CHEST

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MULTIPLE FIBROADENOMAS OF THE BREAST, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, THANATOPHORIC DYSPLASIA, TYPE II, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, BASAL CELL NEVUS SYNDROME, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 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, 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, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, 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, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, SADDAN, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, 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, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, LIMB-MAMMARY SYNDROME, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, INCONTINENTIA PIGMENTI, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, COFFIN-LOWRY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, ?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, COWDEN SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE XIII, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, ?SECKEL SYNDROME 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, DESBUQUOIS DYSPLASIA 1, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, ESCOBAR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?HYPERPROLACTINEMIA, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

FSHB, EZH2, WNT5A, TRAIP, COL1A1, CHRNG, ACTB, SEMA3E, IKBKG, COL3A1, EBP, TBX3, KDM1A, UBA1, CDC6, GJA1, SOX10, ADGRG6, NOG, FMR1, WT1, NF1, NPR2, SUFU, DNM2, ALG2, LTBP4, EFEMP2, TGFBR2, TNFRSF11B, CREBBP, COL2A1, SF3B4, PTEN, RARB, ACTA1, WNT7A, DVL3, GRIP1, FGFR3, KRAS, MAP2K2, NME1, SP7, GNAS, NOTCH1, GNRHR, PIGT, FGFR1, CHRM3, EDA, MET, LEP, COL1A2, AKT2, PTCH2, LIFR, CANT1, CBL, MMP13, ABCC9, TNNT1, CRYAB, TGFBR1, TNFRSF1A, ZBTB16, GSC, RAB18, PROKR2, RPS6KA3, TP63, KMT2A, SEC23B, PTCH1, TAPT1, ALPL, BMP1, SOX9, TGFB2, SMAD4, CTSK, LMX1B, PTH1R, FLNA, GDF2, CHRNA1, KIF1B, SNRPB, TUBB, ROR2, IL1RN, DDR2, FBLN5, VDR, IGF1R, FBN1, IHH, GLI3, KISS1R, EFNB1, PEX5, TRPV4, MUSK, MAF, GNRH1, ANTXR1, RUNX2, CENPJ, EYA1, AIP, NRAS, AR, DLG3, MYH11, SEMA3A, MASP1, HNRNPK, PAX3, NR5A1, PTPN11, DVL1, TACR3, PRLR, INSR, SOS1, FGFR2, BRAF, LRP5, EDARADD, RPL11, WNT1, RET, FLNB, HRAS, LRP2, EIF2AK3, IFT80, ADA, SERPINF2, SMAD3, BAG3, HSPG2, ESR1, KIF1BP, PTPRF, HPGD

LOEYS-DIETZ SYNDROME 1, WEAVER SYNDROME, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, MOWAT-WILSON SYNDROME, PREMATURE OVARIAN FAILURE 7, BRANCHIOOCULOFACIAL SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, LOEYS-DIETZ SYNDROME 3, MYHRE 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, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, LOEYS-DIETZ SYNDROME 2, COUSIN SYNDROME, CORNELIA DE LANGE SYNDROME 1, HOLT-ORAM SYNDROME, RUBINSTEIN-TAYBI SYNDROME, LUJAN-FRYNS SYNDROME, ROBINOW SYNDROME

AR, TBX15, SOX2, TFAP2A, DVL3, NR5A1, NOTCH1, GDF2, PQBP1, TBX5, KMT2A, ZEB2, MED12, WT1, EZH2, TBX6, TGFBR2, SMAD3, SMAD4, CREBBP, ESR1, SOX10, RUNX2

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, AYME-GRIPP SYNDROME, WEAVER SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, 46,XX SEX REVERSAL, TYPE 2, ?OSTEOGENESIS IMPERFECTA, TYPE XII, PREMATURE OVARIAN FAILURE 7, BRANCHIOOCULOFACIAL SYNDROME, CRANIOFRONTONASAL DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, NOONAN SYNDROME 10, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DENYS-DRASH SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, KLIPPEL-FEIL SYNDROME 2, LIMB-MAMMARY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LOEYS-DIETZ SYNDROME 2, LOEYS-DIETZ SYNDROME 3, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

SOX9, DVL3, SMAD3, SOX2, SUFU, TFAP2A, AR, SP7, NR5A1, NOTCH1, MAF, PTF1A, TBX3, ESR1, WNT5A, ZEB2, VDR, LZTR1, WT1, GLIS3, HNRNPK, IHH, EZH2, EFNB1, GSC, MEOX1, PAX3, CREBBP, RPS6KA3, TP63, TGFBR2, SOX10, PTEN

BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 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, 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, PRIMROSE 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, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LOEYS-DIETZ SYNDROME 2, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, FRASER SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 1, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, ?OTOFACIOCERVICAL SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NOONAN SYNDROME 4, SHPRINTZEN-GOLDBERG SYNDROME, BOHRING-OPITZ 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, INCONTINENTIA PIGMENTI, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, 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, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FRONTONASAL DYSPLASIA 1, MICROPHTHALMIA, SYNDROMIC 12, LIMB-MAMMARY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, KOOLEN-DE VRIES SYNDROME, MALOUF SYNDROME, COUSIN SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SOTOS SYNDROME 2, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, AROMATASE EXCESS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, LOEYS-DIETZ SYNDROME 5, ?OTOFACIOCERVICAL SYNDROME 2, NESTOR-GUILLERMO PROGERIA SYNDROME, 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, SED CONGENITA, SPONDYLOPERIPHERAL DYSPLASIA, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ABLEPHARON-MACROSTOMIA SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, BARBER-SAY SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, ANDROGEN INSENSITIVITY, MARSHALL-SMITH SYNDROME, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, STICKLER SYNDROME, TYPE I, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, KLIPPEL-FEIL SYNDROME 2, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

LMNA, EZH2, WNT5A, COL1A1, ICK, ACTB, GNAS, IKBKG, NKX3-2, TBX3, LEP, SOX2, KDM1A, CDC6, PAX1, KDM6A, KMT2A, STK11, ZBTB20, NOG, FMR1, WT1, ERCC6, BAG3, EFEMP2, BMPER, ERCC2, TGFBR2, MEOX1, CREBBP, COL2A1, SF3B4, PTEN, RARB, ACTA1, SOX9, GRIP1, FGFR3, RSPO1, RBM8A, FOXL2, LZTR1, NME1, SP7, NOTCH1, PTF1A, BUB1B, TAF6, AKT2, CBL, MMP13, TNNT1, GLIS3, GPX4, TGFB3, ROR2, ZBTB16, TNNT2, GSC, RPS6KA3, TP63, VCP, PTCH1, BANF1, ALPL, GJA1, SUFU, SMAD4, DVL3, LMX1B, HDAC6, CHD7, GDF2, PQBP1, TUBB, TBX5, FBN2, KRAS, KANSL1, VDR, IGF1R, ALX3, TWIST2, IHH, GLI3, MYH2, TBX15, TFAP2A, MAF, ZEB2, RUNX2, EYA1, AIP, AR, FLNA, MYH11, BIN1, HNRNPK, PAX3, ASXL1, CYP19A1, NR5A1, PTPN11, GATA6, DVL1, TRPS1, SOS1, MED12, FGFR2, RPL11, WNT1, RET, TBX6, APC, HRAS, WNT4, GNRH1, SMAD3, NFIX, HSPG2, ESR1, SOX10, SKI

RICKETS, VITAMIN D-RESISTANT, TYPE IIA, BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, 46,XX SEX REVERSAL, TYPE 2, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LOEYS-DIETZ SYNDROME 3, ESTROGEN RESISTANCE, ?OTOFACIOCERVICAL SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, 46XY SEX REVERSAL 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, INCONTINENTIA PIGMENTI, PRIMROSE SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?CHARGE SYNDROME, CHARGE SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ANDROGEN INSENSITIVITY, MYHRE SYNDROME

VDR, SOX9, ZBTB20, CHD7, NKX3-2, EYA1, SMAD4, SMAD3, TFAP2A, SUFU, ESR1, GLIS3, CREBBP, AR, NR5A1, IKBKG, SOX2

LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ROBINOW SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, SHPRINTZEN-GOLDBERG SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, LEPRECHAUNISM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, NEMALINE MYOPATHY 5, AMISH TYPE, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, 46,XX SEX REVERSAL, TYPE 2, ?DYSTONIA, JUVENILE-ONSET, DONNAI-BARROW SYNDROME, PREMATURE OVARIAN FAILURE 7, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, FRANK-TER HAAR SYNDROME, ADULT SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, METATROPIC DYSPLASIA, LOEYS-DIETZ SYNDROME 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, LIMB-MAMMARY SYNDROME, OPSISMODYSPLASIA, 46XY SEX REVERSAL 3, ANDERSEN SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, ULNAR-MAMMARY SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, LOEYS-DIETZ SYNDROME 3, CORNELIA DE LANGE SYNDROME 1, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BRACHYOLMIA TYPE 3, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

ACTA1, SOX9, TGFBR1, CHD7, TRPV4, KMT2A, CBL, HNRNPK, SMAD4, INPPL1, CREBBP, DVL3, NR5A1, PCYT1A, PIGT, PTPN11, HDAC6, DOK7, TBX3, GJA1, TUBB, ESR1, RAPSN, INSR, FLNA, SOS1, BIN1, SOX10, FHL1, MTM1, LRP5, TNNT1, SH3PXD2B, GLIS3, DNM2, DES, KCNJ2, PTEN, HRAS, LRP2, GNRH1, ACTB, MUSK, SMAD3, NME1, HSPG2, TP63, AMER1, TGFBR2, COL2A1, KIF1BP, NF1

