CHEST

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, ROBINOW SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, OLIGODONTIA-COLORECTAL CANCER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, FOCAL DERMAL HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, LOEYS-DIETZ SYNDROME 3, WEAVER SYNDROME, MELNICK-NEEDLES SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CARDIOFACIOCUTANEOUS SYNDROME, DENYS-DRASH SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XV, CONGENITAL DIAPHRAGMATIC HERNIA, ACROCAPITOFEMORAL DYSPLASIA, 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, ?TETRA-AMELIA SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ULNAR-MAMMARY SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, SERKAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PALLISTER-HALL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SADDAN, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

FGFR2, FSHB, TGFBR1, FLNA, FGFR3, KRAS, AXIN2, NRAS, MAP2K2, SMAD4, DVL3, WNT3, WNT5A, NOTCH1, DVL1, TBX3, FGFR1, EDA, ROR2, AKT2, SOX2, VDR, KMT2A, IHH, IGF1R, LIFR, WT1, WNT1, EZH2, GLI3, APC, PTEN, HRAS, COL1A2, WNT4, EFNB1, PORCN, MUSK, SMAD3, PAX3, CREBBP, ESR1, WNT7A, RUNX2, SF3B4, GSC

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, ROBINOW SYNDROME, FOCAL DERMAL HYPOPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OSTEOGENESIS IMPERFECTA, TYPE XV, BANNAYAN-RILEY-RUVALCABA SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, SERKAL SYNDROME, PALLISTER-HALL SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, DONNAI-BARROW SYNDROME, ?TETRA-AMELIA SYNDROME

PTCH1, LRP2, LRP5, PTCH2, WNT4, WNT7A, WNT1, GLI3, EDA, PTEN, SUFU, IHH, GSC, WNT3, WNT5A, PORCN, RUNX2, ROR2

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, OSTEOGLOPHONIC DYSPLASIA, 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, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PEUTZ-JEGHERS SYNDROME, ANDROGEN INSENSITIVITY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, WAARDENBURG SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, LOEYS-DIETZ SYNDROME 3, CORNELIA DE LANGE SYNDROME 1, MEIER-GORLIN SYNDROME 5, LEOPARD SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME

NRAS, TGFB2, KMT2A, MAP2K2, SMAD4, AR, NOTCH1, TGFB3, FGFR1, INSR, PTPN11, AKT2, CDC6, KRAS, G6PC3, HNRNPK, STK11, IGF1R, CRYAB, ICK, TGFBR1, SOS1, HRAS, TGFBR2, SMAD3, PAX3, CREBBP, ESR1, BRAF, PTEN

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 2, CARDIOFACIOCUTANEOUS SYNDROME, ATELOSTEOGENESIS, TYPE I, LEOPARD SYNDROME 3, INCONTINENTIA PIGMENTI, ESTROGEN RESISTANCE, LOEYS-DIETZ SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LOEYS-DIETZ SYNDROME 4, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, LARSEN SYNDROME, LOEYS-DIETZ SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

TGFB3, AKT2, TGFB2, TGFBR2, SMAD3, ESR1, CREBBP, BRAF, SMAD4, TGFBR1, FLNB, IKBKG, KRAS, HRAS

ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, BANNAYAN-RILEY-RUVALCABA SYNDROME, LEOPARD SYNDROME 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LEPRECHAUNISM, MYHRE SYNDROME, LOEYS-DIETZ SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

NRAS, BRAF, SMAD3, PTEN, AXIN2, SMAD4, MAP2K2, ESR1, AKT2, SOS1, APC, KRAS, HRAS, INSR

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 2, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ESTROGEN RESISTANCE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, RUBINSTEIN-TAYBI SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LOEYS-DIETZ SYNDROME 4, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MYHRE SYNDROME, LOEYS-DIETZ SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5

TGFB3, AKT2, TGFB2, SMAD3, TGFBR2, AXIN2, ESR1, CRYAB, BRAF, SMAD4, CREBBP, TGFBR1, HDAC6, APC, KRAS, HRAS

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, CARDIOFACIOCUTANEOUS SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, LEOPARD SYNDROME 3, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, LEOPARD SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LOEYS-DIETZ SYNDROME 4, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CONGENITAL DIAPHRAGMATIC HERNIA, LOEYS-DIETZ SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}

NRAS, TGFB3, IGF1R, TGFB2, MET, KRAS, SMAD3, CREBBP, CRYAB, TGFBR1, BRAF, MAP2K2, AKT2, SOS1, PTPN11, HRAS

?OTOFACIOCERVICAL SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, ESTROGEN RESISTANCE, MULTIPLE ENDOCRINE NEOPLASIA IIB, LEOPARD SYNDROME 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYHRE SYNDROME, LOEYS-DIETZ SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

NRAS, BRAF, EYA1, SMAD3, SMAD4, MAP2K2, ESR1, RET, KRAS, HRAS

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, OLIGODONTIA-COLORECTAL CANCER SYNDROME, FOCAL DERMAL HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, CONGENITAL DIAPHRAGMATIC HERNIA, PALLISTER-HALL SYNDROME, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?TETRA-AMELIA SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SERKAL SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, ROBINOW SYNDROME

PTCH1, WNT7A, WNT5A, AXIN2, SUFU, PAX3, DVL3, WNT3, GLI3, EDA, MUSK, PTCH2, DVL1, WNT1, IHH, TBX6, APC, PTEN, ROR2, WNT4, SMAD4, RUNX2, PORCN, GSC

OSTEOGLOPHONIC DYSPLASIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, INCONTINENTIA PIGMENTI, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CARDIOFACIOCUTANEOUS SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, LOEYS-DIETZ SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

FGFR2, NRAS, AKT2, IGF1R, CBL, FGFR1, PTEN, SMAD3, SMAD4, CREBBP, BRAF, MAP2K2, ESR1, NOTCH1, AR, SOS1, IKBKG, KRAS, HRAS, INSR

LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, STICKLER SYNDROME, TYPE I, 46,XX SEX REVERSAL, TYPE 2, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SED CONGENITA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FIBROCHONDROGENESIS 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL

COL1A1, COL1A2, SOX9, COL2A1, FLNA, COL11A1, COL11A2, ITGA3, AR, COL5A1, SERPINH1, HSPG2, DDR2, SOX10, TGFBR1, COL3A1, RUNX2, AGRN, COL5A2

LYSYL HYDROXYLASE 3 DEFICIENCY, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, EXOSTOSES, MULTIPLE, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, PETERS-PLUS SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MANNOSIDOSIS, ALPHA-, TYPES I AND II, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NESTOR-GUILLERMO PROGERIA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), OSTEOGENESIS IMPERFECTA, TYPE II, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, CHIME SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SPONDYLOOCULAR SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, OSTEOGLOPHONIC DYSPLASIA, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, 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, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IVA, EXOSTOSES, MULTIPLE, TYPE 1, FUCOSIDOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, LOEYS-DIETZ SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

