB2, GDF6, STK11, NOG, LIPE, WT1, NF1, ERCC6, BAG3, PROK2, COL1A1, DNM2, DOK7, DES, SERPINH1, BMPER, JAG1, MBTPS2, TGFBR2, CREBBP, COL2A1, CUL7, SF3B4, MYH2, ACTA1, WNT7A, DVL3, PLS3, IL1RN, RSPO1, AXIN2, FOXL2, LZTR1, AR, TRPV4, IGBP1, NOTCH1, FGFR1, MET, LEP, COL1A2, AKT2, CBL, HS6ST1, MMP13, AGRN, ICK, CRYAB, TGFBR1, TGFB3, GRIP1, KRAS, GSC, RPS6KA3, TP63, KMT2A, SEC23B, GDF2, PTCH1, GPC3, ALPL, DDR2, SHOC2, TGFB2, SMAD4, EXT1, UBR1, ARL2BP, HDAC6, FLNA, GJA1, SOX9, TUBB, ROR2, TBX5, TNFRSF11B, RIPK4, SOX2, INPPL1, VDR, IGF1R, FBN1, SH3PXD2B, HCCS, IHH, GLI3, KISS1R, RPS19, EFNB1, PTEN, FGFR3, MUSK, MAF, CHRM3, SOX10, TFAP2A, RUNX2, NRAS, DLG3, MYH11, BIN1, HNRNPK, PAX3, NR5A1, CENPE, GATA6, DVL1, EIF2AK3, ESR1, TBCE, INSR, PTPN11, SOS1, FGFR2, BRAF, LRP5, EDARADD, RPL11, WNT1, CLASP1, RET, APC, HRAS, LRP2, WNT4, IFT80, GNRH1, SERPINF2, SMAD3, HSPG2, PRLR, FLNB, SKI

LOEYS-DIETZ SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NESTOR-GUILLERMO PROGERIA SYNDROME, ROBINOW SYNDROME, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MEIER-GORLIN SYNDROME 5, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPOPHOSPHATASIA, CHILDHOOD, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ANDROGEN INSENSITIVITY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LOEYS-DIETZ SYNDROME 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, 46,XX SEX REVERSAL, TYPE 2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, LEGIUS SYNDROME, MYHRE SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, NEUROFIBROMATOSIS-NOONAN SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, CARDIOFACIOCUTANEOUS SYNDROME, COLE DISEASE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, LEOPARD SYNDROME 3, SCLEROSTEOSIS 2, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MULTIPLE SYNOSTOSES SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CORNELIA DE LANGE SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HOLT-ORAM SYNDROME, LEOPARD SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, CRANIOFRONTONASAL DYSPLASIA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ?OSTEOGENESIS IMPERFECTA, TYPE XII, AU-KLINE SYNDROME, NOONAN SYNDROME 4

ACTA1, NRAS, BANF1, EZH2, LRP5, BIN1, CBL, HNRNPK, SMAD4, PTEN, AR, UBE2A, SP7, IGBP1, WNT5A, IKBKG, PTPN11, PTH1R, HDAC6, DVL1, ENPP1, GJA1, SOX9, NOG, INSR, ROR2, TBX5, MET, CDC6, KMT2A, SOX10, SOS1, VDR, FKTN, STK11, IGF1R, MMP13, SPRED1, LRP2, ICK, TGFBR1, ALPL, LIPE, CLASP1, RET, APC, KISS1R, HRAS, EFEMP2, WNT1, KRAS, EFNB1, GSC, SMAD3, PAX3, CREBBP, GNRH1, ESR1, TGFBR2, BRAF, RUNX2, NF1, LRP4

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, AYME-GRIPP SYNDROME, OSTEOGLOPHONIC DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 46,XX SEX REVERSAL, TYPE 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, MYHRE SYNDROME, LOEYS-DIETZ SYNDROME 3, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MICROPHTHALMIA, SYNDROMIC 12, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, PALLISTER-HALL SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, HOLT-ORAM SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ACROCAPITOFEMORAL DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

ACTA1, PTCH1, SOX9, IHH, SOX2, AXIN2, SMAD4, HDAC6, FGFR1, TRPS1, TBX5, KRAS, VDR, NKX3-2, TGFBR1, GLI3, HRAS, ZBTB16, SMAD3, CREBBP, MAF, RUNX2, RARB

LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOPHOSPHATASIA, CHILDHOOD, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MARFAN LIPODYSTROPHY SYNDROME, 46,XX SEX REVERSAL, TYPE 2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MYOTUBULAR MYOPATHY, X-LINKED, WAARDENBURG SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, PREMATURE OVARIAN FAILURE 7, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ADULT SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LIMB-MAMMARY SYNDROME, 46XY SEX REVERSAL 3, HYPOPHOSPHATASIA, INFANTILE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, OTOPALATODIGITAL SYNDROME, TYPE I, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CONGENITAL DIAPHRAGMATIC HERNIA, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LOEYS-DIETZ SYNDROME 2, LOEYS-DIETZ SYNDROME 3, LEOPARD SYNDROME 1, ROBINOW SYNDROME, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, HAY-WELLS SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

ACTA1, CCBE1, SOX9, DNM2, TGFB2, SEMA3A, COL1A1, SMAD4, NR5A1, PTPN11, HDAC6, FLNA, GDF2, ESR1, LEP, NOTCH1, SOS1, WNT5A, DVL1, MET, ITGA3, CRYAB, ALPL, FBN1, CLASP1, TGFBR1, PTEN, HRAS, LRP2, BMPER, ZBTB16, NF1, SMAD3, PAX3, TP63, TGFBR2, COL2A1, GSC

LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, ROBINOW SYNDROME, WEAVER SYNDROME, RENPENNING SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SECKEL SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, 46,XX SEX REVERSAL, TYPE 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PREMATURE OVARIAN FAILURE 7, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, SPONDYLOPERIPHERAL DYSPLASIA, STICKLER SYNDROME, TYPE I, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LOEYS-DIETZ SYNDROME 2, 46XY SEX REVERSAL 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, LOEYS-DIETZ SYNDROME 3, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LEOPARD SYNDROME 1

ACTA1, SOX9, EZH2, KISS1, SMAD4, CREBBP, DVL3, NR5A1, PTPN11, PDHX, PQBP1, CHRM3, COL5A1, LEP, TRPS1, COL1A2, DVL1, NME1, RET, ACTB, ZBTB16, SF3B4, TGFBR2, SMAD3, ATR, ESR1, COL2A1, RUNX2, PTPRF, PTEN

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, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, 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, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LOEYS-DIETZ SYNDROME 2, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, 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, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, DENYS-DRASH SYNDROME, MARTSOLF SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, VAN DEN ENDE-GUPTA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, CORNELIA DE LANGE SYNDROME 1, ?SECKEL SYNDROME 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, LATERAL MENINGOCELE SYNDROME, SMED STRUDWICK TYPE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MARFAN LIPODYSTROPHY SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

ACTA1, SHOC2, DNM2, DLG3, MYH11, BIN1, FGFR2, HNRNPK, RAB3GAP2, PTEN, AR, UBE2A, SP7, TRPV4, COL1A1, WNT5A, IKBKG, FLNA, NOTCH1, PTH1R, HDAC6, LRP5, GJA1, TUBB, FGFR1, CHRM3, INSR, KDM1A, TNFRSF1A, AKT2, WNT4, KISS1R, KRAS, SOX10, EIF4A3, NIPBL, BRAF, IGF1R, MMP13, FMR1, WT1, RUNX2, FBN1, TGFBR1, GLIS3, CBL, EZH2, DES, GLI3, APC, SOS1, HRAS, SERPINF2, LRP2, BMPER, ZBTB16, NOTCH3, ACTB, MUSK, SMAD3, CREBBP, HSPG2, ESR1, COL1A2, COL2A1, PTPN11, PROK2, SCARF2, CENPJ, TGFBR2

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, SHWACHMAN-DIAMOND SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, 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, BENT BONE DYSPLASIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MARFAN LIPODYSTROPHY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PERIODIC FEVER, FAMILIAL, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MYOTUBULAR MYOPATHY, X-LINKED, THANATOPHORIC DYSPLASIA, TYPE I, RESTRICTIVE DERMOPATHY, LETHAL, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CONGENITAL DIAPHRAGMATIC HERNIA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, WAARDENBURG SYNDROME, TYPE 1, PYCNODYSOSTOSIS, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MALOUF SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, VAN DEN ENDE-GUPTA SYNDROME, MEIER-GORLIN SYNDROME 5, ?SECKEL SYNDROME 4, RUBINSTEIN-TAYBI SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LUJAN-FRYNS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SADDAN, CORNELIA DE LANGE SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, PTCH1, LMNA, NME1, FGFR3, BIN1, CBL, HNRNPK, SMAD4, CTSK, COL1A1, DNM2, NOTCH1, HDAC6, BUB1B, TAF6, KDM1A, TNFRSF1A, CDC6, KRAS, VDR, FGFR2, VCP, MED12, TNNT1, FBN1, CLASP1, TGFBR1, APC, SOS1, HRAS, EZH2, SCARF2, GNRH1, ACTB, SBDS, XRCC4, PAX3, CREBBP, RPS6KA3, ESR1, GPX4, CENPJ, PTEN, SKI

?PRUNE BELLY SYNDROME, 3-M SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, 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, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, THANATOPHORIC DYSPLASIA, TYPE I, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, CHONDRODYSPLASIA, BLOMSTRAND TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, 3-M SYNDROME 3, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, PYCNODYSOSTOSIS, MELNICK-NEEDLES SYNDROME, DENYS-DRASH SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, OTOPALATODIGITAL SYNDROME, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MEIER-GORLIN SYNDROME 5, SERKAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SADDAN, OSTEOGENESIS IMPERFECTA, TYPE III, ROBINOW SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, COFFIN-LOWRY SYNDROME

ACTA1, SOX9, ACTB, LRP5, WNT5A, CBL, COL1A1, CREBBP, CTSK, SP7, CENPE, RPS6KA3, PTH1R, HDAC6, FLNA, BUB1B, FGFR1, INSR, NOTCH1, CCDC8, EIF4A3, FGFR2, IGF1R, WT1, APC, CDC6, HRAS, GNRH1, WNT4, FGFR3, NME1, HSPG2, CHRM3, CUL7, PTEN

LOEYS-DIETZ SYNDROME 5, THANATOPHORIC DYSPLASIA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, 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, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, THANATOPHORIC DYSPLASIA, TYPE I, DONNAI-BARROW SYNDROME, LATERAL MENINGOCELE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OSTEOGLOPHONIC DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, JOUBERT SYNDROME 21, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MEIER-GORLIN SYNDROME 5, ROBINOW SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SADDAN, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

VDR, LRP2, TGFB3, IGF1R, TGFB2, GNRH1, FGFR3, PTEN, FGFR1, CSPP1, FGFR2, HSPG2, NOTCH3, ESR1, NOTCH1, DVL3, SP7, HDAC6, CDC6, APC, AR

CHONDRODYSPLASIA, BLOMSTRAND TYPE, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, OSTEOGLOPHONIC DYSPLASIA, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, DENYS-DRASH SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SERKAL SYNDROME, ROBINOW SYNDROME