SHPRINTZEN-GOLDBERG SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WEAVER SYNDROME, RENPENNING SYNDROME, FRASER SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MEIER-GORLIN SYNDROME 5, INCONTINENTIA PIGMENTI, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OVARIAN DYSGENESIS 3, ANDROGEN INSENSITIVITY, BOHRING-OPITZ SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, PREMATURE OVARIAN FAILURE 7, BRANCHIOOCULOFACIAL SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, NOONAN SYNDROME 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CONGENITAL DIAPHRAGMATIC HERNIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, 46XY SEX REVERSAL 3, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, WAARDENBURG SYNDROME, TYPE 1, ACHONDROGENESIS, TYPE IA, LOEYS-DIETZ SYNDROME 3, CORNELIA DE LANGE SYNDROME 1, HOLT-ORAM SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, FRAGILE X SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, AU-KLINE SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, AIP, SOX9, EZH2, GRIP1, SOX2, HNRNPK, SMAD4, AR, NR5A1, UBA1, IKBKG, NOTCH1, ARL2BP, HDAC6, GDF2, PQBP1, TUBB, RAPSN, TAF6, ASXL1, KDM1A, TBX5, CDC6, MED12, SOX10, VDR, KMT2A, AKT2, LZTR1, FMR1, WT1, TRIP11, PSMC3IP, GLI3, HRAS, GJA1, ACTB, PTEN, SMAD3, PAX3, CREBBP, ESR1, TFAP2A, RUNX2, SF3B4, SKI

LYSYL HYDROXYLASE 3 DEFICIENCY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, BASAL CELL NEVUS SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, ROBINOW SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MEIER-GORLIN SYNDROME 5, ?CHARGE SYNDROME, CHARGE SYNDROME, INCONTINENTIA PIGMENTI, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OVARIAN DYSGENESIS 3, ANDROGEN INSENSITIVITY, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 46,XX SEX REVERSAL, TYPE 2, TARP SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, WEAVER SYNDROME, PREMATURE OVARIAN FAILURE 7, BRANCHIOOCULOFACIAL SYNDROME, CRANIOFRONTONASAL DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?DYSTONIA, JUVENILE-ONSET, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, NOONAN SYNDROME 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BOHRING-OPITZ SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CONGENITAL DIAPHRAGMATIC HERNIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, 46XY SEX REVERSAL 3, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, FRASER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, KABUKI SYNDROME 2, ACHONDROGENESIS, TYPE IA, SCALP-EAR-NIPPLE SYNDROME, COUSIN SYNDROME, CORNELIA DE LANGE SYNDROME 1, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, HOLT-ORAM SYNDROME, SERKAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, DIAPHANOSPONDYLODYSOSTOSIS, LUJAN-FRYNS SYNDROME, FRAGILE X SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, AIP, SOX9, PSMC3IP, CHD7, WNT5A, TBX15, SOX2, AXIN2, SHOC2, SUFU, SMAD4, AR, NR5A1, UBA1, IKBKG, GLI3, NOTCH1, LMX1B, ARL2BP, HDAC6, GRIP1, TBX3, GDF2, KRAS, PLOD3, TUBB, RAPSN, TAF6, ASXL1, KDM1A, ROR2, TBX5, CDC6, LZTR1, KMT2A, KDM6A, VDR, GJA1, AKT2, VCP, RBM10, MED12, WT1, TRIP11, PAX3, GLIS3, HNRNPK, FMR1, GSC, TBX6, HRAS, KCTD1, BMPER, ZBTB16, EFNB1, ACTB, PTEN, SMAD3, TFAP2A, CREBBP, MAF, ESR1, SOX10, PQBP1, RUNX2, EZH2, SF3B4, WNT4, SKI

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, 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, 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, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CATSHL SYNDROME, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?HYPERPROLACTINEMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, SECKEL SYNDROME 7, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, PEUTZ-JEGHERS SYNDROME, LUJAN-FRYNS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, OPSISMODYSPLASIA, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, NESTOR-GUILLERMO PROGERIA SYNDROME, ROBINOW SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, LEGIUS SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SECKEL SYNDROME 5, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, MEIER-GORLIN SYNDROME 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, FRAGILE X SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, INCONTINENTIA PIGMENTI, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, TARP SYNDROME, OVARIAN DYSGENESIS 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, COLE DISEASE, MEIER-GORLIN SYNDROME 1, NOONAN SYNDROME 10, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COWDEN SYNDROME 7, MENTAL RETARDATION, X-LINKED 90, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, WARBURG MICRO SYNDROME 3, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, SECKEL SYNDROME 1, LOEYS-DIETZ SYNDROME 4, SIALURIA, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, MARS2, PLOD3, WNT5A, ORC4, COL1A1, NAA10, ACOX1, NEK1, ACTB, LBR, SEMA3E, IKBKG, COL1A2, ENPP1, LEP, PIGT, TRAPPC2, KDM1A, UBA1, CDC6, GJA1, EIF4A3, IGHMBP2, STK11, PLS3, LIPE, IBA57, ERCC6, NPR2, DNM2, CDT1, PCNT, ERCC2, TGFBR2, CREBBP, GNE, DYNC2H1, SF3B4, PTEN, ACTA1, WNT7A, DVL3, GRIP1, XRCC4, KRAS, RBM8A, MEGF10, MAP2K2, LZTR1, NME1, SP7, TRPV4, GNAS, NOTCH1, BUB1B, FGFR1, MMP13, TAF6, AKT2, CEP152, CBL, MET, RPL11, SPRED1, RBM10, ICK, NRAS, FMR1, CRYAB, TGFBR1, DHODH, ROR2, ABCD4, ZBTB16, TNNT2, GSC, RAB18, BIN1, RPS6KA3, TP63, VCP, SEC23B, TMEM165, RAB33B, MCM8, DIS3L2, BANF1, ALPL, DVL1, DDR2, PEX1, TGFB2, SMAD4, RPS28, CBS, INSR, LMX1B, TPM2, HDAC6, CHD7, NIN, SOX9, BICD2, KIF1B, SNRPB, RAPSN, TUBB, TNFRSF1A, FLNA, RIPK4, SOX2, INPPL1, VDR, PCYT1A, IGF1R, MED12, MYH2, ABCC6, EZH2, POLD1, KISS1R, GATA6, TTN, RPS19, EFNB1, NF1, FGFR3, MUSK, CHRM3, RBM28, RUNX2, AIP, GLE1, CUL4B, AR, DLG3, SMAD3, SEMA3A, MCM9, HNRNPK, ALDH18A1, HSD17B4, CENPE, PDHX, NAGLU, EIF2AK3, PRLR, ORC1, IGBP1, PTPN11, UPF3B, SOS1, KIF7, FGFR2, BRAF, WT1, UBE2A, ABCC9, MAPRE2, OFD1, RAB40AL, PLOD2, CLASP1, RET, APC, HRAS, LRP2, ATP7A, GNRH1, MYH11, PPP1R15B, ATR, ESR1, HPGD, FLNB, PTPRF, PEX5, SKI

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, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, 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, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ATELOSTEOGENESIS, TYPE I, MYOTUBULAR MYOPATHY, X-LINKED, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, 3-M SYNDROME 1, 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, MUCOLIPIDOSIS III GAMMA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, CATSHL SYNDROME, MEIER-GORLIN SYNDROME 1, KAUFMAN OCULOCEREBROFACIAL SYNDROME, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, SECKEL SYNDROME 9, FRASER SYNDROME, MUCOLIPIDOSIS II ALPHA/BETA, ?HYPERPROLACTINEMIA, LOEYS-DIETZ SYNDROME 5, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, PETERS-PLUS SYNDROME, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, RUBINSTEIN-TAYBI SYNDROME, SADDAN, JOHANSON-BLIZZARD SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, NESTOR-GUILLERMO PROGERIA SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, RAINE SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 10, AORTIC ANEURYSM, FAMILIAL THORACIC 9, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, PEUTZ-JEGHERS SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, LUJAN-FRYNS SYNDROME, SPONDYLOOCULAR SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, YUNIS-VARON SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, MICROPHTHALMIA, SYNDROMIC 12, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ?TETRA-AMELIA SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), MUCOLIPIDOSIS III ALPHA/BETA, MENTAL RETARDATION, X-LINKED 90, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LYSYL HYDROXYLASE 3 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, NAIL-PATELLA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, WARBURG MICRO SYNDROME 3, SECKEL SYNDROME 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MICROPHTHALMIA, SYNDROMIC 1, 46XY SEX REVERSAL 3, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ?CHARGE SYNDROME, CHARGE SYNDROME, DESBUQUOIS DYSPLASIA 2, MEIER-GORLIN SYNDROME 2, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, COFFIN-LOWRY SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, SED CONGENITA, CORNELIA DE LANGE SYNDROME 1, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, FRAGILE X SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, SECKEL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, STICKLER SYNDROME, TYPE I, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADULT SYNDROME, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COWDEN SYNDROME 7, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, OLIGODONTIA-COLORECTAL CANCER SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, HAMAMY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EXOSTOSES, MULTIPLE, TYPE 2, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, SIALURIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, GNPTAB, TNFRSF1A, PLOD3, IRX5, TRAIP, ORC4, COL1A1, CPT2, NEK1, ACTB, LBR, PIGT, IKBKG, CDT1, COL3A1, ALPL, B3GLCT, MGAT2, COL11A2, B3GALT6, PTDSS1, KDM1A, UBA1, TSR2, CDC6, WNT5A, SOX10, KMT2A, STK11, LIPE, IBA57, CLASP1, BAG3, SUFU, DNM2, DES, ALG2, SERPINH1, LTBP4, JAG1, EMD, SMAD4, NAA10, CREBBP, GNE, COL2A1, CUL7, SF3B4, PTEN, RARB, ACTA1, WNT7A, DVL3, GRIP1, FGFR3, RSPO1, KDM6A, AXIN2, FKTN, MAP2K2, LZTR1, NME1, DPAGT1, IGBP1, NOTCH1, BUB1B, FGFR1, TAF6, ALG11, AKT2, KRAS, AGRN, CEP152, CBL, HS6ST1, MET, SPRED1, ICK, NRAS, WNT3, OFD1, TGFBR1, TGFB3, ROR2, TFAP2A, ZBTB16, TNNT2, GSC, RAB18, RPS6KA3, TP63, VCP, FIG4, SEC23B, UBE3B, PTCH1, FAM20C, BANF1, RET, GLB1, GNPTG, UBE2A, CHST3, TGFB2, XYLT2, EXT1, CUL4B, CHST14, UBR1, LMX1B, HDAC6, CHD7, LEP, GJA1, SOX9, BICD2, KIF1B, TUBB, HRAS, FLNA, DDR2, RIPK4, BIN1, INPPL1, VDR, EXT2, SMS, PCYT1A, IGF1R, MED12, FBN1, HNRNPK, EZH2, POLD1, TTN, NOTCH3, RPS19, EFNB1, NF1, XRCC4, MUSK, CRYAB, EIF4A3, HGSNAT, RBM28, GPX4, RUNX2, GDF2, AIP, GLE1, GPC3, AR, DLG3, SMAD3, SEMA3A, HCCS, ALDH18A1, HSD17B4, TRMT10A, B3GAT3, XYLT1, NR5A1, CENPE, PDHX, DVL1, ATP7A, ESR1, ORC1, INSR, PTPN11, SOS1, FMR1, FGFR2, BRAF, LRP5, PIGN, RPL11, ZMPSTE24, B4GALT7, APC, ISPD, MFAP5, LRP2, EIF2AK3, GNRH1, PTPRF, HES7, MYH11, NPR2, ATR, HSPG2, PRLR, TGFBR2, FLNB, PORCN, PEX5, SKI