CHST3, BANF1, B4GALT7, TGFB2, FGFR1, KRAS, COL1A1, XYLT2, EXT1, GPC3, FUCA1, PIGL, GNS, B3GAT3, NOTCH1, GLB1, NAGLU, B3GLCT, XYLT1, PLOD3, HS6ST1, MGAT2, ALG11, HRAS, SOX10, PIGT, MAN2B1, MET, DPAGT1, ALG2, GALNS, ARSB, GUSB, PIGN, B3GALT6, HSPG2, EXT2, VCP, IDUA, HGSNAT, CHST14

LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LEPRECHAUNISM, LARSEN SYNDROME, GREENBERG SKELETAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, ATELOSTEOGENESIS, TYPE I, ?DYSTONIA, JUVENILE-ONSET, OSTEOGENESIS IMPERFECTA, TYPE II, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, 46,XX SEX REVERSAL, TYPE 2, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE III, FIBROCHONDROGENESIS 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

SOX9, ACTB, FLNA, MYH11, BIN1, COL1A1, SERPINH1, COL5A2, LBR, IGBP1, COL3A1, COL11A1, COL11A2, ESR1, COL5A1, INSR, NOTCH1, AKT2, SOS1, GJA1, SOX10, CBL, BRAF, IGF1R, MET, ITGA3, TGFBR1, COL1A2, PTEN, HRAS, LRP2, EFNB1, MUSK, SMAD3, HSPG2, TNNT2, NEB, DDR2, COL2A1, FLNB, TGFBR2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, SADDAN, COFFIN-LOWRY SYNDROME, BOHRING-OPITZ SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, SECKEL SYNDROME 1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?TETRA-AMELIA SYNDROME, OPSISMODYSPLASIA, 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, SERKAL SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, ALAGILLE SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MICROPHTHALMIA, SYNDROMIC 1, WAARDENBURG SYNDROME, TYPE 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, ANDROGEN INSENSITIVITY, 46,XX SEX REVERSAL, TYPE 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, STICKLER SYNDROME, TYPE I, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ULNAR-MAMMARY SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

FSHB, EZH2, PLOD3, KMT2A, COL1A1, NAA10, ACTB, LBR, IGBP1, IKBKG, COL3A1, TBX3, COL11A2, COL5A1, KDM1A, CDC6, GJA1, SOX10, NOG, ITGA3, DNM2, SERPINH1, JAG1, EMD, WNT4, CREBBP, COL2A1, SF3B4, PTEN, ACTA1, WNT7A, TGFB2, TRPV4, KRAS, AXIN2, MAP2K2, LZTR1, AR, GNAS, NOTCH1, FGFR1, EDA, MMP13, COL1A2, AKT2, CBL, MET, CRYAB, TGFBR1, ROR2, NOTCH3, TNNT2, GSC, RPS6KA3, BRAF, ALPL, DDR2, SOX9, SMAD4, DVL3, FLNA, RAPSN, TUBB, TBX5, SOX2, INPPL1, VDR, WNT5A, IGF1R, FBN1, IHH, GLI3, KISS1R, EFNB1, MYH2, FGFR3, MUSK, RUNX2, EYA1, NRAS, DLG3, MYH11, BIN1, HNRNPK, PAX3, ASXL1, WNT3, PTPN11, GATA6, DVL1, COL11A1, NEB, INSR, COL5A2, SOS1, FGFR2, LRP5, WT1, LIFR, WNT1, RET, TBX6, APC, HRAS, LRP2, GNRH1, PORCN, SMAD3, ATR, HSPG2, ESR1, TGFBR2, FLNB, PTPRF

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, OTOPALATODIGITAL SYNDROME, TYPE I, ?DYSTONIA, JUVENILE-ONSET, OSTEOGENESIS IMPERFECTA, TYPE II, SMED STRUDWICK TYPE, PEUTZ-JEGHERS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, SPONDYLOPERIPHERAL DYSPLASIA, LOEYS-DIETZ SYNDROME 4, RESTRICTIVE DERMOPATHY, LETHAL, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, CONGENITAL DIAPHRAGMATIC HERNIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MANDIBULOACRAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

TPM2, TGFB3, TTN, FLNA, EMD, ITGA3, ACTB, MYH11, LMNA, SGCB, TNNT2, CRYAB, TGFBR1, TGFB2, DES, STK11, IGBP1, BIN1, COL2A1, COL1A2

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, 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, OTOPALATODIGITAL SYNDROME, TYPE II, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SMED STRUDWICK TYPE, ?DYSTONIA, JUVENILE-ONSET, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, SPONDYLOPERIPHERAL DYSPLASIA, LOEYS-DIETZ SYNDROME 4, RESTRICTIVE DERMOPATHY, LETHAL, STICKLER SYNDROME, TYPE I, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, CONGENITAL DIAPHRAGMATIC HERNIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MANDIBULOACRAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

LMNA, FLNA, BIN1, ACTB, GNAS, IGBP1, COL1A2, TPM2, TGFB3, TGFB2, PTPN11, SOS1, ITGA3, SGCB, TGFBR1, DES, TTN, EMD, MYH11, TNNT2, NEB, COL2A1

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LOEYS-DIETZ SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MULTIPLE FIBROADENOMAS OF THE BREAST, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, THANATOPHORIC DYSPLASIA, TYPE II, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, OSTEOGLOPHONIC DYSPLASIA, FRASER SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, INCONTINENTIA PIGMENTI, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SECKEL SYNDROME 1, ANDROGEN INSENSITIVITY, THANATOPHORIC DYSPLASIA, TYPE I, PERIODIC FEVER, FAMILIAL, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, LATERAL MENINGOCELE SYNDROME, CRANIOFRONTONASAL DYSPLASIA, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?DYSTONIA, JUVENILE-ONSET, MELNICK-NEEDLES SYNDROME, CATSHL SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BOHRING-OPITZ SYNDROME, PYCNODYSOSTOSIS, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS-NOONAN SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, 46,XX SEX REVERSAL, TYPE 2, ?CHARGE SYNDROME, CHARGE SYNDROME, ?HYPERPROLACTINEMIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, LOEYS-DIETZ SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SADDAN, LEOPARD SYNDROME 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, SOX9, CTSK, TGFB2, KRAS, NRAS, COL1A1, CREBBP, ASXL1, SEMA3E, IKBKG, GNAS, NOTCH1, FLNA, GATA6, GRIP1, FGFR1, PRLR, MET, LEP, HRAS, AKT2, TNFRSF11B, SEMA3A, EIF4A3, SOS1, FGFR2, UBA1, IGF1R, CBL, FMR1, CRYAB, TGFBR1, GSC, PTEN, AR, BMPER, NOTCH3, EFNB1, ACTB, NF1, FGFR3, ATR, TNFRSF1A, ESR1, PTPN11, TGFBR2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LOEYS-DIETZ SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE II, MARFAN LIPODYSTROPHY SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, FOCAL DERMAL HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, ADULT SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DENYS-DRASH SYNDROME, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE XV, LIMB-MAMMARY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, PALLISTER-HALL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MULTIPLE SYNOSTOSES SYNDROME 1, ?TETRA-AMELIA SYNDROME, LOEYS-DIETZ SYNDROME 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MENTAL RETARDATION, X-LINKED 90, SERKAL SYNDROME, HAY-WELLS SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, ACROCAPITOFEMORAL DYSPLASIA, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT

ACTA1, SOX9, IHH, TGFB2, SOX2, AXIN2, WNT7A, COL1A1, SMAD4, DVL3, GDF6, GLI3, NOTCH1, TGFB3, DLG3, FGFR1, ESR1, EDA, KIF1B, COL1A2, FLNA, WNT5A, DVL1, NOG, WT1, FBN1, LRP5, WNT1, TGFBR1, GSC, TBX6, APC, PTEN, ROR2, BMPER, WNT4, GNRH1, ACTB, MUSK, SMAD3, PAX3, TP63, COL2A1, RUNX2, PORCN, TGFBR2, WNT3

LOEYS-DIETZ SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, FIBROCHONDROGENESIS 2, LOEYS-DIETZ SYNDROME 5, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, 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, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SMED STRUDWICK TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PYCNODYSOSTOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, OSTEOGENESIS IMPERFECTA, TYPE III, FIBROCHONDROGENESIS 1

ACTA1, SOX9, TGFB2, GJA1, COL1A1, CTSK, GNAS, COL5A2, HSPG2, TGFB3, COL11A1, COL11A2, COL5A1, LEP, COL3A1, SOS1, DDR2, SOX10, CRYAB, PROK2, TGFBR1, COL1A2, HRAS, LRP2, MAF, COL2A1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, AYME-GRIPP SYNDROME, ROBINOW SYNDROME, OSTEOGLOPHONIC DYSPLASIA, WEAVER SYNDROME, PALLISTER-HALL SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SECKEL SYNDROME 1, PERIODIC FEVER, FAMILIAL, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, FOCAL DERMAL HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ADULT SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, BENT BONE DYSPLASIA SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LOEYS-DIETZ SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE XV, LIMB-MAMMARY SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, ACROCAPITOFEMORAL DYSPLASIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MULTIPLE SYNOSTOSES SYNDROME 1, ?TETRA-AMELIA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LOEYS-DIETZ SYNDROME 3, CORNELIA DE LANGE SYNDROME 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HOLT-ORAM SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEOPARD SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME

ACTA1, NRAS, IHH, TGFB2, TNFRSF1A, WNT5A, AXIN2, CBL, COL1A1, SMAD4, CREBBP, DVL3, WNT3, IKBKG, GNAS, NOTCH1, MAF, GATA6, TGFB3, FLNA, TAF6, BUB1B, APC, FGFR1, INSR, EDA, LEP, ROR2, TBX5, WNT7A, SOS1, KRAS, ESR1, FGFR2, AKT2, DVL1, NOG, WNT1, TGFBR1, GSC, GLI3, POLD1, PTEN, HRAS, COL1A2, EZH2, WNT4, ACTB, MUSK, SMAD3, PAX3, ATR, HSPG2, TP63, COL2A1, PTPN11, RUNX2, PORCN, TGFBR2

LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, PERIODIC FEVER, FAMILIAL, THANATOPHORIC DYSPLASIA, TYPE I, GREENBERG SKELETAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MICROPHTHALMIA, SYNDROMIC 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, LEOPARD SYNDROME 3, MENTAL RETARDATION, X-LINKED 90, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRONTOMETAPHYSEAL DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ACROCAPITOFEMORAL DYSPLASIA, SADDAN, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

ACTA1, NRAS, IHH, DLG3, MYH11, KRAS, CBL, MAP2K2, SMAD4, NME1, LBR, IGBP1, NOTCH1, FLNA, TBX3, LEP, FGFR1, NEB, INSR, TNFRSF1A, KISS1R, BIN1, ESR1, FGFR2, ITGA3, TGFBR1, FGFR3, APC, SOS1, HRAS, ACTB, FGD1, SMAD3, NAA10, HSPG2, CHRM3, BRAF, PTEN

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, WEAVER SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SPONDYLOCOSTAL DYSOSTOSIS 5, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, INCONTINENTIA PIGMENTI, SCLEROSTEOSIS 1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED 90, CONGENITAL DIAPHRAGMATIC HERNIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?TETRA-AMELIA SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, FOCAL DERMAL HYPOPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, SERKAL SYNDROME

WNT7A, EZH2, DLG3, WNT5A, AXIN2, PAX3, NOTCH1, DVL3, SP7, WNT3, IKBKG, SOST, GATA6, LRP5, EDA, ROR2, FLNA, SOS1, VDR, DVL1, MET, WNT1, TGFBR1, GPC3, GSC, TBX6, APC, HRAS, COL1A2, WNT4, MUSK, SMAD3, SMAD4, CREBBP, HSPG2, RUNX2, PORCN, PTEN

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, OSTEOGLOPHONIC DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE III, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

BMPER, SOX9, FGFR1, TGFB3, DVL1, TGFB2, FSHB, NOG, RUNX2, TGFBR2, SMAD3, ESR1, COL1A1, SMAD4, PTEN, CREBBP, TGFBR1, GSC, GDF6, SF3B4, GDF2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, FOCAL DERMAL HYPOPLASIA, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, 3MC SYNDROME 1, SHPRINTZEN-GOLDBERG SYNDROME, BOHRING-OPITZ SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MICROPHTHALMIA, SYNDROMIC 12, LIMB-MAMMARY SYNDROME, INCONTINENTIA PIGMENTI, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ?TETRA-AMELIA SYNDROME, OPSISMODYSPLASIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, VAN DEN ENDE-GUPTA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ABLEPHARON-MACROSTOMIA SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, 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, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, 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, WOLCOTT-RALLISON SYNDROME, SECKEL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, 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, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, 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

EZH2, PLOD3, KMT2A, COL1A1, ACTB, GNAS, IKBKG, COL1A2, TBX3, COL5A1, KDM1A, UBA1, CDC6, WNT5A, KDM6A, STK11, NOG, SCARF2, ITGA3, CLASP1, PPP1R15B, KISS1, DNM2, EFEMP2, JAG1, ERCC2, TGFBR2, CREBBP, COL2A1, SF3B4, PTEN, RARB, ACTA1, WNT7A, GRIP1, IL1RN, KRAS, SUFU, AXIN2, MAP2K2, TFAP2A, NME1, SP7, TRPV4, PIGT, NOTCH1, BUB1B, FGFR1, EDA, MET, LEP, AKT2, PTCH2, CBL, MMP13, AGRN, ICK, CRYAB, TGFBR1, TGFB3, ROR2, ZBTB16, GSC, ZEB2, RPS6KA3, TP63, VCP, BRAF, PTCH1, ORC4, GPC3, ALPL, GJA1, SOX9, TGFB2, SMAD4, DVL3, LMX1B, PTH1R, HDAC6, FLNA, RAPSN, HES7, TNFRSF1A, TBX5, SOX2, INPPL1, VDR, PCYT1A, IGF1R, FBN1, TWIST2, IHH, GLI3, NOTCH3, EFNB1, NF1, FGFR3, MUSK, MAF, CHRM3, SOX10, RUNX2, EYA1, NRAS, AR, DLG3, MYH11, BIN1, MASP1, HNRNPK, PAX3, ASXL1, NR5A1, WNT3, PTPN11, GATA6, DVL1, EIF2AK3, INSR, SOS1, FGFR2, LRP5, WT1, RPL11, PDHX, WNT1, RET, TBX6, APC, HRAS, LRP2, WNT4, GNRH1, SMAD3, ATR, HSPG2, ESR1, SKI, FLNB, PORCN, HPGD