PTH1R, IGF1R, LRP5, FGFR1, PTEN, EIF4A3, WT1, SOX9, COL1A1, INSR, WNT4, FLNA, SP7, WNT5A, NOTCH1

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, 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, INCONTINENTIA PIGMENTI, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 46,XX SEX REVERSAL, TYPE 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, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, ALAGILLE SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MICROPHTHALMIA, SYNDROMIC 12, SERKAL SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 2, ULNAR-MAMMARY SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, KABUKI SYNDROME 2, SED CONGENITA, CORNELIA DE LANGE SYNDROME 1, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

PTCH1, SOX9, TGFBR1, LRP5, BIN1, NRAS, HNRNPK, SMAD4, AR, IKBKG, NOTCH1, GATA6, KRAS, TBX3, FGFR1, TBX5, SOS1, SOX2, KDM6A, VDR, KMT2A, AKT2, MET, IHH, SKI, GLI3, HRAS, WNT4, JAG1, MUSK, SMAD3, PAX3, CREBBP, ESR1, TGFBR2, SOX10, COL2A1, RUNX2, PTEN, RARB

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, BASAL CELL NEVUS SYNDROME, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, 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, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, 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, 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, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, CATSHL SYNDROME, METATROPIC DYSPLASIA, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, SECKEL SYNDROME 9, NEMALINE MYOPATHY 5, AMISH TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, PYCNODYSOSTOSIS, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, OROFACIODIGITAL SYNDROME IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, LUJAN-FRYNS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, YUNIS-VARON SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LIMB-MAMMARY SYNDROME, KOOLEN-DE VRIES SYNDROME, KEUTEL SYNDROME, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, 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, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, ?SECKEL SYNDROME 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?PRUNE BELLY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, 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, RITSCHER-SCHINZEL SYNDROME 1, 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, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 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, TARP SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MOWAT-WILSON SYNDROME, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, DNM2, WNT5A, TRAIP, COL1A1, ACTB, LBR, GNAS, IKBKG, TBX3, LEP, VPS37A, PIGT, UBA1, KISS1R, KMT2A, KDM6A, IGHMBP2, STK11, NOG, TCTN3, FMR1, NF1, CLASP1, BAG3, PROK2, MARS2, EFEMP2, JAG1, ERCC2, TGFBR2, CREBBP, COL2A1, SF3B4, MUSK, FIG4, ACTA1, SOX9, GRIP1, TRPV4, KRAS, NALCN, NME1, SP7, GDF6, NOTCH1, BUB1B, FGFR1, EDA, MMP13, TAF6, AKT2, CBL, MET, RBM10, TNNT1, TGFBR1, TNFRSF1A, ZBTB16, GSC, RPS6KA3, TP63, PTCH1, BANF1, ALPL, GJA1, TGFB2, SMAD4, CTSK, CBS, PTH1R, HDAC6, FLNA, BICD2, KIF1B, ROR2, TNFRSF11B, SOX2, KANSL1, VDR, IGF1R, MED12, EZH2, GLI3, CDC6, PTEN, FGFR3, MAF, GNRH1, CHRM3, ZEB2, RUNX2, CENPJ, AIP, AR, DLG3, SEMA3A, HNRNPK, PAX3, NR5A1, CENPE, GATA6, DVL1, ESR1, INSR, PTPN11, KIAA0196, SOS1, FGFR2, LRP5, EDARADD, PDHX, CRYAB, MGP, CTNS, APC, KIF1BP, HRAS, LRP2, ADA, SMAD3, HSPG2, C19orf12, FLNB, SOX10, SKI

MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, BASAL CELL NEVUS SYNDROME, 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, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, FRASER SYNDROME, PYCNODYSOSTOSIS, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, COFFIN-LOWRY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, 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, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, DENYS-DRASH SYNDROME, MARTSOLF SYNDROME, MEIER-GORLIN SYNDROME 4, SCLEROSTEOSIS 2, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), 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, SERKAL SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, 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, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, WARBURG MICRO SYNDROME 3, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ?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, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, FRAGILE X SYNDROME, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, SMITH-MCCORT DYSPLASIA 2, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYHRE SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1

WNT5A, COL1A1, ICK, ACTB, GNAS, IKBKG, TAF6, PCYT1A, CDC6, LRP4, EIF4A3, KMT2A, STK11, NOG, FMR1, ITGA3, CLASP1, PROK2, DNM2, DES, CDT1, RIN2, FGD1, SMAD4, CREBBP, COL2A1, NF1, ACTA1, SOX9, DVL3, GRIP1, KRAS, AXIN2, CBL, MAP2K2, NME1, SP7, NOTCH1, FGFR1, LEP, AKT2, MEGF10, HS6ST1, MET, AGRN, PTH1R, TNNT1, WNT1, TGFBR1, ROR2, ZBTB16, TNNT2, GSC, RAB18, CHD7, RPS6KA3, TP63, VCP, BRAF, ARHGAP31, PTCH1, GJA1, SUFU, RAB3GAP2, CTSK, CTNS, TPM2, HDAC6, FLNA, RAB33B, RAPSN, KIF1B, SOX2, INPPL1, IGF1R, SH3PXD2B, EZH2, GLI3, KISS1R, EFNB1, MYH2, MUSK, CRYAB, CHRM3, KDM6A, RUNX2, CUL4B, AR, DLG3, MYH11, BIN1, PAX3, NR5A1, PTPN11, DVL1, EIF2AK3, ESR1, INSR, CENPE, SOS1, FGFR2, LRP5, WT1, GPX4, GPC3, TBX6, APC, PTEN, HRAS, LRP2, WNT4, IFT80, ADA, SMAD3, ATR, HSPG2, NEB, TGFBR2, KIF1BP, PTPRF