LOEYS-DIETZ SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SHPRINTZEN-GOLDBERG SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, THANATOPHORIC DYSPLASIA, TYPE I, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CATSHL SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ADULT SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COWDEN SYNDROME 7, LIMB-MAMMARY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MARFAN LIPODYSTROPHY SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HAY-WELLS SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SADDAN, LEOPARD SYNDROME 1, COFFIN-LOWRY SYNDROME

TGFBR1, DDR2, MAP2K2, PTPN11, FGFR1, NEK1, INSR, HRAS, AKT2, FGFR2, IGF1R, MET, FBN1, RET, POLD1, ROR2, ZBTB16, MUSK, FGFR3, RPS6KA3, TP63, SEC23B, SKI

OPSISMODYSPLASIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MULTIPLE ENDOCRINE NEOPLASIA IIB, ?DYSTONIA, JUVENILE-ONSET, COLE DISEASE, LEPRECHAUNISM, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, ACTB, IGF1R, ENPP1, MUSK, INSR, DOK7, LEP, PTPN11, RET, INPPL1

BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, STICKLER SYNDROME, TYPE I, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, FRASER SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ?OTOFACIOCERVICAL SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SHPRINTZEN-GOLDBERG 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, MOWAT-WILSON SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, LUJAN-FRYNS 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, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MICROPHTHALMIA, SYNDROMIC 12, LIMB-MAMMARY SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COUSIN SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, HOLT-ORAM SYNDROME, ROBINOW SYNDROME, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, ?OTOFACIOCERVICAL SYNDROME 2, NESTOR-GUILLERMO PROGERIA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, NOONAN SYNDROME 10, SED CONGENITA, SPONDYLOPERIPHERAL DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ACROCAPITOFEMORAL DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, AYME-GRIPP SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, ANDROGEN INSENSITIVITY, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XV, KLIPPEL-FEIL SYNDROME 2, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

PTCH1, SOX9, BANF1, NME1, CHD7, SMAD3, SOX2, LZTR1, HNRNPK, SMAD4, AR, SP7, NR5A1, WNT5A, IKBKG, GLI3, NOTCH1, COL1A1, GATA6, HDAC6, GSC, TBX3, BUB1B, TBX15, GDF2, TUBB, EZH2, TAF6, NOG, SUFU, KDM1A, PTPN11, TBX5, CDC6, KMT2A, KDM6A, VDR, ESR1, FGFR2, IHH, AKT2, VCP, MMP13, WT1, MED12, FEZF1, ERCC6, PAX3, ALPL, GLIS3, ICK, RET, PTF1A, TBX6, POLD1, PTEN, GRIP1, PAX1, WNT1, NKX3-2, EYA1, ZEB2, MEOX1, TFAP2A, CREBBP, MAF, TP63, SKI, COL2A1, FLNA, RUNX2, SOX10, TGFBR2, RARB

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, BASAL CELL NEVUS SYNDROME, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DONNAI-BARROW SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, 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, 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, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, COFFIN-LOWRY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, SECKEL SYNDROME 5, ROBINOW SYNDROME, LEGIUS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, WEAVER SYNDROME, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, 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, COWDEN SYNDROME 7, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ?SECKEL SYNDROME 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, STICKLER SYNDROME, TYPE I, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MENTAL RETARDATION, X-LINKED 90, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1

SOX9, EZH2, DLG3, MYH11, SOX2, AXIN2, MEGF10, MAP2K2, SMAD4, TBCE, DVL3, TRPV4, IGBP1, IKBKG, GSC, PTPN11, GATA6, TGFB3, DOK7, TBX3, BUB1B, EYA1, GJA1, ACTB, ESR1, USP9X, CEP152, GRIP1, ZBTB16, SUFU, NOTCH1, FLNA, APC, CDC6, RIPK4, SPRED1, ZEB2, VDR, WNT5A, CREBBP, STK11, COL2A1, DVL1, CBL, FMR1, ITGA3, AR, CRYAB, TGFBR1, LRP2, NPR2, LIPE, ICK, DNM2, HDAC6, NME1, MET, SOS1, HRAS, EFEMP2, TTN, EIF2AK3, RPS19, CENPJ, MUSK, SMAD3, LZTR1, ATR, RPS6KA3, BRAF, CHRM3, TGFBR2, SEC23B, PROK2, SF3B4, PTEN, SKI

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, BASAL CELL NEVUS SYNDROME, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DONNAI-BARROW SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, 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, 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, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, COFFIN-LOWRY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, SECKEL SYNDROME 5, ROBINOW SYNDROME, LEGIUS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, WEAVER SYNDROME, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, 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, COWDEN SYNDROME 7, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CORNELIA DE LANGE SYNDROME 1, ?SECKEL SYNDROME 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, STICKLER SYNDROME, TYPE I, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MENTAL RETARDATION, X-LINKED 90, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1

SOX9, AR, DLG3, ZBTB16, MYH11, KMT2A, AXIN2, CBL, MAP2K2, SMAD4, ATR, DVL3, TRPV4, IGBP1, KRAS, IKBKG, PTPN11, GATA6, HDAC6, DOK7, TBX3, BUB1B, EYA1, GJA1, EIF4A3, ACTB, TAF6, USP9X, CEP152, GRIP1, SOX2, SUFU, NOTCH1, FLNA, WNT5A, CDC6, RIPK4, SPRED1, ZEB2, VDR, ESR1, MEGF10, STK11, COL2A1, DVL1, TBCE, MET, FMR1, ITGA3, LRP2, CRYAB, TGFBR1, NPR2, LIPE, ICK, DNM2, GSC, NME1, APC, SOS1, HRAS, EFEMP2, TTN, EIF2AK3, RPS19, CENPJ, MUSK, SMAD3, LZTR1, CREBBP, RPS6KA3, BRAF, CHRM3, TGFBR2, SEC23B, TGFB3, PROK2, EZH2, SF3B4, PTEN, SKI

LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, WEAVER SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, WOLCOTT-RALLISON SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, LEGIUS SYNDROME, MYHRE SYNDROME, LOEYS-DIETZ SYNDROME 3, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, MYOTUBULAR MYOPATHY, X-LINKED, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MENTAL RETARDATION, X-LINKED 90, CONGENITAL DIAPHRAGMATIC HERNIA, DIAMOND-BLACKFAN ANEMIA 7, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, OPSISMODYSPLASIA, MEIER-GORLIN SYNDROME 5, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL

ACTA1, SHOC2, TGFBR1, DLG3, SMAD3, GJA1, COL1A1, SMAD4, CREBBP, ACTB, PTPN11, EIF2AK3, MET, CDC6, KRAS, INPPL1, VCP, NOG, SPRED1, RPL11, DNM2, SOS1, HRAS, EZH2, ERCC2, TGFBR2, MYH11, BIN1, PTEN

FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, 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, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, FRANK-TER HAAR SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, COFFIN-LOWRY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, 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, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, LUJAN-FRYNS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, 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, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?TETRA-AMELIA SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, NESTOR-GUILLERMO PROGERIA SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, 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, CORNELIA DE LANGE SYNDROME 1, ?SECKEL SYNDROME 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, SECKEL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, 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, KLIPPEL-FEIL SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PALLISTER-HALL SYNDROME, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?MICROPHTHALMIA, SYNDROMIC 1, BRACHYOLMIA TYPE 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

WNT5A, KISS1, NAA10, ACOX1, ACTB, LBR, IGBP1, IKBKG, UBA1, CDC6, GJA1, SOX10, STK11, NOG, ITGA3, CLASP1, COL1A1, DNM2, DES, ALG2, EFEMP2, ERCC2, WNT4, MEOX1, CREBBP, SF3B4, MUSK, ACTA1, SOX9, GRIP1, KRAS, AXIN2, MAP2K2, LZTR1, AR, GNAS, NOTCH1, MMP13, TAF6, CBL, MET, AGRN, ICK, TGFBR1, TNFRSF1A, ZBTB16, GSC, CHD7, RPS6KA3, TP63, VCP, ARHGAP31, BANF1, BMP1, SMAD4, DVL3, LMX1B, PTH1R, HDAC6, LRP5, PQBP1, RAPSN, TUBB, FLNA, SOX2, INPPL1, AIP, IGF1R, MED12, SH3PXD2B, EZH2, GLI3, EFNB1, PEX5, TRPV4, CHRM3, RUNX2, CENPJ, EYA1, DLG3, SMAD3, SEMA3A, HNRNPK, PAX3, WNT3, PTPN11, GATA6, DVL1, ESR1, INSR, CENPE, SOS1, NIPBL, WT1, RPL11, WNT1, RET, APC, PTEN, HRAS, LRP2, IFT80, MYH11, ATR, NEB, TGFBR2, SKI

BASAL CELL NEVUS SYNDROME, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, OSTEOGLOPHONIC DYSPLASIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?DYSTONIA, JUVENILE-ONSET, DONNAI-BARROW SYNDROME, PREMATURE OVARIAN FAILURE 7, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, NEUROFIBROMATOSIS-NOONAN SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, HAMAMY SYNDROME, LOEYS-DIETZ SYNDROME 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

VDR, ACTA1, LRP2, FGFR2, AR, LEP, FGFR1, SMAD3, AGRN, CYP21A2, NF1, CREBBP, HSPG2, ESR1, IRX5, ACTB, PTCH1, NR5A1, GLI3, RUNX2