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, ?OTOFACIOCERVICAL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, SADDAN, COFFIN-LOWRY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, 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, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, DENYS-DRASH SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, ?TETRA-AMELIA SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ALAGILLE SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, STICKLER SYNDROME, TYPE I, MYHRE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XV, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, 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

FGFR2, ACTA1, SOX9, TGFBR1, TGFB2, TNFRSF1A, FGFR3, SOX2, AXIN2, NRAS, MAP2K2, GSC, SMAD4, PTEN, DVL3, SP7, NR5A1, WNT5A, IKBKG, GLI3, NOTCH1, COL1A1, RPS6KA3, HDAC6, FLNA, WNT1, GJA1, FGFR1, INSR, EDA, NOG, LEP, ROR2, AKT2, WNT7A, MET, KRAS, CBL, BIN1, ZEB2, HNRNPK, VDR, KMT2A, PLOD3, IHH, BRAF, IGF1R, PTCH2, MMP13, WT1, ITGA3, AR, CRYAB, LRP5, WNT4, DVL1, SUFU, RET, PTCH1, TGFB3, TBX6, APC, SOS1, HRAS, COL1A2, LRP2, EZH2, JAG1, ZBTB16, RUNX2, MUSK, SMAD3, PAX3, CREBBP, HSPG2, ESR1, TGFBR2, COL2A1, PTPN11, FLNB, PORCN, EYA1, RARB, WNT3

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, 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, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PERIODIC FEVER, FAMILIAL, 46,XX SEX REVERSAL, TYPE 2, RESTRICTIVE DERMOPATHY, LETHAL, ?DYSTONIA, JUVENILE-ONSET, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, ADULT SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, LOEYS-DIETZ SYNDROME 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LIMB-MAMMARY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, OTOPALATODIGITAL SYNDROME, TYPE I, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MALOUF SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MANDIBULOACRAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

SOX9, TGFB2, SMAD3, BIN1, LMNA, SMAD4, ACTB, IGBP1, GNAS, PTPN11, TPM2, TGFB3, FLNA, NEB, LEP, TNFRSF1A, SOS1, GJA1, ESR1, CBL, STK11, ITGA3, SGCB, CRYAB, TGFBR1, DES, COL1A2, HRAS, TTN, EMD, PTEN, MYH11, CREBBP, TNNT2, TP63, COL2A1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, ROBINOW SYNDROME, WEAVER SYNDROME, PALLISTER-HALL SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LEPRECHAUNISM, LARSEN SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, ATELOSTEOGENESIS, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOPERIPHERAL DYSPLASIA, OSTEOGLOPHONIC DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, DENYS-DRASH SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, BARBER-SAY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LOEYS-DIETZ SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE XV, LEOPARD SYNDROME 3, SERKAL SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, ACROCAPITOFEMORAL DYSPLASIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?TETRA-AMELIA SYNDROME, ABLEPHARON-MACROSTOMIA SYNDROME, FOCAL DERMAL HYPOPLASIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, STICKLER SYNDROME, TYPE I, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEOPARD SYNDROME 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

ACTA1, PTCH1, NRAS, DNM2, TGFB2, BIN1, WNT7A, TWIST2, SMAD4, PTEN, CREBBP, DVL3, GPC3, WNT3, WNT5A, FLNA, NOTCH1, COL1A1, GATA6, IGF1R, WNT1, GJA1, FGFR1, EDA, INSR, KDM1A, HRAS, AKT2, SOS1, KRAS, CBL, IHH, BRAF, DVL1, MET, WT1, CRYAB, MAP2K2, EZH2, GSC, GLI3, RUNX2, ROR2, COL1A2, WNT4, ACTB, MUSK, PAX3, NME1, HSPG2, ESR1, COL2A1, PTPN11, FLNB, PORCN, TGFBR2

NEUROFIBROMATOSIS-NOONAN SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PEUTZ-JEGHERS SYNDROME, ANDROGEN INSENSITIVITY, THANATOPHORIC DYSPLASIA, TYPE I, MOWAT-WILSON SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, BRANCHIOOCULOFACIAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BOHRING-OPITZ SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LIMB-MAMMARY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, LATERAL MENINGOCELE SYNDROME, ?TETRA-AMELIA SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LOEYS-DIETZ SYNDROME 3, MEIER-GORLIN SYNDROME 5, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, LOEYS-DIETZ SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, SADDAN, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

NRAS, ASXL1, TGFB2, SMAD3, SOX2, MAP2K2, TFAP2A, AR, WNT3, NOTCH1, GATA6, FLNA, ESR1, CDC6, KRAS, ZEB2, WNT5A, STK11, DVL1, MET, CRYAB, HNRNPK, EZH2, APC, SOS1, HRAS, NOTCH3, NF1, FGFR3, SMAD4, CREBBP, RPS6KA3, TP63, PTEN

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, 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, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, ?OTOFACIOCERVICAL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, SADDAN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, 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, CRANIOFRONTONASAL DYSPLASIA, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, DENYS-DRASH SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, ?TETRA-AMELIA SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, STICKLER SYNDROME, TYPE I, MYHRE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XV, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

EZH2, PLOD3, WNT5A, COL1A1, GNAS, IKBKG, COL1A2, KMT2A, ZEB2, NOG, LIPE, ITGA3, WNT4, CREBBP, COL2A1, MUSK, RARB, ACTA1, WNT7A, TGFB2, TRPV4, KRAS, AXIN2, MAP2K2, AR, NOTCH1, FGFR1, EDA, MMP13, LEP, AKT2, PTCH2, CBL, MET, CRYAB, TGFBR1, TGFB3, TNFRSF1A, ZBTB16, EYA1, BRAF, PTCH1, GJA1, SOX9, SUFU, SMAD4, DVL3, HDAC6, LRP5, HES7, ROR2, SOX2, VDR, IGF1R, IHH, GLI3, EFNB1, PTEN, FGFR3, RUNX2, GSC, NRAS, FLNA, BIN1, PAX3, NR5A1, WNT3, PTPN11, DVL1, INSR, SOS1, FGFR2, WT1, RPL11, WNT1, RET, TBX6, APC, HRAS, LRP2, SMAD3, HSPG2, ESR1, TGFBR2, FLNB, PORCN

LOEYS-DIETZ SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, 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, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, THANATOPHORIC DYSPLASIA, TYPE I, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, 46,XX SEX REVERSAL, TYPE 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CATSHL SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, OTOPALATODIGITAL SYNDROME, TYPE I, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ALAGILLE SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, FRONTOMETAPHYSEAL DYSPLASIA, SADDAN, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, RET, FLNA, SMAD3, KRAS, CBL, MAP2K2, GNRH1, SMAD4, NME1, GNAS, NOTCH1, RPS6KA3, SOX9, FGFR1, INSR, LEP, PTPN11, AKT2, FGFR2, IGF1R, MET, TGFBR1, DNM2, HRAS, LRP2, JAG1, EFNB1, ACTB, MUSK, HES7, FGFR3, HSPG2, ADA, ESR1, BRAF, RUNX2, PTEN

LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ESTROGEN RESISTANCE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, PREMATURE OVARIAN FAILURE 7, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, 46XY SEX REVERSAL 3, NOONAN SYNDROME 4, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, LEPRECHAUNISM, AROMATASE EXCESS SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA

FSHB, GNAS, IGF1R, GNRH1, LIPE, LHB, INSR, NR5A1, CYP17A1, ESR1, CYP19A1, SOS1, RUNX2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, MULTIPLE FIBROADENOMAS OF THE BREAST, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DONNAI-BARROW SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, ?HYPERPROLACTINEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, LIMB-MAMMARY SYNDROME, KEUTEL SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, HAY-WELLS SYNDROME, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MARFAN LIPODYSTROPHY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, SECKEL SYNDROME 9, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, FRAGILE X SYNDROME, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, ESCOBAR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, STICKLER SYNDROME, TYPE I, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ADULT SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 90, CHONDRODYSPLASIA, BLOMSTRAND TYPE, DIAMOND-BLACKFAN ANEMIA 7, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

FSHB, TRAIP, COL1A1, CHRNG, IGBP1, COL3A1, COL11A2, COL5A1, KISS1R, GJA1, SOX10, NOG, FMR1, ITGA3, PROK2, DNM2, TGFBR2, CREBBP, COL2A1, SF3B4, PTEN, ACTA1, WNT7A, GRIP1, NME1, SP7, GNAS, NOTCH1, GNRHR, PLOD3, EDA, MET, LEP, COL1A2, LIFR, CBL, MMP13, AGRN, TGFBR1, TNFRSF1A, NOTCH3, TP63, ALPL, DDR2, SOX9, TGFB2, SMAD4, PTH1R, TGFB3, FLNA, GDF2, TUBB, CHRNA1, TNFRSF11B, IGF1R, FBN1, ZBTB16, EFNB1, MUSK, IL1RN, MAF, MGP, CHRM3, CHRND, RUNX2, AR, DLG3, MYH11, BIN1, LHB, HNRNPK, PAX3, NR5A1, PTPN11, TACR3, COL11A1, ESR1, COL5A2, SERPINH1, FGFR2, WT1, EDARADD, RPL11, RET, HRAS, LRP2, GNRH1, SMAD3, HSPG2, PRLR, PTPRF

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 2, ESTROGEN RESISTANCE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ?DYSTONIA, JUVENILE-ONSET, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEOGLOPHONIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, RUBINSTEIN-TAYBI SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MYHRE SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, LEPRECHAUNISM, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}

CREBBP, FGFR1, ACTB, IGF1R, EMD, SMAD3, TGFBR2, MYH11, ESR1, USP9X, MET, SMAD4, NOTCH1, TGFBR1, SF3B4, PTPRF, HRAS, INSR

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, FOCAL DERMAL HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XV, CONGENITAL DIAPHRAGMATIC HERNIA, OTOPALATODIGITAL SYNDROME, TYPE I, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?TETRA-AMELIA SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, SERKAL SYNDROME

SOX9, FLNA, KRAS, NRAS, MAP2K2, SMAD4, DVL3, GNAS, WNT3, COL1A2, GATA6, EDA, HRAS, GJA1, WNT5A, DVL1, WNT1, TBX6, PTEN, ROR2, WNT4, GSC, SMAD3, PAX3, CREBBP, ESR1, WNT7A, RUNX2, PORCN, MUSK

HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, ESTROGEN RESISTANCE, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, RUBINSTEIN-TAYBI SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, INCONTINENTIA PIGMENTI, MYHRE SYNDROME, LOEYS-DIETZ SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

NRAS, BRAF, ZBTB16, KRAS, SMAD3, ESR1, MAP2K2, SMAD4, CREBBP, AKT2, SOS1, IKBKG, HRAS

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 2, CARDIOFACIOCUTANEOUS SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LEOPARD SYNDROME 3, LOEYS-DIETZ SYNDROME 3, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ESTROGEN RESISTANCE, LOEYS-DIETZ SYNDROME 5, BANNAYAN-RILEY-RUVALCABA SYNDROME, RUBINSTEIN-TAYBI SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LOEYS-DIETZ SYNDROME 4, INCONTINENTIA PIGMENTI, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MYHRE SYNDROME, LEOPARD SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

NRAS, CREBBP, TGFB3, AKT2, TGFB2, CBL, TGFBR2, SMAD3, ESR1, CRYAB, BRAF, SMAD4, MAP2K2, TGFBR1, PTPN11, SOS1, KRAS, IKBKG, PTEN, HRAS

{HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EXOSTOSES, MULTIPLE, TYPE 1, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, EXOSTOSES, MULTIPLE, TYPE 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, SPONDYLOOCULAR SYNDROME, DESBUQUOIS DYSPLASIA 2

B4GALT7, HS6ST1, B3GALT6, EXT2, XYLT2, EXT1, B3GAT3, XYLT1

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, CARDIOFACIOCUTANEOUS SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SECKEL SYNDROME 1, ANDROGEN INSENSITIVITY, LATERAL MENINGOCELE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ALLAN-HERNDON-DUDLEY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LOEYS-DIETZ SYNDROME 3, SERKAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ROBINOW SYNDROME, AU-KLINE SYNDROME

NRAS, ACTB, KRAS, MAP2K2, SMAD4, ATR, DVL3, NOTCH1, HRAS, AKT2, SOS1, MED12, SLC16A2, HNRNPK, GLI3, AR, NOTCH3, WNT4, SMAD3, CREBBP, ESR1, PTEN

LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, PERIODIC FEVER, FAMILIAL, THANATOPHORIC DYSPLASIA, TYPE I, GREENBERG SKELETAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MICROPHTHALMIA, SYNDROMIC 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, LEOPARD SYNDROME 3, MENTAL RETARDATION, X-LINKED 90, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRONTOMETAPHYSEAL DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ACROCAPITOFEMORAL DYSPLASIA, SADDAN, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

ACTA1, NRAS, IHH, DLG3, MYH11, KRAS, CBL, MAP2K2, SMAD4, NME1, LBR, IGBP1, NOTCH1, FLNA, TBX3, LEP, FGFR1, NEB, INSR, TNFRSF1A, KISS1R, BIN1, ESR1, FGFR2, ITGA3, TGFBR1, FGFR3, APC, SOS1, HRAS, ACTB, FGD1, SMAD3, NAA10, HSPG2, CHRM3, BRAF, PTEN

MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY)

ARSB, GLB1, NAGLU, HSPG2, IDUA, HGSNAT, GUSB, GNS, GALNS

SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, SPONDYLOOCULAR SYNDROME, DESBUQUOIS DYSPLASIA 2

CHST3, B3GALT6, XYLT2, B4GALT7, CHST14, XYLT1, B3GAT3

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?HYPERPROLACTINEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, SADDAN, COFFIN-LOWRY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, LIMB-MAMMARY SYNDROME, OPSISMODYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, HAY-WELLS SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, LATERAL MENINGOCELE SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46,XX SEX REVERSAL, TYPE 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SMED STRUDWICK TYPE, STICKLER SYNDROME, TYPE I, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1