LOEYS-DIETZ SYNDROME 1, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, BASAL CELL NEVUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SED CONGENITA, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HOLT-ORAM SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, WAARDENBURG SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, PREMATURE OVARIAN FAILURE 7, BRANCHIOOCULOFACIAL SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, WEAVER SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BRUCK SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADULT SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, STICKLER SYNDROME, TYPE I, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XV, LIMB-MAMMARY SYNDROME, 46XY SEX REVERSAL 3, MICROPHTHALMIA, SYNDROMIC 12, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HAMAMY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MULTIPLE SYNOSTOSES SYNDROME 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 2, ?OTOFACIOCERVICAL SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, KABUKI SYNDROME 2, COUSIN SYNDROME, FRONTONASAL DYSPLASIA 1, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?CRANIOECTODERMAL DYSPLASIA 4, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LOEYS-DIETZ SYNDROME 4, CARPENTER SYNDROME 2, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, CORNELIA DE LANGE SYNDROME 1, SERKAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

PTCH1, RSPO1, TGFBR1, TGFB2, TBX15, KMT2A, KDM6A, FGFR2, FOXL2, SMAD4, AR, SP7, NR5A1, UBA1, GNAS, NOTCH1, LRP5, WNT5A, COL11A1, GJA1, SOX9, ESR1, HS6ST1, IRX5, IFT172, TBX5, SOX2, SOX10, EIF4A3, NIPBL, IHH, AKT2, WDR19, NOG, MEGF8, WNT1, PLOD2, COL1A1, EZH2, GSC, GLI3, ROR2, TFAP2A, WNT4, ZBTB16, EYA1, SMAD3, PAX3, CREBBP, HSPG2, TP63, RARB, COL2A1, RUNX2, ALX3, TGFBR2, SKI

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, VAN MALDERGEM SYNDROME 2, 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, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SMED STRUDWICK TYPE, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, STICKLER SYNDROME, TYPE I, ESTROGEN RESISTANCE, MICROPHTHALMIA, SYNDROMIC 12, PALLISTER-HALL SYNDROME, 46,XX SEX REVERSAL, TYPE 2, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, LOEYS-DIETZ SYNDROME 2, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, RUBINSTEIN-TAYBI SYNDROME, VAN MALDERGEM SYNDROME 1, LOEYS-DIETZ SYNDROME 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, ROBINOW SYNDROME

SOX9, FLNA, WNT5A, DCHS1, COL1A1, FAT4, IFT172, HDAC6, TGFB2, COL3A1, SOX10, FGFR2, TGFB3, GLI3, STRA6, ADA, TGFBR2, SMAD3, CREBBP, ESR1, COL2A1, RARB

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BENT BONE DYSPLASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, FOCAL DERMAL HYPOPLASIA, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, DENYS-DRASH SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, CONGENITAL DIAPHRAGMATIC HERNIA, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, WAARDENBURG SYNDROME, TYPE 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, MEIER-GORLIN SYNDROME 5, ROBINOW SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ACROCAPITOFEMORAL DYSPLASIA, SADDAN, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, SERKAL SYNDROME

SOX9, EZH2, SMAD3, RSPO1, WNT7A, FOXL2, PAX3, NOTCH1, EDA, TUBB, COL1A2, CDC6, WNT5A, SOX10, FGFR2, IHH, DVL1, MET, WT1, COL1A1, TGFBR1, PTEN, ROR2, MUSK, FGFR3, ESR1, AMER1, RUNX2, PORCN, WNT4

LOEYS-DIETZ SYNDROME 1, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, BASAL CELL NEVUS SYNDROME, CORNELIA DE LANGE SYNDROME 1, WEAVER SYNDROME, 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, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, INCONTINENTIA PIGMENTI, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, OTOPALATODIGITAL SYNDROME, TYPE I, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BRANCHIOOCULOFACIAL SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, LUJAN-FRYNS SYNDROME, MELNICK-NEEDLES SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, ?CRANIOECTODERMAL DYSPLASIA 4, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, SPONDYLOPERIPHERAL DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MICROPHTHALMIA, SYNDROMIC 12, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, 46,XX SEX REVERSAL, TYPE 2, DIAMOND-BLACKFAN ANEMIA 7, CHILD SYNDROME, LOEYS-DIETZ SYNDROME 2, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, FRAGILE X SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, ROBINOW SYNDROME

PTCH1, SOX9, EZH2, TGFB2, KMT2A, CBL, TFAP2A, WNT5A, IKBKG, FLNA, IFT172, GATA6, HDAC6, WDR19, HS6ST1, NOTCH1, AKT2, NSDHL, SOX2, SOX10, FGFR2, VCP, MED12, RPL11, FMR1, TGFBR1, GLI3, HRAS, STRA6, ZBTB16, ADA, TGFBR2, SMAD3, CREBBP, HSPG2, ESR1, COL2A1, RUNX2, PTEN, RARB

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, SHPRINTZEN-GOLDBERG SYNDROME, WEAVER SYNDROME, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ANDROGEN INSENSITIVITY, OSTEOGENESIS IMPERFECTA, TYPE II, OTOPALATODIGITAL SYNDROME, TYPE I, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, DONNAI-BARROW SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, OCCIPITAL HORN SYNDROME, ESTROGEN RESISTANCE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, WAARDENBURG SYNDROME, TYPE 1, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, LOEYS-DIETZ SYNDROME 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, LEOPARD SYNDROME 1

RET, TGFB2, COL1A1, SMAD4, AR, PTPN11, GATA6, HDAC6, FLNA, ATP7A, LEP, SOX10, TANGO2, ERCC6, PPP1R15B, CRYAB, EZH2, KIF1BP, LRP2, ADA, PTEN, SMAD3, PAX3, CREBBP, HSPG2, ESR1, GPX4, RUNX2, PTPRF