MYOTUBULAR MYOPATHY, X-LINKED, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, 3-M SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, FIBROCHONDROGENESIS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PERIODIC FEVER, FAMILIAL, OSTEOGENESIS IMPERFECTA, TYPE II, DONNAI-BARROW SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, ADULT SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LIMB-MAMMARY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FIBROCHONDROGENESIS 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, LEOPARD SYNDROME 1

ACTA1, NRAS, MYH11, KRAS, CBL, MAP2K2, PAX3, PTPN11, COL11A1, COL11A2, FGFR1, ESR1, HRAS, SOS1, DDR2, INPPL1, FGFR2, VCP, SH3PXD2B, COL1A1, DNM2, DES, COL1A2, TNFRSF1A, LRP2, PTEN, SMAD3, CREBBP, TP63, SOX10, CUL7

BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, STICKLER SYNDROME, TYPE I, CONGENITAL DIAPHRAGMATIC HERNIA, FRASER SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ?OTOFACIOCERVICAL SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SHPRINTZEN-GOLDBERG 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, MOWAT-WILSON SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, LUJAN-FRYNS 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, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MICROPHTHALMIA, SYNDROMIC 12, LIMB-MAMMARY SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COUSIN SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, HOLT-ORAM SYNDROME, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, ?OTOFACIOCERVICAL SYNDROME 2, NESTOR-GUILLERMO PROGERIA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, NOONAN SYNDROME 10, SED CONGENITA, SPONDYLOPERIPHERAL DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, AYME-GRIPP SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, ANDROGEN INSENSITIVITY, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XV, KLIPPEL-FEIL SYNDROME 2, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, AU-KLINE SYNDROME

PTCH1, SOX9, BANF1, NME1, CHD7, SMAD3, SOX2, LZTR1, HNRNPK, SMAD4, AR, SP7, NR5A1, WNT5A, IKBKG, GLI3, NOTCH1, COL1A1, GATA6, HDAC6, GSC, TBX3, BUB1B, TBX15, GDF2, TUBB, EZH2, TAF6, NOG, SUFU, KDM1A, TBX5, CDC6, KMT2A, KDM6A, VDR, ESR1, FGFR2, IHH, AKT2, VCP, MMP13, WT1, MED12, FEZF1, ERCC6, PAX3, GLIS3, ICK, RET, PTF1A, TBX6, POLD1, PTEN, GRIP1, PAX1, WNT1, NKX3-2, EYA1, ZEB2, MEOX1, TFAP2A, CREBBP, MAF, TP63, SKI, COL2A1, FLNA, RUNX2, SOX10, TGFBR2, RARB

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, MEIER-GORLIN SYNDROME 1, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, RUBINSTEIN-TAYBI SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SECKEL SYNDROME 1, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, FRAGILE X SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MALOUF SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, {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, ?AL-GAZALI-BAKALINOVA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, MEIER-GORLIN SYNDROME 4, DESBUQUOIS DYSPLASIA 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SMITH-MCCORT DYSPLASIA 2, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, HYPOPHOSPHATASIA, CHILDHOOD, OVARIAN DYSGENESIS 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, PALLISTER-HALL SYNDROME, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, COLE DISEASE, WARBURG MICRO SYNDROME 3

ACTA1, LMNA, TGFBR1, CHD7, MYH11, KRAS, PEX1, ABCC6, PEX5, SMAD4, CREBBP, HSD17B4, CLASP1, PIGT, IKBKG, IGBP1, NOTCH1, AR, TPM2, HDAC6, VCP, ATP7A, TAF6, BUB1B, CBS, RAB33B, TUBB, MCM9, SNRPB, TRAPPC2, INSR, CENPE, FLNA, PCNT, CBL, GJA1, CANT1, ESR1, IGHMBP2, RAB18, DVL1, TBCE, MET, RPL11, FMR1, KIF1B, ABCC9, MYH2, TNNT1, GNAS, ERCC6, DNM2, CDT1, NME1, SOS1, HRAS, UBE2A, GRIP1, ABCD4, ZBTB16, ERCC2, ORC1, TNNT2, ACTB, PTEN, ALPL, SMAD3, ATR, ENPP1, CHRM3, KIF7, EIF4A3, BRAF, GNRH1, MEGF10, DYNC2H1, NF1, MCM8

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, 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, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, ATELOSTEOGENESIS, TYPE I, TARP SYNDROME, DONNAI-BARROW SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, 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, WEAVER SYNDROME, PYCNODYSOSTOSIS, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 19, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, METATROPIC DYSPLASIA, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, 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, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CATSHL SYNDROME, MEIER-GORLIN SYNDROME 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NOONAN SYNDROME 4, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, 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, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, SECKEL SYNDROME 1, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SECKEL SYNDROME 7, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, LUJAN-FRYNS SYNDROME, BOHRING-OPITZ SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEIER-GORLIN SYNDROME 4, SCLEROSTEOSIS 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, SECKEL SYNDROME 5, INCONTINENTIA PIGMENTI, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, VAN DEN ENDE-GUPTA SYNDROME, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, LEGIUS SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, SCLEROSTEOSIS 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, NESTOR-GUILLERMO PROGERIA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, NAIL-PATELLA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, WARBURG MICRO SYNDROME 3, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ALAGILLE SYNDROME, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MICROPHTHALMIA, SYNDROMIC 1, OSTEOGENESIS IMPERFECTA, TYPE XIII, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, PERLMAN SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CORNELIA DE LANGE SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, FRAGILE X SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, BRACHYOLMIA TYPE 3, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, STICKLER SYNDROME, TYPE I, OVARIAN DYSGENESIS 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, COLE DISEASE, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MEIER-GORLIN SYNDROME 1, NOONAN SYNDROME 10, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, OSTEOGENESIS IMPERFECTA, TYPE XV, COWDEN SYNDROME 7, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 2, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, LOEYS-DIETZ SYNDROME 4, SIALURIA, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

GNE, FSHB, MARS2, WNT5A, ORC4, COL1A1, NAA10, NEK1, ACTB, LBR, GNAS, IKBKG, COL3A1, FMR1, CUL7, TBX3, ENPP1, COL11A2, LEP, COL5A1, PIGT, TRAPPC2, NOTCH3, UBA1, CDC6, UBE2A, SOX10, IGHMBP2, STK11, PLS3, NOG, LIPE, WT1, ERCC6, PPP1R15B, DNM2, DES, CDT1, PCNT, LTBP4, BMPER, RPS19, ERCC2, EMD, TGFBR2, CREBBP, COL13A1, BAG3, SOX2, DYNC2H1, SF3B4, PTEN, ACTA1, WNT7A, RPS28, GRIP1, IL1RN, RSPO1, GJA1, CBL, FOXL2, LZTR1, NME1, SP7, ANOS1, IGBP1, NOTCH1, BUB1B, FGFR1, EDA, MMP13, TAF6, ASXL1, SCARF2, COL1A2, AKT2, AGRN, CEP152, ESR1, MEGF10, COL2A1, HS6ST1, MET, RPL11, SPRED1, RBM10, ICK, NRAS, GLIS3, WNT1, TGFBR1, FGFR3, DHODH, ROR2, ABCD4, KRAS, TNNT2, GSC, RAB18, CHD7, RPS6KA3, TP63, DVL3, VCP, SEC23B, BIN1, RAB33B, MCM8, PTCH1, DIS3L2, BANF1, GPC3, GLB1, DVL1, BMP1, GLE1, TGFB2, SMAD4, CTSK, CBS, LMX1B, TPM2, HDAC6, LRP5, MED12, NIN, SOX9, BICD2, KIF1B, SNRPB, RAPSN, TUBB, LTBP2, TNFRSF1A, FLNA, DDR2, RIPK4, FBLN5, INPPL1, VDR, FHL1, TBX5, IGF1R, TANGO2, MYH2, FBN1, MAP2K2, EZH2, GLI3, POLD1, KISS1R, GATA6, TTN, ZBTB16, SOST, EFNB1, NF1, TRPV4, MUSK, CRYAB, ADA, CHRM3, EIF4A3, RBM28, RUNX2, GDF2, ABCC6, LRP4, AIP, PEX1, CUL4B, AR, DLG3, SMAD3, SEMA3A, MCM9, HNRNPK, PAX3, ALDH18A1, HSD17B4, JAG1, CENPE, PDHX, NAGLU, EIF2AK3, EXT2, ORC1, INSR, PTPN11, SOS1, KIF7, FGFR2, BRAF, ITGA3, ABCC9, MAPRE2, OFD1, RAB40AL, ALPL, CLASP1, RET, APC, FLNB, HRAS, LRP2, ATP7A, IFT80, GNRH1, MYH11, NPR2, ATR, HSPG2, PRLR, KIF1BP, PTPRF, PEX5, SKI

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, MEIER-GORLIN SYNDROME 1, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, RUBINSTEIN-TAYBI SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SECKEL SYNDROME 1, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, FRAGILE X SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MALOUF SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, {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, ?AL-GAZALI-BAKALINOVA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, MEIER-GORLIN SYNDROME 4, DESBUQUOIS DYSPLASIA 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SMITH-MCCORT DYSPLASIA 2, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, HYPOPHOSPHATASIA, CHILDHOOD, OVARIAN DYSGENESIS 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, PALLISTER-HALL SYNDROME, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, COLE DISEASE, WARBURG MICRO SYNDROME 3

ACTA1, LMNA, TGFBR1, CHD7, MYH11, KRAS, PEX1, ABCC6, PEX5, SMAD4, CREBBP, HSD17B4, CLASP1, PIGT, IKBKG, IGBP1, NOTCH1, AR, TPM2, HDAC6, VCP, ATP7A, TAF6, BUB1B, CBS, RAB33B, TUBB, MCM9, SNRPB, TRAPPC2, INSR, CENPE, FLNA, PCNT, CBL, GJA1, CANT1, ESR1, IGHMBP2, RAB18, DVL1, TBCE, MET, RPL11, FMR1, KIF1B, ABCC9, MYH2, TNNT1, GNAS, ERCC6, DNM2, CDT1, NME1, SOS1, HRAS, UBE2A, GRIP1, ABCD4, ZBTB16, ERCC2, ORC1, TNNT2, ACTB, PTEN, ALPL, SMAD3, ATR, ENPP1, CHRM3, KIF7, EIF4A3, BRAF, GNRH1, MEGF10, DYNC2H1, NF1, MCM8