ACTA1, SOX9, TGFBR1, TGFB2, MYH11, SOX2, NRAS, MAP2K2, SERPINH1, SMAD4, CREBBP, COL5A2, SHOC2, SP7, IGBP1, IKBKG, NR5A1, COL3A1, INSR, COL1A1, RPS6KA3, KRAS, FLNA, COL11A1, COL11A2, PLOD3, PRLR, COL5A1, MET, LEP, NOTCH1, AKT2, WNT7A, CDC6, WNT5A, G6PC3, SOS1, ESR1, FGFR2, FGFR1, STK11, IGF1R, NOG, ITGA3, GNAS, PROK2, CBL, IHH, FGFR3, COL1A2, KISS1R, HRAS, GJA1, NOTCH3, JAG1, EFNB1, ACTB, TGFBR2, SMAD3, BIN1, HSPG2, GNRH1, TP63, DDR2, INPPL1, COL2A1, PTPN11, RUNX2, SOX10, 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, MULTIPLE FIBROADENOMAS OF THE BREAST, THANATOPHORIC DYSPLASIA, TYPE II, 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, ATELOSTEOGENESIS, TYPE I, TARP SYNDROME, FOCAL DERMAL HYPOPLASIA, 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, ?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, PYCNODYSOSTOSIS, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, 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, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, 3MC SYNDROME 1, SHPRINTZEN-GOLDBERG SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, LARSEN SYNDROME, SECKEL SYNDROME 1, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, LUJAN-FRYNS SYNDROME, BOHRING-OPITZ SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MICROPHTHALMIA, SYNDROMIC 12, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, INCONTINENTIA PIGMENTI, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ?TETRA-AMELIA SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, VAN DEN ENDE-GUPTA SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 5, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, VITAMIN D-DEPENDENT RICKETS, TYPE I, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MARFAN LIPODYSTROPHY SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ALAGILLE SYNDROME, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, FIBROCHONDROGENESIS 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, KOOLEN-DE VRIES SYNDROME, 46XY SEX REVERSAL 3, ANDERSEN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ABLEPHARON-MACROSTOMIA SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, 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, 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, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, BARBER-SAY SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, MOWAT-WILSON SYNDROME, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, PERIODIC FEVER, FAMILIAL, 46,XX SEX REVERSAL, TYPE 2, RESTRICTIVE DERMOPATHY, LETHAL, 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), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, 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, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, COFFIN-LOWRY SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, 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, AORTIC ANEURYSM, FAMILIAL THORACIC 9

TWIST2, FSHB, EZH2, TNFRSF1A, PLOD3, WNT5A, LMNA, COL1A1, ACTB, LBR, IGBP1, IKBKG, COL3A1, NKX3-2, TBX3, COL11A2, LEP, COL5A1, PIGT, TRAPPC2, KDM1A, UBA1, KISS1R, GJA1, ZEB2, NEB, KMT2A, STK11, NOG, LIPE, WT1, SGCB, BAG3, PROK2, KISS1, DNM2, DES, GSC, CDT1, PCNT, EFEMP2, JAG1, ERCC2, EMD, TGFBR2, CREBBP, COL2A1, DYNC2H1, SF3B4, NF1, RARB, ACTA1, WNT7A, DVL3, PLS3, XRCC4, KRAS, KDM6A, AXIN2, MAP2K2, LZTR1, NME1, SP7, TRPV4, GNAS, NOTCH1, BUB1B, FGFR1, EDA, MMP13, TAF6, ASXL1, COL1A2, AKT2, PTCH2, LMX1B, CBL, TBX5, MET, CRYAB, AGRN, RBM10, PTH1R, TNNT1, MPC1, FMR1, WNT1, TGFBR1, TGFB3, ATP6V0A2, ROR2, ZBTB16, TNNT2, EYA1, CLASP1, CHD7, RPS6KA3, TP63, VCP, SEC23B, SUFU, PTCH1, ORC4, BANF1, GPC3, ALPL, DDR2, SOX9, TGFB2, SERPINH1, SMAD4, SNRPB, CTSK, CBS, CYP27B1, TPM2, HDAC6, GRIP1, GDF2, CHRNA1, PQBP1, HES7, KCNJ5, RAPSN, TUBB, HRAS, FLNA, IL1RN, TNFRSF11B, RIPK4, SOX2, KANSL1, VDR, FHL1, PCYT1A, IGF1R, MASP1, MED12, MYH2, FBN1, HNRNPK, IHH, GLI3, POLD1, CDC6, TTN, NOTCH3, RPS19, EFNB1, PEX5, FGFR3, MUSK, MAF, ADA, CHRM3, EIF4A3, TFAP2A, RUNX2, COX7B, AIP, NRAS, AR, DLG3, SMAD3, BIN1, LHB, HCCS, PAX3, INPPL1, HSD17B4, NR5A1, WNT3, CENPE, GATA6, DVL1, EIF2AK3, COL11A1, PRLR, ORC1, INSR, PTPN11, SOS1, SCARF2, FGFR2, BRAF, LRP5, COL5A2, ITGA3, RPL11, PDHX, GPX4, PLOD2, ERCC6, RET, TBX6, APC, PTEN, MFAP5, LRP2, WNT4, GNRH1, PORCN, SERPINF2, MYH11, PPP1R15B, ATR, HSPG2, ESR1, HPGD, FLNB, SOX10, PTPRF, SKI

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, BASAL CELL NEVUS SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MANNOSIDOSIS, ALPHA-, TYPES I AND II, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, MUCOLIPIDOSIS III ALPHA/BETA, MYOTUBULAR MYOPATHY, X-LINKED, FOCAL DERMAL HYPOPLASIA, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), 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, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, MULTIPLE SYNOSTOSES SYNDROME 1, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, FUCOSIDOSIS, MEIER-GORLIN SYNDROME 5, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), RUBINSTEIN-TAYBI SYNDROME, SADDAN, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, COFFIN-LOWRY SYNDROME, ADULT SYNDROME, ?OTOFACIOCERVICAL SYNDROME, BOHRING-OPITZ SYNDROME, 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, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MUCOLIPIDOSIS III GAMMA, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, FRANK-TER HAAR SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MICROPHTHALMIA, SYNDROMIC 12, MEIER-GORLIN SYNDROME 4, LIMB-MAMMARY SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, ?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, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, HAY-WELLS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, NAIL-PATELLA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PREMATURE OVARIAN FAILURE 8, MARFAN LIPODYSTROPHY SYNDROME, GLYCOGEN STORAGE DISEASE II, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, ALAGILLE SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SPONDYLOPERIPHERAL DYSPLASIA, MUCOPOLYSACCHARIDOSIS VII, 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, WAARDENBURG SYNDROME, TYPE 1, CHILD SYNDROME, MEIER-GORLIN SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, WRINKLY SKIN SYNDROME, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MEIER-GORLIN SYNDROME 3, VAN MALDERGEM SYNDROME 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, ANDROGEN INSENSITIVITY, SECKEL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, RESTRICTIVE DERMOPATHY, LETHAL, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, STICKLER SYNDROME, TYPE I, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MEIER-GORLIN SYNDROME 1, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, MUCOPOLYSACCHARIDOSIS IVA, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