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, SHPRINTZEN-GOLDBERG SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BENT BONE DYSPLASIA SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, THANATOPHORIC DYSPLASIA, TYPE I, MOWAT-WILSON SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, DENYS-DRASH SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ACROCAPITOFEMORAL DYSPLASIA, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, PALLISTER-HALL SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, WAARDENBURG SYNDROME, TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, MEIER-GORLIN SYNDROME 5, ROBINOW SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, FOCAL DERMAL HYPOPLASIA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SADDAN, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, SERKAL SYNDROME

SOX9, GPC3, ALPL, FGFR3, RSPO1, AXIN2, WNT7A, FOXL2, PAX3, DVL3, NOTCH1, HDAC6, IGF1R, EDA, TUBB, COL1A2, CDC6, WNT5A, SOX10, FGFR2, IHH, DVL1, MET, WT1, COL1A1, TGFBR1, GLI3, PTEN, ROR2, EZH2, MUSK, SMAD3, SMAD4, ESR1, AMER1, ZEB2, RUNX2, PORCN, WNT4, SKI

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, KABUKI SYNDROME 2, ROBINOW SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XV, SPONDYLOCOSTAL DYSOSTOSIS 5, CONGENITAL DIAPHRAGMATIC HERNIA, MELNICK-NEEDLES SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MYHRE SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ULNAR-MAMMARY SYNDROME, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES

PTCH1, FGFR2, DVL1, TBX3, GSC, PAX3, WNT1, SMAD4, ROR2, FLNA, WNT7A, TBX6, WNT5A, KDM6A, GATA6

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOPOROSIS-PSEUDOGLIOMA 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, ENDOCRINE-CEREBROOSTEODYSPLASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, METATROPIC DYSPLASIA, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, LOEYS-DIETZ SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, MOWAT-WILSON SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LIMB-MAMMARY SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, LOEYS-DIETZ SYNDROME 5, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, SMED STRUDWICK 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, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, BRACHYOLMIA TYPE 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LEOPARD SYNDROME 1

ACTA1, TGFBR1, LRP5, TNFRSF1A, TRPV4, SOX2, MAP2K2, SMAD4, PTEN, DVL3, GPC3, NR5A1, IKBKG, GNAS, NOTCH1, INSR, GATA6, TGFB3, DLG3, GJA1, TUBB, FGFR1, ESR1, GRIP1, LEP, ROR2, FLNA, IL1RN, KRAS, RIPK4, WNT5A, ZEB2, SOS1, CBL, STK11, AR, IGF1R, MET, WT1, NF1, ERCC6, SH3PXD2B, PROK2, ICK, DNM2, DES, GLI3, KISS1R, HRAS, COL1A2, EZH2, RPS19, IFT80, ACTB, MUSK, SMAD3, PAX3, CREBBP, HSPG2, TP63, TGFBR2, COL2A1, PTPN11, RUNX2, GSC

LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, BASAL CELL NEVUS SYNDROME, ?PRUNE BELLY SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ROBINOW SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, WEAVER SYNDROME, PALLISTER-HALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LOEYS-DIETZ SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, INCONTINENTIA PIGMENTI, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ANDROGEN INSENSITIVITY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PERIODIC FEVER, FAMILIAL, 46,XX SEX REVERSAL, TYPE 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, DONNAI-BARROW SYNDROME, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, NOONAN SYNDROME 10, NEUROFIBROMATOSIS-NOONAN SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MICROPHTHALMIA, SYNDROMIC 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, ACROCAPITOFEMORAL DYSPLASIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, OTOPALATODIGITAL SYNDROME, TYPE I, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LOEYS-DIETZ SYNDROME 5, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, LOEYS-DIETZ SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VIII, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, DIAPHANOSPONDYLODYSOSTOSIS, LUJAN-FRYNS SYNDROME, LOEYS-DIETZ SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, LEOPARD SYNDROME 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, PTCH1, SOX9, TGFBR1, TGFB2, WNT5A, TNFRSF1A, MYH11, SOX2, LZTR1, AXIN2, GSC, SUFU, SMAD4, PTEN, DVL3, UBE2A, GNAS, UBA1, IKBKG, FLNA, NOTCH1, COL1A1, RAPSN, CHRM3, HDAC6, LRP5, TBX3, LIPE, KRAS, ESR1, EDA, ZBTB16, LEP, PTPN11, AKT2, TUBB, SERPINH1, CBL, BIN1, VDR, GJA1, IHH, AR, IGF1R, MMP13, MED12, NF1, GLIS3, DVL1, DNM2, TGFB3, GLI3, MET, PCNT, HRAS, CTNS, LRP2, BMPER, IFT80, RPS19, EMD, ACTB, MUSK, SMAD3, PAX3, CREBBP, HSPG2, P3H1, NAA10, PROK2, RUNX2, EZH2, TGFBR2, EDARADD

SCLEROSTEOSIS 1, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, WEAVER SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, 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-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 46,XX SEX REVERSAL, TYPE 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DENYS-DRASH SYNDROME, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, SCLEROSTEOSIS 2, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CONGENITAL DIAPHRAGMATIC HERNIA, PALLISTER-HALL SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MULTIPLE SYNOSTOSES SYNDROME 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ULNAR-MAMMARY SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, KABUKI SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, LOEYS-DIETZ SYNDROME 3, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SERKAL SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, SOX9, EZH2, LRP5, SOX2, AXIN2, CBL, SMAD4, NOTCH1, DVL3, WNT5A, GLI3, SOST, IGF1R, TBX3, MET, ROR2, AGRN, SOX10, KMT2A, DVL1, NOG, MED12, WT1, GPC3, GSC, TBX6, APC, PTEN, HRAS, WNT4, IFT80, MUSK, SMAD3, PAX3, CREBBP, RPS6KA3, ESR1, AMER1, KDM6A, COL2A1, MYH2, LRP4

LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, SECKEL SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, DONNAI-BARROW SYNDROME, CRANIOFRONTONASAL DYSPLASIA, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MEIER-GORLIN SYNDROME 5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SERKAL SYNDROME, AU-KLINE SYNDROME