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, 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, 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, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CATSHL SYNDROME, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?HYPERPROLACTINEMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MEIER-GORLIN SYNDROME 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 10, NEUROFIBROMATOSIS-NOONAN SYNDROME, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, OPSISMODYSPLASIA, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, LEGIUS SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?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, NAIL-PATELLA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SECKEL SYNDROME 5, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, MEIER-GORLIN SYNDROME 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FRAGILE X SYNDROME, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, BRACHYOLMIA TYPE 3, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, TARP SYNDROME, OVARIAN DYSGENESIS 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ADULT SYNDROME, ESTROGEN RESISTANCE, COLE DISEASE, MEIER-GORLIN SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COWDEN SYNDROME 7, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?MICROPHTHALMIA, SYNDROMIC 1, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, DIAMOND-BLACKFAN ANEMIA 1, SECKEL SYNDROME 1, LOEYS-DIETZ SYNDROME 4, SIALURIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

DNM2, WNT5A, DIS3L2, COL1A1, NAA10, NEK1, ACTB, LBR, GNAS, ENPP1, LEP, UBA1, CDC6, DDR2, EIF4A3, IGHMBP2, STK11, LIPE, ERCC6, NPR2, MARS2, CDT1, PCNT, ERCC2, TGFBR2, CREBBP, GNE, DYNC2H1, SF3B4, PEX5, ACTA1, WNT7A, DVL3, GRIP1, FGFR3, KRAS, MEGF10, MAP2K2, LZTR1, NME1, IGBP1, NOTCH1, BUB1B, FGFR1, TAF6, AKT2, CEP152, CBL, MET, RPL11, SPRED1, RBM10, ICK, FMR1, TGFBR1, TNFRSF1A, ABCD4, ZBTB16, TNNT2, GSC, CHD7, RPS6KA3, TP63, VCP, SEC23B, MCM8, ORC4, BANF1, ALPL, DVL1, UBE2A, PEX1, TGFB2, SMAD4, RPS28, CBS, LMX1B, HDAC6, FLNA, GJA1, SOX9, BICD2, KIF1B, SNRPB, RAPSN, TUBB, ROR2, RIPK4, BIN1, INPPL1, VDR, IGF1R, MYH2, ABCC6, EZH2, POLD1, KISS1R, TTN, RPS19, EFNB1, NF1, TRPV4, MUSK, CHRM3, RBM28, RUNX2, AIP, GLE1, AR, DLG3, MYH11, SEMA3A, MCM9, HNRNPK, ATR, HSD17B4, CENPE, GATA6, NAGLU, EIF2AK3, ESR1, ORC1, INSR, PTPN11, SOS1, KIF7, FGFR2, BRAF, ABCC9, PDHX, CRYAB, CLASP1, RET, APC, PTEN, HRAS, LRP2, ATP7A, GNRH1, SMAD3, PPP1R15B, ALDH18A1, PRLR, PTPRF, SKI

LYSYL HYDROXYLASE 3 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, AORTIC ANEURYSM, FAMILIAL THORACIC 9, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, GM1-GANGLIOSIDOSIS, TYPE I, EXOSTOSES, MULTIPLE, TYPE 1, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LATERAL MENINGOCELE SYNDROME, SPONDYLOOCULAR SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, RESTRICTIVE DERMOPATHY, LETHAL, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, ESTROGEN RESISTANCE, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, CONGENITAL DIAPHRAGMATIC HERNIA, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), DESBUQUOIS DYSPLASIA 2, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, PETERS-PLUS SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, OSTEOGENESIS IMPERFECTA, TYPE II, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LOEYS-DIETZ SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

B4GALT7, TGFB2, KRAS, COL1A1, XYLT2, EXT1, GPC3, B3GAT3, XYLT1, NOTCH1, GLB1, B3GLCT, PLOD3, ESR1, MGAT2, ALG11, HRAS, SOX10, VCP, MET, CRYAB, ZMPSTE24, DPAGT1, DES, ALG2, MFAP5, NOTCH3, B3GALT6, MYH11, HSPG2, EXT2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, NEMALINE MYOPATHY 9, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MANNOSIDOSIS, ALPHA-, TYPES I AND II, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ATELOSTEOGENESIS, TYPE I, 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, CEREBROCOSTOMANDIBULAR SYNDROME, 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, COLE-CARPENTER SYNDROME 2, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, LOEYS-DIETZ SYNDROME 2, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, FRASER SYNDROME, PYCNODYSOSTOSIS, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, INCONTINENTIA PIGMENTI, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, BOHRING-OPITZ SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, LUJAN-FRYNS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, FRANK-TER HAAR SYNDROME, OCCIPITAL HORN SYNDROME, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MICROPHTHALMIA, SYNDROMIC 12, GELEOPHYSIC DYSPLASIA 1, KOOLEN-DE VRIES SYNDROME, BORJESON-FORSSMAN-LEHMANN SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JOHANSON-BLIZZARD SYNDROME, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, PRECOCIOUS PUBERTY, CENTRAL, 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSTEOGENESIS IMPERFECTA, TYPE XIII, 46XY SEX REVERSAL 3, PERLMAN SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, WAARDENBURG SYNDROME, TYPE 1, SECKEL SYNDROME 9, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, TARP SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, 3MC SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, METATROPIC DYSPLASIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COWDEN SYNDROME 7, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, COLE DISEASE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

FSHB, EZH2, WNT5A, TRAIP, SEC24D, COL1A1, ACTB, IKBKG, COL1A2, ENPP1, LEP, KDM1A, UBA1, CDC6, BMP1, SOX10, IGHMBP2, STK11, MAN2B1, WT1, ERCC6, KISS1, DNM2, DES, NOTCH1, BMPER, JAG1, ERCC2, TGFBR2, CREBBP, SOX2, SF3B4, MYH2, RARB, ACTA1, WNT7A, DVL3, GRIP1, XRCC4, FBLN5, AXIN2, LZTR1, NME1, TRPV4, IFT172, BUB1B, FGFR1, TAF6, CBL, KDM5C, MMP13, ADAMTS10, RBM10, ICK, TNNT1, TGFBR1, MKRN3, ZBTB16, TNNT2, GSC, KLHL41, TNFRSF1A, ADAMTSL2, KMT2A, UPF3B, SEC23B, PTCH1, DIS3L2, ALPL, UBE2A, SOX9, SMAD4, CTSK, CBS, UBR1, LMX1B, HDAC6, FLNA, GJA1, SNRPB, RAPSN, TUBB, ROR2, RSPO1, KANSL1, VDR, FLNB, FHL1, DVL1, TANGO2, FBN1, SH3PXD2B, IHH, GLI3, NF1, IL1RN, MUSK, MAF, ADA, CHRM3, KDM6A, HRAS, RUNX2, CUL4B, AR, DLG3, MYH11, BIN1, MASP1, HNRNPK, PAX3, ASXL1, NR5A1, PHF6, CENPE, MAPRE2, VCP, EIF2AK3, COL11A1, ORC1, INSR, TRPS1, PTPN11, SOS1, MED12, BRAF, EDARADD, RPL11, GATA6, CRYAB, APC, PTEN, MFAP5, ATP7A, GNRH1, SERPINF2, SMAD3, HSPG2, ESR1, KIF1BP, PEX5, SKI

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, CRANIOFRONTONASAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, INCONTINENTIA PIGMENTI, BENT BONE DYSPLASIA SYNDROME, PERIODIC FEVER, FAMILIAL, 46,XX SEX REVERSAL, TYPE 2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LEGIUS SYNDROME, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, LOEYS-DIETZ SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, LOEYS-DIETZ SYNDROME 2, SECKEL SYNDROME 9, KEUTEL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, LEOPARD SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL

ACTA1, SOX9, TGFB2, SMAD3, KRAS, TRAIP, CBL, GNRH1, SMAD4, DVL3, IKBKG, PTPN11, TGFB3, LIFR, GDF2, EDA, LEP, TNFRSF1A, TNFRSF11B, GJA1, FGFR2, DVL1, SPRED1, CRYAB, TNNT1, TGFBR1, PTEN, HRAS, MGP, TGFBR2, IL1RN, CREBBP, HSPG2, EFNB1, ESR1, RUNX2, GSC

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, ROBINOW SYNDROME, WEAVER SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, 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, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, FAMILIAL, ANDROGEN INSENSITIVITY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, 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, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XV, OSTEOGENESIS IMPERFECTA, TYPE XIII, SCLEROSTEOSIS 2, CONGENITAL DIAPHRAGMATIC HERNIA, PALLISTER-HALL SYNDROME, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MULTIPLE SYNOSTOSES SYNDROME 1, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, LOEYS-DIETZ SYNDROME 2, KEUTEL SYNDROME, LOEYS-DIETZ SYNDROME 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1

WNT7A, EZH2, TGFB2, LRP4, COL1A1, SMAD4, AR, GDF6, COL3A1, FLNA, GDF2, MMP13, LEP, COL1A2, TNFRSF11B, BMP1, WNT5A, NOG, WNT1, TGFBR1, GLI3, PTEN, TNFRSF1A, ARSB, BMPER, MGP, GSC, SMAD3, PAX3, CREBBP, HSPG2, GNRH1, ESR1, PTPN11, RUNX2, TGFBR2

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, CORNELIA DE LANGE SYNDROME 1, AYME-GRIPP SYNDROME, WEAVER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, ?OTOFACIOCERVICAL SYNDROME 2, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NESTOR-GUILLERMO PROGERIA SYNDROME, INCONTINENTIA PIGMENTI, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, ?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, BANNAYAN-RILEY-RUVALCABA SYNDROME, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, NOONAN SYNDROME 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MICROPHTHALMIA, SYNDROMIC 12, KLIPPEL-FEIL SYNDROME 2, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, ?OTOFACIOCERVICAL SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, HOLT-ORAM SYNDROME, RUBINSTEIN-TAYBI SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LUJAN-FRYNS SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, ROBINOW SYNDROME, AU-KLINE SYNDROME