FSHB, FUCA1, DNM2, PLOD3, WNT5A, LMNA, COL1A1, ICK, NAA10, ACOX1, TBCE, ACTB, LBR, IGBP1, IKBKG, CDT1, COL3A1, CUL7, GUSB, COL11A2, VPS37A, KDM1A, ASXL1, NSDHL, DDR2, SOX10, KMT2A, KISS1R, STK11, MAN2B1, NOG, SCARF2, WT1, CLASP1, PROK2, KISS1, GNPTAB, DES, ALG2, PCNT, GALNS, EFEMP2, JAG1, ERCC2, EMD, TGFBR2, CREBBP, COL2A1, ATP6V0A2, SF3B4, PTEN, RARB, ACTA1, WNT7A, DVL3, PLS3, FGFR3, KRAS, AXIN2, MAP2K2, NALCN, LZTR1, NME1, SP7, GNAS, NOTCH1, BUB1B, GNS, FGFR1, EDA, MET, LEP, COL1A2, AKT2, CBL, GAA, MMP13, ADAMTS10, TNNT1, NRAS, DVL1, CRYAB, TGFBR1, TGFB3, ORC6, DYNC2H1, ROR2, ALPL, ABCD4, TBX3, ZBTB16, TNNT2, GSC, PLOD2, RPS6KA3, TP63, VCP, BRAF, PAM16, EZH2, PTCH1, ORC4, GLB1, GNPTG, GJA1, SHOC2, TGFB2, SERPINH1, SMAD4, COL5A1, CTSK, CUL4B, CBS, CTNS, LMX1B, PTH1R, HDAC6, FLNA, SOX9, USP9X, RAPSN, TUBB, TNFRSF1A, TBX5, SOX2, INPPL1, VDR, IGF1R, PEX3, MYH2, FBN1, SH3PXD2B, IHH, GLI3, POLD1, CDC6, ARSB, NOTCH3, EFNB1, PEX5, TRPV4, MUSK, CHRM3, IDUA, HGSNAT, RUNX2, EYA1, PEX1, STAG3, AR, DLG3, SMAD3, BIN1, MASP1, HNRNPK, PAX3, HSD17B4, SLC17A5, FAT4, NR5A1, PTPN11, GATA6, NAGLU, COL11A1, NEB, ORC1, INSR, COL5A2, SOS1, FMR1, FGFR2, LRP5, ITGA3, LIFR, RPL11, WNT1, FGD1, RET, TBX6, APC, HRAS, LRP2, WNT4, GNRH1, PTPRF, MYH11, ATR, HSPG2, ESR1, FLNB, PORCN, WNT3

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, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, TARP SYNDROME, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, PYCNODYSOSTOSIS, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, 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, LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, LARSEN SYNDROME, SECKEL SYNDROME 1, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, SCLEROSTEOSIS 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?TETRA-AMELIA SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, LIMB-MAMMARY SYNDROME, 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, COFFIN-LOWRY SYNDROME, SERKAL SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MARFAN LIPODYSTROPHY SYNDROME, SCLEROSTEOSIS 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MICROPHTHALMIA, SYNDROMIC 1, OSTEOGENESIS IMPERFECTA, TYPE XIII, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, LATERAL MENINGOCELE SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, SPONDYLOCOSTAL DYSOSTOSIS 5, INCONTINENTIA PIGMENTI, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, PERIODIC FEVER, FAMILIAL, 46,XX SEX REVERSAL, TYPE 2, RESTRICTIVE DERMOPATHY, LETHAL, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, STICKLER SYNDROME, TYPE I, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MOWAT-WILSON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, OLIGODONTIA-COLORECTAL CANCER 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, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 2, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, 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

FSHB, EZH2, PLOD3, IRX5, LMNA, KISS1, ICK, NAA10, ACOX1, ACTB, LBR, IGBP1, IKBKG, COL3A1, TBX3, COL11A2, EIF4A3, LEP, COL5A1, TRAPPC2, SOX2, KDM1A, UBA1, KISS1R, WNT5A, G6PC3, NEB, GDF6, STK11, NOG, LIPE, KIF1B, WT1, CLASP1, NPR2, PROK2, WNT4, DNM2, DES, SERPINH1, BMPER, JAG1, ERCC2, TGFBR2, CREBBP, COL2A1, SF3B4, NF1, ACTA1, WNT7A, HSD17B4, DVL3, GRIP1, IL1RN, KRAS, SUFU, AXIN2, MAP2K2, NME1, SP7, COL1A1, GNAS, NOTCH1, FGFR1, EDA, MET, TAF6, COL1A2, AKT2, PTCH2, AGRN, ESR1, CBL, MMP13, ABCC9, SPRED1, RBM10, TNNT1, GLIS3, CRYAB, TGFBR1, BMP1, ROR2, ZBTB16, TNNT2, GSC, RPS6KA3, TP63, KMT2A, VCP, BRAF, TGFB3, GDF2, DLL3, FGFR3, PTCH1, GPC3, ALPL, DDR2, SHOC2, TGFB2, SMAD4, CTSK, LMX1B, PTH1R, HDAC6, FLNA, GJA1, CHRNA1, TUBB, USP9X, HES7, TNFRSF1A, TBX5, TNFRSF11B, RIPK4, BIN1, INPPL1, VDR, IGF1R, FBN1, IHH, GLI3, POLD1, CDC6, NOTCH3, EFNB1, PEX5, TRPV4, MUSK, SOX9, MAF, ADA, CHRM3, ZEB2, MTM1, RUNX2, LRP4, AIP, NRAS, AR, DLG3, SMAD3, SEMA3A, LHB, HNRNPK, PAX3, COL5A2, NR5A1, WNT3, PTPN11, GATA6, DVL1, EIF2AK3, COL11A1, EXT2, INSR, SOST, SOS1, FMR1, FGFR2, LRP5, ITGA3, LIFR, RPL11, PDHX, WNT1, PLOD2, RET, TBX6, APC, PTEN, HRAS, LRP2, TACR3, GNRH1, PTPRF, MYH11, BAG3, ATR, HSPG2, PRLR, FLNB, SOX10, PORCN

LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, LOEYS-DIETZ SYNDROME 5, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ROBINOW SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, 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, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, THANATOPHORIC DYSPLASIA, TYPE I, OTOPALATODIGITAL SYNDROME, TYPE I, ATELOSTEOGENESIS, TYPE I, HAY-WELLS SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE XII, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, LIMB-MAMMARY SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MALOUF SYNDROME, LOEYS-DIETZ SYNDROME 3, MANDIBULOACRAL DYSPLASIA, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, SADDAN, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, TGFB2, FGFR3, SOX2, LMNA, MAP2K2, SMAD4, PTEN, DVL3, SP7, WNT5A, IKBKG, NOTCH1, INSR, TGFB3, FLNA, GJA1, FGFR1, ESR1, LEP, TNFRSF1A, TBX5, SOS1, KRAS, HNRNPK, FGFR2, AKT2, RPL11, CRYAB, ICK, TGFBR1, RUNX2, HRAS, GNRH1, NF1, HES7, SMAD3, CREBBP, RPS6KA3, TP63, BRAF, FLNB, TGFBR2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, 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, BASAL CELL NEVUS SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, 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, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, TARP SYNDROME, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, PYCNODYSOSTOSIS, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, SECKEL SYNDROME 9, NEMALINE MYOPATHY 5, AMISH TYPE, FRASER SYNDROME, ?HYPERPROLACTINEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, SECKEL SYNDROME 1, LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, 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, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, SCLEROSTEOSIS 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ?TETRA-AMELIA SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, KEUTEL SYNDROME, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, SERKAL SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, DIAMOND-BLACKFAN ANEMIA 7, SCLEROSTEOSIS 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, ALAGILLE SYNDROME, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MICROPHTHALMIA, SYNDROMIC 1, OSTEOGENESIS IMPERFECTA, TYPE XIII, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, LATERAL MENINGOCELE SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNELIA DE LANGE SYNDROME 1, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, SPONDYLOCOSTAL DYSOSTOSIS 5, INCONTINENTIA PIGMENTI, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, ESCOBAR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, RESTRICTIVE DERMOPATHY, LETHAL, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, 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, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MOWAT-WILSON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, HAMAMY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 2, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, 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