ACTA1, TGFBR1, GRIP1, KRAS, HNRNPK, SMAD4, PTEN, DVL3, FLNA, DVL1, ESR1, AKT2, CDC6, IGF1R, AGRN, ICK, LRP5, SH3PXD2B, CLASP1, DNM2, GLI3, APC, SOS1, HRAS, LRP2, WNT4, EFNB1, MUSK, SMAD3, ATR, HSPG2, CHRM3, FGD1

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 46,XX SEX REVERSAL, TYPE 2, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PREMATURE OVARIAN FAILURE 7, RUBINSTEIN-TAYBI SYNDROME, 46XY SEX REVERSAL 3, SERKAL SYNDROME

SOX9, SEMA3A, WT1, GATA6, CREBBP, NR5A1, WNT4

BASAL CELL NEVUS SYNDROME, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, 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, 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, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, ?HYPERPROLACTINEMIA, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, COFFIN-LOWRY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, BOHRING-OPITZ SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, MOWAT-WILSON SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, 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, JOHANSON-BLIZZARD SYNDROME, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, ALAGILLE SYNDROME, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MEIER-GORLIN SYNDROME 4, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, LOEYS-DIETZ SYNDROME 5, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, DIAMOND-BLACKFAN ANEMIA 1, WOLCOTT-RALLISON SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, LOEYS-DIETZ SYNDROME 4, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, EZH2, LRP4, COL1A1, ACTB, IGBP1, IKBKG, COL1A2, CDC6, DDR2, ZEB2, KMT2A, STK11, WT1, NF1, ERCC6, BAG3, PROK2, DNM2, DOK7, DES, CDT1, SERPINH1, JAG1, MBTPS2, TGFBR2, CREBBP, COL2A1, CUL7, MYH2, ACTA1, SHOC2, DVL3, GRIP1, IL1RN, SOX2, AXIN2, MAP2K2, LZTR1, AR, TRPV4, GNAS, NOTCH1, FGFR1, MMP13, LEP, CBL, HS6ST1, MET, ICK, TGFBR1, TGFB3, ROR2, GSC, RPS6KA3, TP63, VCP, SEC23B, PTCH1, GPC3, GJA1, TGFB2, SMAD4, EXT1, UBR1, HDAC6, LRP5, GDF2, RAPSN, TUBB, TNFRSF1A, FLNA, RIPK4, KRAS, WNT5A, IGF1R, SH3PXD2B, IHH, GLI3, KISS1R, RPS19, PTEN, FGFR3, MUSK, RUNX2, NRAS, DLG3, MYH11, HNRNPK, PAX3, ASXL1, NR5A1, PTPN11, GATA6, DVL1, EIF2AK3, PRLR, TBCE, INSR, CENPE, SOS1, BRAF, CRYAB, RET, HRAS, LRP2, IFT80, GNRH1, SMAD3, HSPG2, ESR1, FLNB

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, 3-M SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, CRANIOFRONTONASAL DYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, INCONTINENTIA PIGMENTI, BENT BONE DYSPLASIA SYNDROME, LARSEN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, MARFAN LIPODYSTROPHY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, 46,XX SEX REVERSAL, TYPE 2, ATELOSTEOGENESIS, TYPE I, ?DYSTONIA, JUVENILE-ONSET, OSTEOGENESIS IMPERFECTA, TYPE II, DONNAI-BARROW SYNDROME, 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, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FRANK-TER HAAR SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DENYS-DRASH SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, METATROPIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SCLEROSTEOSIS 2, SERKAL SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, GAPO SYNDROME, PALLISTER-HALL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MULTIPLE SYNOSTOSES SYNDROME 1, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS IH, LOEYS-DIETZ SYNDROME 2, KENNY-CAFFEY SYNDROME, TYPE 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, LOEYS-DIETZ SYNDROME 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SADDAN, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, LOEYS-DIETZ SYNDROME 4, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3

SOX9, CUL4B, EZH2, TGFB2, FGFR3, SOX2, WNT7A, COL1A1, SMAD4, CREBBP, ACTB, TRPV4, WNT3, WNT5A, IKBKG, FLNA, NOTCH1, GATA6, LRP5, GJA1, PLOD3, ESR1, TBCE, NOG, PTPN11, UBA1, IHH, KRAS, SOX10, VDR, FGFR2, FGFR1, STK11, DVL1, MMP13, WT1, RUNX2, FBN1, TGFBR1, SH3PXD2B, RET, GLI3, IDUA, MET, CUL7, GRIP1, LRP2, WNT4, EFNB1, MUSK, SMAD3, PAX3, BIN1, ANTXR1, TGFBR2, COL2A1, FLNB, PTEN, LRP4

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, ESTROGEN RESISTANCE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3

SOX9, GDF2, SMAD3, ESR1, RUNX2, NOTCH1

SHPRINTZEN-GOLDBERG SYNDROME, KABUKI SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ESTROGEN RESISTANCE, ULNAR-MAMMARY SYNDROME, ROBINOW SYNDROME, MYHRE SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BENT BONE DYSPLASIA SYNDROME, ?OTOFACIOCERVICAL SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, LOEYS-DIETZ SYNDROME 3, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MULTIPLE SYNOSTOSES SYNDROME 1, ?TETRA-AMELIA SYNDROME