SOX9, BANF1, NME1, SMAD3, SOX2, LZTR1, HNRNPK, TFAP2A, AR, SP7, NR5A1, WNT5A, IKBKG, NOTCH1, GATA6, TBX3, BUB1B, GDF2, SUFU, TBX5, PAX1, KMT2A, KDM6A, VDR, FGFR2, AKT2, VCP, MMP13, MED12, FEZF1, NKX3-2, GLIS3, PAX3, RET, GSC, GLI3, EZH2, EFNB1, PTEN, ZEB2, MEOX1, SMAD4, CREBBP, MAF, ESR1, TGFBR2, RUNX2, SOX10, EYA1, RARB

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, AYME-GRIPP SYNDROME, WEAVER SYNDROME, ?OTOFACIOCERVICAL SYNDROME 2, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NESTOR-GUILLERMO PROGERIA SYNDROME, INCONTINENTIA PIGMENTI, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, MOWAT-WILSON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, ?OSTEOGENESIS IMPERFECTA, TYPE XII, PREMATURE OVARIAN FAILURE 7, BRANCHIOOCULOFACIAL SYNDROME, CRANIOFRONTONASAL DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, NOONAN SYNDROME 10, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, KLIPPEL-FEIL SYNDROME 2, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, LOEYS-DIETZ SYNDROME 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CORNELIA DE LANGE SYNDROME 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, ROBINOW SYNDROME, AU-KLINE SYNDROME

SOX9, BANF1, EZH2, SMAD3, SOX2, LZTR1, HNRNPK, TFAP2A, AR, SP7, NR5A1, IKBKG, NOTCH1, TBX3, PAX1, KMT2A, KDM6A, WNT5A, VCP, MMP13, MED12, FEZF1, NKX3-2, GLIS3, SUFU, RET, GLI3, PTEN, EFNB1, GSC, MEOX1, SMAD4, CREBBP, MAF, ESR1, ZEB2, SOX10, TGFBR2, PAX3

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, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, 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, CEREBROCOSTOMANDIBULAR SYNDROME, PRIMROSE SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CATSHL SYNDROME, MEIER-GORLIN SYNDROME 1, LOEYS-DIETZ SYNDROME 2, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, FRASER SYNDROME, ?HYPERPROLACTINEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, ?OTOFACIOCERVICAL SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, RUIJS-AALFS SYNDROME, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, BOHRING-OPITZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, LUJAN-FRYNS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, 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, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FRONTONASAL DYSPLASIA 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MICROPHTHALMIA, SYNDROMIC 12, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, INCONTINENTIA PIGMENTI, KOOLEN-DE VRIES SYNDROME, BORJESON-FORSSMAN-LEHMANN SYNDROME, MALOUF SYNDROME, COUSIN SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SOTOS SYNDROME 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, PANCREATIC AND CEREBELLAR AGENESIS, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, AROMATASE EXCESS SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, LOEYS-DIETZ SYNDROME 5, ?OTOFACIOCERVICAL SYNDROME 2, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NOONAN SYNDROME 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, MEIER-GORLIN SYNDROME 3, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MICROPHTHALMIA, SYNDROMIC 1, 46XY SEX REVERSAL 3, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ABLEPHARON-MACROSTOMIA SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, ?SECKEL SYNDROME 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, BARBER-SAY SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OVARIAN DYSGENESIS 3, ANDROGEN INSENSITIVITY, PERIODIC FEVER, FAMILIAL, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, STICKLER SYNDROME, TYPE I, OVARIAN DYSGENESIS 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MOWAT-WILSON SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, KLIPPEL-FEIL SYNDROME 2, MARSHALL-SMITH SYNDROME, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SECKEL SYNDROME 1, LOEYS-DIETZ SYNDROME 4, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

FSHB, MARS2, PLOD3, WNT5A, ORC4, KISS1, ICK, NAA10, ACTB, LBR, GNAS, IKBKG, COL1A2, NKX3-2, ALPL, TBX3, TBX15, LEP, SOX2, KDM1A, CDC6, IRX5, ZEB2, IGHMBP2, STK11, ZBTB20, NOG, FMR1, WT1, ERCC6, BAG3, COL1A1, DNM2, CDT1, SOS1, EFEMP2, PAX1, BMPER, ERCC2, TGFBR2, MEOX1, CREBBP, COL2A1, SF3B4, NF1, RARB, ACTA1, SHOC2, GRIP1, IL1RN, KRAS, SUFU, AXIN2, FOXL2, LZTR1, NME1, SP7, IGBP1, NOTCH1, PTF1A, BUB1B, FGFR1, MMP13, TAF6, AKT2, KDM5C, LMNA, MET, CRYAB, TNNT1, GLIS3, WNT1, TGFBR1, FGFR3, ORC6, TNFRSF1A, EZH2, ZBTB16, TNNT2, EYA1, BIN1, RPS6KA3, TP63, KMT2A, VCP, TGFB3, GDF2, MCM8, PTCH1, DIS3L2, BANF1, PSMC3IP, SETBP1, UBE2A, SOX9, TGFB2, SERPINH1, SMAD4, DVL3, CBS, LMX1B, HDAC6, CHD7, GJA1, PQBP1, TUBB, SNRPB, RAPSN, HES7, ROR2, TBX5, FBN2, RSPO1, KANSL1, VDR, IGF1R, RBM8A, ALX3, MYH2, TWIST2, IHH, GLI3, POLD1, NOTCH3, EFNB1, PEX5, XRCC4, MUSK, MAF, CHRM3, KDM6A, TFAP2A, RBM28, RUNX2, CENPJ, GSC, AIP, CUL4B, AR, FLNA, MYH11, SEMA3A, MCM9, LHB, HNRNPK, PAX3, ASXL1, CYP19A1, PHF6, NR5A1, CENPE, MAPRE2, DVL1, COL11A1, ESR1, ORC1, INSR, TRPS1, PTPN11, SPRTN, MED12, FGFR2, FEZF1, RPL11, GATA6, GPX4, CLASP1, RET, TBX6, APC, PTEN, HRAS, WNT4, GNRH1, SERPINF2, SMAD3, NFIX, ATR, PRLR, KIF1BP, SOX10, SKI

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, WEAVER SYNDROME, ESTROGEN RESISTANCE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ANDROGEN INSENSITIVITY

SOX9, AR, GSC, SMAD3, SMAD4, CREBBP, ESR1, KDM1A, EZH2, RUNX2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, 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, 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, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CATSHL SYNDROME, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?HYPERPROLACTINEMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, SECKEL SYNDROME 7, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, PEUTZ-JEGHERS SYNDROME, LUJAN-FRYNS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, OPSISMODYSPLASIA, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, NESTOR-GUILLERMO PROGERIA SYNDROME, ROBINOW SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, LEGIUS SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SECKEL SYNDROME 5, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, MEIER-GORLIN SYNDROME 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, FRAGILE X SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, INCONTINENTIA PIGMENTI, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, TARP SYNDROME, OVARIAN DYSGENESIS 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, COLE DISEASE, MEIER-GORLIN SYNDROME 1, NOONAN SYNDROME 10, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COWDEN SYNDROME 7, MENTAL RETARDATION, X-LINKED 90, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, WARBURG MICRO SYNDROME 3, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, SECKEL SYNDROME 1, LOEYS-DIETZ SYNDROME 4, SIALURIA, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

LMNA, MARS2, PLOD3, WNT5A, ORC4, COL1A1, NAA10, ACOX1, NEK1, ACTB, LBR, SEMA3E, IKBKG, COL1A2, ENPP1, LEP, PIGT, TRAPPC2, KDM1A, UBA1, CDC6, GJA1, EIF4A3, IGHMBP2, STK11, PLS3, LIPE, IBA57, ERCC6, NPR2, DNM2, CDT1, PCNT, ERCC2, TGFBR2, CREBBP, GNE, DYNC2H1, SF3B4, PTEN, ACTA1, WNT7A, DVL3, GRIP1, XRCC4, KRAS, RBM8A, MEGF10, MAP2K2, LZTR1, NME1, SP7, TRPV4, GNAS, NOTCH1, BUB1B, FGFR1, MMP13, TAF6, AKT2, CEP152, CBL, MET, RPL11, SPRED1, RBM10, ICK, NRAS, FMR1, CRYAB, TGFBR1, DHODH, ROR2, ABCD4, ZBTB16, TNNT2, GSC, RAB18, BIN1, RPS6KA3, TP63, VCP, SEC23B, TMEM165, RAB33B, MCM8, DIS3L2, BANF1, ALPL, DVL1, DDR2, PEX1, TGFB2, SMAD4, RPS28, CBS, INSR, LMX1B, TPM2, HDAC6, CHD7, NIN, SOX9, BICD2, KIF1B, SNRPB, RAPSN, TUBB, TNFRSF1A, FLNA, RIPK4, SOX2, INPPL1, VDR, PCYT1A, IGF1R, MED12, MYH2, ABCC6, EZH2, POLD1, KISS1R, GATA6, TTN, RPS19, EFNB1, NF1, FGFR3, MUSK, CHRM3, RBM28, RUNX2, AIP, GLE1, CUL4B, AR, DLG3, SMAD3, SEMA3A, MCM9, HNRNPK, ALDH18A1, HSD17B4, CENPE, PDHX, NAGLU, EIF2AK3, PRLR, ORC1, IGBP1, PTPN11, UPF3B, SOS1, KIF7, FGFR2, BRAF, WT1, UBE2A, ABCC9, MAPRE2, OFD1, RAB40AL, PLOD2, CLASP1, RET, APC, HRAS, LRP2, ATP7A, GNRH1, MYH11, PPP1R15B, ATR, ESR1, HPGD, FLNB, PTPRF, PEX5, SKI

LOEYS-DIETZ SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, LOEYS-DIETZ SYNDROME 5, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, MULTIPLE ENDOCRINE NEOPLASIA IIB, THANATOPHORIC DYSPLASIA, TYPE I, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XIII, CONGENITAL DIAPHRAGMATIC HERNIA, ACROCAPITOFEMORAL DYSPLASIA, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, WAARDENBURG SYNDROME, TYPE 1, ALAGILLE SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, HOLT-ORAM SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SADDAN, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