FSHB, EZH2, PLOD3, IRX5, TRAIP, LMNA, KISS1, ICK, NAA10, ACOX1, ACTB, LBR, IGBP1, IKBKG, COL3A1, TBX3, COL11A2, EIF4A3, LEP, COL5A1, TRAPPC2, SOX2, KDM1A, UBA1, KISS1R, BMP1, G6PC3, NEB, GDF6, STK11, NOG, LIPE, WT1, CLASP1, BAG3, PROK2, WNT4, DNM2, DES, SERPINH1, BMPER, JAG1, ERCC2, AGRN, TGFBR2, CREBBP, COL2A1, CHRNG, SF3B4, PEX5, ACTA1, WNT7A, HSD17B4, DVL3, GRIP1, IL1RN, KRAS, SUFU, AXIN2, ABCC6, ADA, NME1, SP7, COL1A1, GNAS, NOTCH1, GNRHR, FGFR1, EDA, MET, TAF6, COL1A2, AKT2, PTCH2, EDARADD, ESR1, CBL, CHRND, MMP13, RPL11, SPRED1, RBM10, TNNT1, NRAS, GLIS3, CRYAB, TGFBR1, FGFR3, ROR2, ABCD4, ZBTB16, TNNT2, GSC, RPS6KA3, TP63, KMT2A, VCP, BRAF, TGFB3, GDF2, DLL3, PTCH1, GPC3, ALPL, DDR2, SHOC2, TGFB2, SMAD4, CTSK, LMX1B, PTH1R, HDAC6, FLNA, GJA1, CHRNA1, KIF1B, USP9X, RAPSN, TUBB, TNFRSF1A, TBX5, TNFRSF11B, RIPK4, BIN1, INPPL1, VDR, WNT5A, IGF1R, FBN1, FOXL2, IHH, GLI3, POLD1, CDC6, NOTCH3, EFNB1, NF1, TRPV4, MUSK, SOX9, MAF, GNRH1, CHRM3, ZEB2, MTM1, RUNX2, LRP4, AIP, GLE1, AR, DLG3, SMAD3, SEMA3A, LHB, HNRNPK, PAX3, COL5A2, NR5A1, WNT3, PTPN11, GATA6, DVL1, TACR3, COL11A1, EXT2, INSR, SOST, SOS1, FMR1, FGFR2, LRP5, ITGA3, LIFR, ABCC9, PDHX, WNT1, PLOD2, RET, TBX6, APC, PTEN, HRAS, LRP2, EIF2AK3, MGP, PTPRF, HES7, MYH11, NPR2, ATR, HSPG2, PRLR, FLNB, SOX10, PORCN, MAP2K2

LOEYS-DIETZ SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, 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, LEPRECHAUNISM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PEUTZ-JEGHERS SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OPSISMODYSPLASIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME

ACTA1, NRAS, TGFBR1, MYH11, KRAS, MAP2K2, NOTCH1, VCP, FGFR1, LEP, INSR, AKT2, SOS1, INPPL1, CBL, STK11, IGF1R, LIPE, HNRNPK, DNM2, HRAS, PTPRF, MUSK, SMAD3, CREBBP, ESR1, G6PC3, BRAF, SF3B4

THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, 46,XX SEX REVERSAL, TYPE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CARDIOFACIOCUTANEOUS SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SADDAN, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

FGFR2, NRAS, BRAF, IGF1R, MET, FGFR1, PTEN, FGFR3, LEP, MAP2K2, AKT2, ESR1, NOTCH1, SOX9, KRAS, HRAS, INSR

THANATOPHORIC DYSPLASIA, TYPE I, OPSISMODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CATSHL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BENT BONE DYSPLASIA SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CONGENITAL DIAPHRAGMATIC HERNIA, SADDAN, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}

NRAS, AKT2, MET, FGFR1, PTEN, FGFR3, FGFR2, MAP2K2, LEP, INPPL1, RET, KRAS, HRAS

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, MULTIPLE FIBROADENOMAS OF THE BREAST, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, ATELOSTEOGENESIS, TYPE I, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?HYPERPROLACTINEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, ?OTOFACIOCERVICAL SYNDROME, MEIER-GORLIN SYNDROME 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, COFFIN-LOWRY SYNDROME, BOHRING-OPITZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PEUTZ-JEGHERS SYNDROME, LUJAN-FRYNS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?TETRA-AMELIA SYNDROME, OPSISMODYSPLASIA, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, AROMATASE EXCESS SYNDROME, 3-M SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SED CONGENITA, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ANDERSEN SYNDROME, WAARDENBURG SYNDROME, TYPE 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, AYME-GRIPP SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, SECKEL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, 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, ALLAN-HERNDON-DUDLEY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

FSHB, EZH2, WNT5A, COL1A1, CPT2, ACOX1, ACTB, IGBP1, IKBKG, COL1A2, CDC6, G6PC3, STK11, NOG, LIPE, WT1, NPR2, KISS1, EMD, WNT4, CREBBP, COL2A1, CUL7, SF3B4, PTEN, ACTA1, WNT7A, KRAS, AXIN2, FOXL2, AR, GNAS, NOTCH1, GNRHR, BUB1B, FGFR1, EDA, LEP, AKT2, CBL, CRYAB, AGRN, ICK, NKX3-2, TGFBR1, ROR2, ZBTB16, GSC, RPS6KA3, VCP, BRAF, ALPL, GJA1, SOX9, SMAD4, DVL3, CBS, PTH1R, TGFB3, FLNA, KCNJ5, RAPSN, TUBB, TNFRSF1A, SOX2, INPPL1, VDR, IGF1R, MASP1, MED12, SLC16A2, HNRNPK, IHH, GLI3, NOTCH3, RPS19, PEX5, MUSK, MAF, CHRM3, RUNX2, EYA1, NRAS, DLG3, MYH11, SEMA3A, LHB, HCCS, PAX3, ASXL1, CYP19A1, NR5A1, WNT3, PTPN11, GATA6, DVL1, PRLR, INSR, SOS1, FMR1, LRP5, RPL11, WNT1, TBX6, KCNJ2, HRAS, LRP2, GNRH1, PTPRF, SMAD3, ATR, HSPG2, ESR1, TGFBR2, CYP17A1, FLNB, PORCN, MAP2K2