FGFR2, GATA6, TBX3, NOG, EYA1, SMAD3, SMAD4, TBX6, ESR1, SKI, GPC3, GSC, WNT3, WNT5A, SOX2, KDM6A

BASAL CELL NEVUS SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OTOPALATODIGITAL SYNDROME, TYPE II, THANATOPHORIC DYSPLASIA, TYPE I, 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, MULTIPLE ENDOCRINE NEOPLASIA IIB, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, METATROPIC DYSPLASIA, LOEYS-DIETZ SYNDROME 2, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), RUBINSTEIN-TAYBI SYNDROME, SADDAN, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, MARTSOLF SYNDROME, ACHONDROGENESIS, TYPE IA, MALOUF SYNDROME, DIAMOND-BLACKFAN ANEMIA 10, LEOPARD SYNDROME 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, OSTEOGLOPHONIC DYSPLASIA, NESTOR-GUILLERMO PROGERIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, 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, 46XY SEX REVERSAL 3, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MEIER-GORLIN SYNDROME 4, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, COLE-CARPENTER SYNDROME 2, LOEYS-DIETZ SYNDROME 5, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), VAN MALDERGEM SYNDROME 2, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, RENPENNING SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RESTRICTIVE DERMOPATHY, LETHAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ULNAR-MAMMARY SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, LOEYS-DIETZ SYNDROME 4, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, WARBURG MICRO SYNDROME 3, AU-KLINE SYNDROME

ACTA1, PTCH1, LMNA, BANF1, RET, TGFB2, MYH11, SOX2, SEC24D, MAP2K2, PEX5, SMAD4, CREBBP, DVL3, UBE2A, TRPV4, IGBP1, KRAS, CDT1, CENPE, FLNA, PTH1R, TGFB3, RPS26, TBX3, GJA1, TRPS1, FGFR1, SNRPB, MET, IGF1R, HRAS, AKT2, LTBP2, CDC6, FBLN5, HNRNPK, AIP, PIGT, RUNX2, STK11, RAB18, DVL1, CBL, TANGO2, RPL11, NME1, IHH, TGFBR1, GNAS, NKX3-2, DNM2, HDAC6, TBX6, POLD1, PTPN11, RPS28, PEX3, RPS19, PEX1, TGFBR2, ACTB, SMAD3, RAB3GAP2, NR5A1, HSPG2, FAT4, ESR1, VCP, SEC23B, PQBP1, PAM16, PTEN, TRIP11, FGFR3

PAGET DISEASE OF BONE 5, JUVENILE-ONSET, NEUROFIBROMATOSIS-NOONAN SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ESTROGEN RESISTANCE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, LEOPARD SYNDROME 1, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MARFAN LIPODYSTROPHY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

FSHB, LRP5, IGF1R, LEP, GNRH1, GJA1, NF1, FBN1, ESR1, PTPN11, SP7, TNFRSF11B, RUNX2, HRAS

LOEYS-DIETZ SYNDROME 1, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, BASAL CELL NEVUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, OSTEOGLOPHONIC DYSPLASIA, FIBROCHONDROGENESIS 2, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SHPRINTZEN-GOLDBERG SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, BENT BONE DYSPLASIA SYNDROME, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BRANCHIOOCULOFACIAL SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, KBG SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, ?CRANIOECTODERMAL DYSPLASIA 4, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADULT SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, STICKLER SYNDROME, TYPE I, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XV, LIMB-MAMMARY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, PALLISTER-HALL SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HAMAMY SYNDROME, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MULTIPLE SYNOSTOSES SYNDROME 1, MUCOPOLYSACCHARIDOSIS IH, LOEYS-DIETZ SYNDROME 2, ?OTOFACIOCERVICAL SYNDROME, KABUKI SYNDROME 2, COUSIN SYNDROME, FRONTONASAL DYSPLASIA 1, CORNELIA DE LANGE SYNDROME 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SERKAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LOEYS-DIETZ SYNDROME 4, CARPENTER SYNDROME 2, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

PTCH1, SOX9, IHH, TGFB2, SMAD3, SOX2, FGFR2, COL1A1, SMAD4, SP7, GNAS, IKBKG, NOTCH1, HSPG2, GSC, COL11A1, COL11A2, EIF4A3, FGFR1, IFT172, KMT2A, KDM6A, IRX5, HS6ST1, NOG, MEGF8, NKX3-2, WNT1, TGFBR1, SKI, GLI3, IDUA, TFAP2A, WNT4, WDR19, EYA1, TBX15, PAX3, CREBBP, ANKRD11, TP63, SOX10, COL2A1, RUNX2, ALX3, TGFBR2, IFT140

?PRUNE BELLY SYNDROME, ROBINOW 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, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, GLYCOGEN STORAGE DISEASE II, GREENBERG SKELETAL DYSPLASIA, 46,XX SEX REVERSAL, TYPE 2, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, LUJAN-FRYNS SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, YUNIS-VARON SYNDROME, OCCIPITAL HORN SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, OTOPALATODIGITAL SYNDROME, TYPE I, ?CHARGE SYNDROME, CHARGE SYNDROME, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), ULNAR-MAMMARY SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, LOEYS-DIETZ SYNDROME 3, CORNELIA DE LANGE SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

ACTA1, SOX9, AR, DLG3, KMT2A, HNRNPK, SMAD4, DVL3, LBR, GNAS, CTNS, PTPN11, FLNA, CHD7, TBX3, BUB1B, GRIP1, ESR1, TBCE, RAPSN, INSR, AKT2, SOS1, GJA1, IGF1R, MED12, ICK, NAGLU, EZH2, GLI3, PTEN, HRAS, LRP2, ATP7A, MUSK, SMAD3, CREBBP, CHRM3, GAA, PEX5, FIG4

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, BASAL CELL NEVUS SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, 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, ?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, NEUROFIBROMATOSIS-NOONAN SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, 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, PYCNODYSOSTOSIS, LOEYS-DIETZ SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VIII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LUJAN-FRYNS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, OPSISMODYSPLASIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, WEAVER SYNDROME, ?PRUNE BELLY SYNDROME, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, 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, NOONAN SYNDROME 10, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XIII, WAARDENBURG SYNDROME, TYPE 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, LOEYS-DIETZ SYNDROME 5, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ?MICROPHTHALMIA, SYNDROMIC 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, LEOPARD SYNDROME 1