ACTA1, SOX9, RET, TGFB2, SMAD3, SOX2, COL1A1, PAX3, GPC3, GDF6, NOTCH1, TGFB3, GDF2, FGFR1, NOG, LEP, TBX5, SOS1, GJA1, IHH, MMP13, PROK2, TGFBR1, BMP1, HRAS, BMPER, JAG1, GNRH1, TGFBR2, FGFR3, CREBBP, HSPG2, ESR1, RUNX2, PTEN

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NEMALINE MYOPATHY 9, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MANNOSIDOSIS, ALPHA-, TYPES I AND II, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, 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, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, 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, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, COLE-CARPENTER SYNDROME 2, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, METATROPIC DYSPLASIA, LOEYS-DIETZ SYNDROME 2, LEOPARD SYNDROME 3, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, FRASER SYNDROME, PYCNODYSOSTOSIS, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE VIII, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, INCONTINENTIA PIGMENTI, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, BOHRING-OPITZ SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, LUJAN-FRYNS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, FRANK-TER HAAR SYNDROME, OCCIPITAL HORN SYNDROME, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MICROPHTHALMIA, SYNDROMIC 12, GELEOPHYSIC DYSPLASIA 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BORJESON-FORSSMAN-LEHMANN SYNDROME, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JOHANSON-BLIZZARD SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, PRECOCIOUS PUBERTY, CENTRAL, 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, AROMATASE EXCESS SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, VITAMIN D-DEPENDENT RICKETS, TYPE I, NOONAN SYNDROME 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, 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, NOONAN SYNDROME 10, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, KOOLEN-DE VRIES SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, 46XY SEX REVERSAL 3, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PERLMAN SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, WAARDENBURG SYNDROME, TYPE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SECKEL SYNDROME 9, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, TARP SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, 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, COLE DISEASE, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MEIER-GORLIN SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COWDEN SYNDROME 7, MENTAL RETARDATION, X-LINKED 90, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

FSHB, EZH2, PLOD3, WNT5A, TRAIP, SEC24D, COL1A1, ACTB, LBR, IGBP1, IKBKG, COL1A2, ENPP1, LEP, PIGT, KDM1A, UBA1, CDC6, BMP1, SOX10, IGHMBP2, STK11, MAN2B1, WT1, ERCC6, KISS1, DNM2, DES, SERPINH1, NOTCH1, EFEMP2, BMPER, JAG1, ERCC2, TGFBR2, CREBBP, TNNT1, P3H1, SOX2, SF3B4, PEX5, RARB, ACTA1, WNT7A, DVL3, GRIP1, XRCC4, FBLN5, AXIN2, FOXL2, LZTR1, NME1, SP7, TRPV4, GNAS, IFT172, BUB1B, FGFR1, TAF6, AGRN, LMX1B, CBL, KDM5C, LMNA, MMP13, ADAMTS10, RBM10, ICK, CRYAB, TGFBR1, TNFRSF1A, ZBTB16, TNNT2, GSC, CYP21A2, KLHL41, ADAMTSL2, KMT2A, VCP, CYP2R1, SEC23B, PTCH1, DIS3L2, GPC3, ALPL, UBE2A, SOX9, TGFB2, SMAD4, CTSK, CBS, UBR1, CYP27B1, HDAC6, FLNA, GJA1, SNRPB, RAPSN, TUBB, ROR2, RIPK4, RSPO1, KANSL1, VDR, FLNB, FHL1, IGF1R, TANGO2, MYH2, FBN1, SH3PXD2B, IHH, GLI3, RPS19, NF1, IL1RN, MUSK, MAF, ADA, CHRM3, KDM6A, HRAS, RUNX2, CUL4B, AR, DLG3, MYH11, BIN1, MASP1, HNRNPK, PAX3, ASXL1, CYP19A1, PHF6, NR5A1, CENPE, MAPRE2, DVL1, EIF2AK3, COL11A1, ORC1, INSR, TRPS1, PTPN11, UPF3B, SOS1, MED12, BRAF, EDARADD, RPL11, GATA6, GPX4, MKRN3, PLOD2, B4GALT7, APC, PTEN, MFAP5, LRP2, ATP7A, GNRH1, SERPINF2, SMAD3, HSPG2, ESR1, CYP17A1, KIF1BP, SKI

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, MYOPATHY, MYOFIBRILLAR, 6, OSTEOGLOPHONIC DYSPLASIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, THANATOPHORIC DYSPLASIA, TYPE I, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, STICKLER SYNDROME, TYPE I, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, MARFAN LIPODYSTROPHY SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, CATSHL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SADDAN, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

TGFB2, FGFR3, COL1A1, AR, GNAS, COL3A1, TGFB3, GDF2, FGFR1, LEP, COL5A1, INSR, LTBP2, NOTCH1, SOS1, SOX10, FGFR2, IGF1R, LIFR, FBN1, BAG3, CLASP1, TGFBR1, COL1A2, HRAS, LTBP4, RPS19, TGFBR2, MYH11, HSPG2, ESR1, COL2A1, SF3B4, PTEN

LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VAN DEN ENDE-GUPTA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, 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, LARSEN SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ANDROGEN INSENSITIVITY, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, COLE-CARPENTER SYNDROME 2, DONNAI-BARROW SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRONTOMETAPHYSEAL DYSPLASIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, METATROPIC DYSPLASIA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ATELOSTEOGENESIS, TYPE I, ?MICROPHTHALMIA, SYNDROMIC 1, OPSISMODYSPLASIA, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, MANDIBULOACRAL DYSPLASIA, CORNELIA DE LANGE SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BRACHYOLMIA TYPE 3, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, RESTRICTIVE DERMOPATHY, LETHAL, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, LEOPARD SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

ACTA1, LMNA, TGFBR1, PLS3, MYH11, KMT2A, SMAD4, AR, UBE2A, IGBP1, FLNA, PTPN11, TPM2, HDAC6, IGF1R, GJA1, ANTXR1, RAPSN, TUBB, SCARF2, AKT2, SOS1, SOX2, INPPL1, CBL, DVL1, TANGO2, GATA6, CLASP1, DNM2, APC, PTEN, HRAS, LRP2, TTN, EMD, ACTB, MYH2, TRPV4, NAA10, TNNT2, NEB, VCP, FLNB, SF3B4, SEC24D

BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, BRANCHIOOCULOFACIAL SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, FRASER SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, SCALP-EAR-NIPPLE SYNDROME, ?OTOFACIOCERVICAL SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, BOHRING-OPITZ SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INCONTINENTIA PIGMENTI, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, LUJAN-FRYNS SYNDROME, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, LIMB-MAMMARY SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, ACHONDROGENESIS, TYPE IA, COUSIN SYNDROME, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, FRAGILE X SYNDROME, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OVARIAN DYSGENESIS 3, ANDROGEN INSENSITIVITY, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, TARP SYNDROME, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, 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, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

ACTA1, AIP, SOX9, PSMC3IP, CHD7, WNT5A, TBX15, SOX2, GJA1, AXIN2, SHOC2, SUFU, SMAD4, TRIP11, DVL3, NR5A1, UBA1, IKBKG, GLI3, NOTCH1, LMX1B, ARL2BP, HDAC6, GRIP1, TBX3, GDF2, TUBB, PLOD3, ESR1, RAPSN, TAF6, ASXL1, KDM1A, ROR2, TBX5, CDC6, LZTR1, KRAS, KDM6A, VDR, KMT2A, FGFR1, AKT2, VCP, WT1, MED12, RBM10, AR, PAX3, ALPL, GLIS3, HNRNPK, FMR1, GSC, TBX6, PTEN, HRAS, KCTD1, BMPER, WNT4, ZBTB16, EFNB1, ACTB, EYA1, SMAD3, TFAP2A, CREBBP, MAF, TP63, SOX10, PQBP1, RUNX2, EZH2, SF3B4, TGFBR2, SKI

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, 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, 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, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CATSHL SYNDROME, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?HYPERPROLACTINEMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MEIER-GORLIN SYNDROME 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, SECKEL SYNDROME 7, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, OPSISMODYSPLASIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, LEGIUS SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, 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, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, WARBURG MICRO SYNDROME 3, SECKEL SYNDROME 5, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, MEIER-GORLIN SYNDROME 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, FRAGILE X SYNDROME, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, BRACHYOLMIA TYPE 3, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, TARP SYNDROME, OVARIAN DYSGENESIS 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADULT SYNDROME, ESTROGEN RESISTANCE, COLE DISEASE, MEIER-GORLIN SYNDROME 1, NOONAN SYNDROME 10, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COWDEN SYNDROME 7, MENTAL RETARDATION, X-LINKED 90, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?MICROPHTHALMIA, SYNDROMIC 1, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, DIAMOND-BLACKFAN ANEMIA 1, SECKEL SYNDROME 1, LOEYS-DIETZ SYNDROME 4, SIALURIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

MARS2, WNT5A, DIS3L2, COL1A1, NAA10, NEK1, ACTB, LBR, GNAS, IKBKG, ENPP1, LEP, PIGT, TRAPPC2, UBA1, CDC6, DDR2, EIF4A3, IGHMBP2, STK11, LIPE, WT1, ERCC6, NPR2, DNM2, CDT1, PCNT, ERCC2, TGFBR2, CREBBP, GNE, DYNC2H1, SF3B4, PEX5, ACTA1, WNT7A, DVL3, GRIP1, TRPV4, KRAS, GJA1, MEGF10, MAP2K2, LZTR1, NME1, IGBP1, NOTCH1, BUB1B, FGFR1, MMP13, TAF6, AKT2, CEP152, CBL, MET, RPL11, SPRED1, RBM10, ICK, NRAS, FMR1, TGFBR1, TNFRSF1A, ABCD4, ZBTB16, TNNT2, GSC, RAB18, CHD7, RPS6KA3, TP63, VCP, SEC23B, RAB33B, MCM8, ORC4, BANF1, ALPL, DVL1, UBE2A, PEX1, TGFB2, SMAD4, RPS28, CBS, LMX1B, TPM2, HDAC6, FLNA, NIN, SOX9, BICD2, KIF1B, SNRPB, RAPSN, TUBB, ROR2, RIPK4, BIN1, INPPL1, VDR, IGF1R, MYH2, ABCC6, EZH2, POLD1, KISS1R, GATA6, TTN, RPS19, EFNB1, NF1, FGFR3, MUSK, CHRM3, RBM28, RUNX2, AIP, GLE1, CUL4B, AR, DLG3, MYH11, SEMA3A, MCM9, HNRNPK, ALDH18A1, HSD17B4, CENPE, PDHX, NAGLU, EIF2AK3, ESR1, ORC1, INSR, PTPN11, SOS1, KIF7, FGFR2, BRAF, ABCC9, MAPRE2, CRYAB, RAB40AL, CLASP1, RET, APC, PTEN, HRAS, LRP2, ATP7A, GNRH1, SMAD3, PPP1R15B, ATR, PRLR, FLNB, PTPRF, SKI