EZH2, WNT5A, COL1A1, NAA10, ACTB, GNAS, IKBKG, TBX3, UBA1, GJA1, LIPE, ITGA3, CLASP1, PROK2, DNM2, PCNT, BMPER, EMD, FGD1, KIAA0586, CREBBP, P3H1, SF3B4, MUSK, ACTA1, SOX9, DVL3, TGFB2, KRAS, AXIN2, LZTR1, AR, NOTCH1, EDA, MMP13, LEP, AKT2, CBL, MET, TNNT1, GLIS3, TGFBR1, BMP1, TNFRSF1A, ZBTB16, GSC, TGFB3, PTCH1, UBE2A, SUFU, SERPINH1, SMAD4, CTSK, PTH1R, HDAC6, LRP5, KIF1B, RAPSN, TUBB, SOX2, INPPL1, VDR, IGF1R, MED12, IHH, GLI3, RPS19, NF1, CHRM3, RUNX2, FLNA, MYH11, BIN1, MASP1, PAX3, PTPN11, DVL1, SOS1, EDARADD, CTNS, PTEN, HRAS, LRP2, IFT80, SMAD3, HSPG2, ESR1, TGFBR2, PTPRF

OSTEOGENESIS IMPERFECTA, TYPE III, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, 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, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, SCHNECKENBECKEN DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XV, CONGENITAL DIAPHRAGMATIC HERNIA, WAARDENBURG SYNDROME, TYPE 1, MULTIPLE SYNOSTOSES SYNDROME 1, EXOSTOSES, MULTIPLE, TYPE 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, RUBINSTEIN-TAYBI SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME

SOX9, NKX3-2, IHH, NOG, ACTB, SLC35D1, PAX3, CREBBP, HSPG2, GNRH1, SMAD4, WNT1, EXT1, NOTCH1, SP7, TAPT1, COL1A1, WNT5A, RUNX2, HRAS

?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 2, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, KABUKI SYNDROME 2, COUSIN SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, BRANCHIOOCULOFACIAL SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MYHRE SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BENT BONE DYSPLASIA SYNDROME, HAMAMY SYNDROME, LOEYS-DIETZ SYNDROME 3, ?CRANIOECTODERMAL DYSPLASIA 4, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT

FGFR2, IRX5, WDR19, TBX15, TGFBR2, KDM6A, SMAD3, TFAP2A, SOX2, SMAD4, IFT172, TGFBR1, GNAS, RUNX2, SOX10, EIF4A3

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MULTIPLE FIBROADENOMAS OF THE BREAST, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, 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, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, WEAVER SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, 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, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?HYPERPROLACTINEMIA, LOEYS-DIETZ SYNDROME 2, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SHPRINTZEN-GOLDBERG SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROFIBROMATOSIS-NOONAN SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 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, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PEUTZ-JEGHERS SYNDROME, LUJAN-FRYNS SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, YUNIS-VARON SYNDROME, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LIMB-MAMMARY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, HAY-WELLS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, AROMATASE EXCESS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SHWACHMAN-DIAMOND SYNDROME, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, ?OTOFACIOCERVICAL SYNDROME 2, VITAMIN D-DEPENDENT RICKETS, TYPE I, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MARFAN LIPODYSTROPHY SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, 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, WARBURG MICRO SYNDROME 3, ALAGILLE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CHONDRODYSPLASIA, BLOMSTRAND TYPE, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, CHILD SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ACROCAPITOFEMORAL DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, 3MC SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

FSHB, EZH2, KMT2A, LMNA, COL1A1, CPT2, ACOX1, ACTB, LBR, GNAS, IKBKG, COL1A2, EBP, PTDSS1, PCYT1A, CDC6, PAX1, KISS1R, STK11, LIPE, WT1, NF1, ERCC6, BAG3, KISS1, DNM2, DES, MBTPS2, JAG1, WNT4, CREBBP, MYH2, CYP2R1, ACTA1, SOX9, TRPV4, KRAS, AR, GPC3, PIGT, NOTCH1, FGFR1, LEP, AKT2, AGRN, CBL, HS6ST1, MET, ADAMTS10, HSD17B3, PRLR, GPX4, TGFBR1, TNFRSF1A, ZBTB16, RAB18, TP63, FIG4, DPAGT1, GLB1, GJA1, SMAD4, SBDS, DVL3, CBS, CYP27B1, PTH1R, HDAC6, LRP5, TUBB, SOX2, INPPL1, VDR, IGF1R, MASP1, MED12, FBN1, HNRNPK, IHH, GLI3, NSDHL, ARSB, PEX5, IL1RN, MUSK, CHRM3, MTM1, RUNX2, PTEN, GLE1, PIGN, FLNA, MYH11, BIN1, LHB, HCCS, PAX3, HSD17B4, CYP19A1, PIGL, NR5A1, PTPN11, GATA6, VCP, NEB, CYP21A2, SOS1, FGFR2, RPL11, CRYAB, PLOD2, CLASP1, RET, KIF1BP, HRAS, LRP2, STRA6, GNRH1, SMAD3, PPP1R15B, HSPG2, ESR1, TGFBR2, CYP17A1, ISPD, HPGD

?PRUNE BELLY SYNDROME, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, AORTIC ANEURYSM, FAMILIAL THORACIC 9, MANNOSIDOSIS, ALPHA-, TYPES I AND II, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, GLYCOGEN STORAGE DISEASE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, NOONAN SYNDROME 10, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OPSISMODYSPLASIA, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, PETERS-PLUS SYNDROME, FUCOSIDOSIS, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LOEYS-DIETZ SYNDROME 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1