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, AYME-GRIPP SYNDROME, WEAVER SYNDROME, ?OTOFACIOCERVICAL SYNDROME 2, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NESTOR-GUILLERMO PROGERIA SYNDROME, INCONTINENTIA PIGMENTI, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, MOWAT-WILSON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, ?OSTEOGENESIS IMPERFECTA, TYPE XII, PREMATURE OVARIAN FAILURE 7, BRANCHIOOCULOFACIAL SYNDROME, CRANIOFRONTONASAL DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, NOONAN SYNDROME 10, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, KLIPPEL-FEIL SYNDROME 2, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, LOEYS-DIETZ SYNDROME 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CORNELIA DE LANGE SYNDROME 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, ROBINOW SYNDROME, AU-KLINE SYNDROME

SOX9, BANF1, EZH2, SMAD3, SOX2, LZTR1, HNRNPK, TFAP2A, AR, SP7, NR5A1, IKBKG, NOTCH1, TBX3, PAX1, KMT2A, KDM6A, WNT5A, VCP, MMP13, MED12, FEZF1, NKX3-2, GLIS3, SUFU, RET, GLI3, PTEN, EFNB1, GSC, MEOX1, SMAD4, CREBBP, MAF, ESR1, ZEB2, SOX10, TGFBR2, PAX3

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, 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, 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, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CATSHL SYNDROME, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?HYPERPROLACTINEMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MEIER-GORLIN SYNDROME 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, SECKEL SYNDROME 7, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, OPSISMODYSPLASIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, LEGIUS SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, 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, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SECKEL SYNDROME 5, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, MEIER-GORLIN SYNDROME 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, FRAGILE X SYNDROME, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, BRACHYOLMIA TYPE 3, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, TARP SYNDROME, OVARIAN DYSGENESIS 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADULT SYNDROME, ESTROGEN RESISTANCE, COLE DISEASE, MEIER-GORLIN SYNDROME 1, NOONAN SYNDROME 10, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COWDEN SYNDROME 7, MENTAL RETARDATION, X-LINKED 90, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?MICROPHTHALMIA, SYNDROMIC 1, WARBURG MICRO SYNDROME 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, DIAMOND-BLACKFAN ANEMIA 1, SECKEL SYNDROME 1, LOEYS-DIETZ SYNDROME 4, SIALURIA, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

MARS2, WNT5A, DIS3L2, COL1A1, NAA10, NEK1, ACTB, LBR, GNAS, IKBKG, ENPP1, LEP, PIGT, TRAPPC2, UBA1, CDC6, DDR2, EIF4A3, IGHMBP2, STK11, LIPE, WT1, ERCC6, NPR2, DNM2, CDT1, PCNT, ERCC2, TGFBR2, CREBBP, GNE, DYNC2H1, SF3B4, PEX5, ACTA1, WNT7A, DVL3, GRIP1, TRPV4, KRAS, GJA1, MEGF10, MAP2K2, LZTR1, NME1, IGBP1, NOTCH1, BUB1B, FGFR1, MMP13, TAF6, AKT2, CEP152, CBL, MET, RPL11, SPRED1, RBM10, ICK, NRAS, FMR1, CRYAB, TGFBR1, TNFRSF1A, ABCD4, ZBTB16, TNNT2, GSC, RAB18, CHD7, RPS6KA3, TP63, VCP, SEC23B, RAB33B, MCM8, ORC4, BANF1, ALPL, DVL1, UBE2A, PEX1, TGFB2, SMAD4, RPS28, CBS, LMX1B, TPM2, HDAC6, FLNA, NIN, SOX9, BICD2, KIF1B, SNRPB, RAPSN, TUBB, ROR2, RIPK4, BIN1, INPPL1, VDR, IGF1R, MYH2, ABCC6, EZH2, POLD1, KISS1R, GATA6, TTN, RPS19, EFNB1, NF1, FGFR3, MUSK, CHRM3, RBM28, RUNX2, AIP, GLE1, CUL4B, AR, DLG3, MYH11, SEMA3A, MCM9, HNRNPK, ALDH18A1, HSD17B4, CENPE, PDHX, NAGLU, EIF2AK3, ESR1, ORC1, INSR, PTPN11, SOS1, KIF7, FGFR2, BRAF, ABCC9, MAPRE2, OFD1, RAB40AL, CLASP1, RET, APC, PTEN, HRAS, LRP2, ATP7A, GNRH1, SMAD3, PPP1R15B, ATR, PRLR, FLNB, PTPRF, SKI

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, AYME-GRIPP SYNDROME, WEAVER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, ?OTOFACIOCERVICAL SYNDROME 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, 46,XX SEX REVERSAL, TYPE 2, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, NOONAN SYNDROME 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PRIMROSE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DENYS-DRASH SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, KLIPPEL-FEIL SYNDROME 2, LIMB-MAMMARY SYNDROME, 46XY SEX REVERSAL 3, MARFAN LIPODYSTROPHY SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LOEYS-DIETZ SYNDROME 2, ?OTOFACIOCERVICAL SYNDROME, KABUKI SYNDROME 2, LOEYS-DIETZ SYNDROME 3, CORNELIA DE LANGE SYNDROME 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, AU-KLINE SYNDROME

SOX9, BANF1, AR, CHD7, SMAD3, SOX2, ZBTB20, SUFU, SMAD4, DVL3, SP7, NR5A1, NOTCH1, PTF1A, VCP, TBX3, EYA1, ESR1, HNRNPK, PAX1, LZTR1, KMT2A, KDM6A, VDR, WNT5A, IHH, DVL1, WT1, FBN1, GLIS3, NKX3-2, EZH2, PTEN, EFNB1, GSC, MEOX1, TFAP2A, CREBBP, MAF, TP63, ZEB2, RUNX2, SOX10, TGFBR2, PAX3

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, ROBINOW SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, WEAVER SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, SPONDYLOCOSTAL DYSOSTOSIS 5, ?OTOFACIOCERVICAL SYNDROME 2, SHPRINTZEN-GOLDBERG SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NESTOR-GUILLERMO PROGERIA SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, 46,XX SEX REVERSAL, TYPE 2, SOTOS SYNDROME 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, NOONAN SYNDROME 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADULT SYNDROME, ESTROGEN RESISTANCE, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PEUTZ-JEGHERS SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, PRIMROSE SYNDROME, KLIPPEL-FEIL SYNDROME 2, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, MARSHALL-SMITH SYNDROME, 46XY SEX REVERSAL 3, ACROCAPITOFEMORAL DYSPLASIA, ?CHARGE SYNDROME, CHARGE SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, FRONTONASAL DYSPLASIA 1, CORNELIA DE LANGE SYNDROME 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, LIMB-MAMMARY SYNDROME, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

AIP, SOX9, BANF1, ACTB, CHD7, MYH11, SOX2, KDM6A, ZBTB20, SUFU, SMAD4, DVL3, SP7, NR5A1, NFIX, GNAS, PTPN11, LMX1B, RPS6KA3, GATA6, PTF1A, VCP, TBX3, BUB1B, ESR1, COL1A1, TAF6, NOTCH1, TBX5, FBN2, IHH, LZTR1, KMT2A, SOX10, HNRNPK, VDR, WNT5A, STK11, DVL1, MMP13, ALX3, WT1, AR, NKX3-2, GLIS3, GPX4, RET, TBX6, PTEN, HRAS, MEOX1, PAX1, EZH2, ZBTB16, GSC, ZEB2, SMAD3, PAX3, CREBBP, MAF, TP63, SKI, TFAP2A, RUNX2, TGFBR2, RARB

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, ATELOSTEOGENESIS, TYPE I, TARP SYNDROME, DONNAI-BARROW SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 19, CATSHL SYNDROME, METATROPIC DYSPLASIA, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, FRASER SYNDROME, ?HYPERPROLACTINEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VIII, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, ?OTOFACIOCERVICAL SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NOONAN SYNDROME 4, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, LEOPARD SYNDROME 1, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, 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, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, SECKEL SYNDROME 1, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SECKEL SYNDROME 7, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, LUJAN-FRYNS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, FRANK-TER HAAR SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEIER-GORLIN SYNDROME 4, SCLEROSTEOSIS 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, SECKEL SYNDROME 5, INCONTINENTIA PIGMENTI, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, VAN DEN ENDE-GUPTA SYNDROME, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JOHANSON-BLIZZARD SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, LEGIUS SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, NESTOR-GUILLERMO PROGERIA SYNDROME, NAIL-PATELLA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, SCLEROSTEOSIS 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ALAGILLE SYNDROME, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MICROPHTHALMIA, SYNDROMIC 1, OSTEOGENESIS IMPERFECTA, TYPE XIII, 46XY SEX REVERSAL 3, ANDERSEN SYNDROME, PERLMAN SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, FRAGILE X SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, ROBINOW SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, BRACHYOLMIA TYPE 3, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 46,XX SEX REVERSAL, TYPE 2, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, STICKLER SYNDROME, TYPE I, OVARIAN DYSGENESIS 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, COLE DISEASE, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MEIER-GORLIN SYNDROME 1, NOONAN SYNDROME 10, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, OSTEOGENESIS IMPERFECTA, TYPE XV, COWDEN SYNDROME 7, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, EXOSTOSES, MULTIPLE, TYPE 2, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, WARBURG MICRO SYNDROME 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, LOEYS-DIETZ SYNDROME 4, SIALURIA, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME