CHEST

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, PEUTZ-JEGHERS SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NEUROFIBROMATOSIS-NOONAN SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, CONGENITAL DIAPHRAGMATIC HERNIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SADDAN, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, EZH2, KRAS, CBL, MAP2K2, SMAD4, ACTB, UBE2A, NOTCH1, RPS6KA3, HDAC6, VCP, GJA1, FGFR1, INSR, LEP, PTPN11, AKT2, SOS1, SOX2, FGFR2, STK11, IGF1R, SPRED1, ICK, HNRNPK, SHOC2, PTEN, HRAS, EFNB1, NF1, HES7, FGFR3, PAX3, HSPG2, ESR1, BRAF, RUNX2, SF3B4, MUSK

LOEYS-DIETZ SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, OSTEOGENESIS IMPERFECTA, TYPE II, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MYHRE SYNDROME, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, LOEYS-DIETZ SYNDROME 5, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, MARFAN LIPODYSTROPHY SYNDROME, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, AORTIC ANEURYSM, FAMILIAL THORACIC 9, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ALAGILLE SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOGENESIS IMPERFECTA, TYPE III

LTBP4, EFEMP2, TGFB3, JAG1, TGFB2, TGFBR2, FBN1, COL1A1, SMAD4, LTBP2, COL1A2, TGFBR1, NOTCH1, BMPER, FBN2, FBLN5, MFAP5

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SPONDYLOCOSTAL DYSOSTOSIS 5, CRANIOFRONTONASAL 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, OTOPALATODIGITAL SYNDROME, TYPE II, INCONTINENTIA PIGMENTI, BENT BONE DYSPLASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, ?MYOPATHY, SCAPULOHUMEROPERONEAL, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?DYSTONIA, JUVENILE-ONSET, LEGIUS SYNDROME, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, FRONTOMETAPHYSEAL DYSPLASIA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OPSISMODYSPLASIA, LOEYS-DIETZ SYNDROME 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CONGENITAL DIAPHRAGMATIC HERNIA, SADDAN, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, NME1, FLNA, IL1RN, KRAS, CBL, MAP2K2, SMAD4, ACTB, UBE2A, SP7, WNT5A, IKBKG, PTPN11, RPS6KA3, FGFR1, HES7, LEP, NOTCH1, SOS1, GJA1, INPPL1, FGFR2, VCP, SPRED1, TNNT1, HNRNPK, SHOC2, FGFR3, APC, HRAS, EZH2, EFNB1, NF1, SMAD3, PAX3, HSPG2, GNRH1, ESR1, BRAF, RUNX2, SF3B4, MUSK

MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY)

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

BASAL CELL NEVUS SYNDROME, CRANIOECTODERMAL DYSPLASIA 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, FRASER SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NESTOR-GUILLERMO PROGERIA SYNDROME, PERIODIC FEVER, FAMILIAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ?CRANIOECTODERMAL DYSPLASIA 4, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, CONGENITAL DIAPHRAGMATIC HERNIA, PALLISTER-HALL SYNDROME, WAARDENBURG SYNDROME, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, ?AL-GAZALI-BAKALINOVA SYNDROME, ELLIS-VAN CREVELD SYNDROME, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CRANIOECTODERMAL DYSPLASIA 2, ACROCAPITOFEMORAL DYSPLASIA, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY

EVC, PTCH1, BANF1, GRIP1, TTC21B, PAX3, GNAS, CBS, IFT172, WDR19, EVC2, WDR35, VCP, KIF7, OFD1, SUFU, IHH, GLI3, RUNX2, TNFRSF1A, HSPG2, IFT140, DYNC2H1, IFT122

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, 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, SERKAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ROBINOW SYNDROME, ?TETRA-AMELIA SYNDROME

WNT5A, WNT4, WNT7A, WNT1, ROR2, COL1A1, DVL3, GSC, RUNX2, PORCN, PTEN, WNT3

MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MUCOPOLYSACCHARIDOSIS VII, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, MUCOPOLYSACCHARIDOSIS IH, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 1, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GM1-GANGLIOSIDOSIS, TYPE I, EXOSTOSES, MULTIPLE, TYPE 1, EXOSTOSES, MULTIPLE, TYPE 2

GLB1, HGSNAT, NAGLU, B4GALT7, B3GALT6, HS6ST1, MARS2, TAF6, HSPG2, EXT2, EXT1, GPC3, B3GAT3, GUSB, AGRN, IDUA

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 3, LOEYS-DIETZ SYNDROME 2, MYHRE SYNDROME

SMAD4, SMAD3, TGFBR2, TGFBR1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 5, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, AORTIC ANEURYSM, FAMILIAL THORACIC 9, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, 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, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ANDROGEN INSENSITIVITY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, 46,XX SEX REVERSAL, TYPE 2, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ALAGILLE SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, BRUCK SYNDROME 2, PYCNODYSOSTOSIS, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOPERIPHERAL DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, OSTEOGENESIS IMPERFECTA, TYPE XIII, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LEOPARD SYNDROME 3, SCLEROSTEOSIS 2, MYASTHENIC SYNDROME, CONGENITAL, 19, OTOPALATODIGITAL SYNDROME, TYPE I, MARFAN LIPODYSTROPHY SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOGENESIS IMPERFECTA, TYPE VII, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MULTIPLE SYNOSTOSES SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VIII, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, LOEYS-DIETZ SYNDROME 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, LOEYS-DIETZ SYNDROME 1, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, FIBROCHONDROGENESIS 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE

SOX9, TGFBR1, TGFB2, MYH11, FBLN5, WNT7A, COL1A1, SMAD4, NOTCH1, DVL3, WNT5A, COL3A1, AR, TGFB3, DVL1, COL11A1, COL11A2, PLOD3, MATN3, COL5A1, NOG, LEP, LTBP2, COL5A2, FLNA, FBN2, LRP4, SOX10, FGFR2, CTSK, IGF1R, CRTAP, MMP13, AGRN, ITGA3, LRP2, CRYAB, PLOD2, FBN1, DNM2, BMP1, COL1A2, SERPINH1, MFAP5, LTBP4, SERPINF2, EFEMP2, BMPER, JAG1, ZBTB16, COL13A1, MUSK, SMAD3, HSPG2, BRAF, P3H1, DDR2, TGFBR2, COL2A1, PTPN11, RUNX2, PTPRF, PTEN

BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, MYOTUBULAR MYOPATHY, X-LINKED, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, COLE-CARPENTER SYNDROME 2, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, LEOPARD SYNDROME 3, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, RUBINSTEIN-TAYBI SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SHPRINTZEN-GOLDBERG SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, AORTIC ANEURYSM, FAMILIAL THORACIC 9, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, PREMATURE OVARIAN FAILURE 7, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PEUTZ-JEGHERS SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, LUJAN-FRYNS SYNDROME, FRASER SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, YUNIS-VARON SYNDROME, OCCIPITAL HORN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LIMB-MAMMARY SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MYHRE SYNDROME, INCONTINENTIA PIGMENTI, ACHONDROGENESIS IB, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, NESTOR-GUILLERMO PROGERIA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JOHANSON-BLIZZARD SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, SOTOS SYNDROME 2, HAY-WELLS SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, AROMATASE EXCESS SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MILLER SYNDROME, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, VITAMIN D-DEPENDENT RICKETS, TYPE I, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, GLYCOGEN STORAGE DISEASE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, SED CONGENITA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, MUCOPOLYSACCHARIDOSIS VII, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, SCHNECKENBECKEN DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XIII, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, CHILD SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, 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, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, MARSHALL-SMITH SYNDROME, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SMED STRUDWICK TYPE, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, 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, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COLE DISEASE, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, EXOSTOSES, MULTIPLE, TYPE 2, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, SECKEL SYNDROME 1, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, LOEYS-DIETZ SYNDROME 4, CONGENITAL DIAPHRAGMATIC HERNIA, MUCOPOLYSACCHARIDOSIS IVA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

FSHB, MARS2, PLOD3, KMT2A, SEC24D, KISS1, CPT2, ACOX1, GAA, ACTB, LBR, GNAS, IKBKG, COL1A2, EBP, GLB1, GUSB, ENPP1, B3GALT6, PTDSS1, SOX2, PCYT1A, TSR2, NSDHL, GJA1, G6PC3, STK11, LIPE, CLASP1, PPP1R15B, COL1A1, DNM2, DES, IDUA, GALNS, JAG1, MBTPS2, EMD, TGFBR2, CREBBP, COL2A1, PTEN, CYP2R1, ACTA1, SHOC2, DVL3, GRIP1, KRAS, NME1, GPC3, NOTCH1, GNS, FGFR1, ERCC2, TAF6, LMNA, AGRN, LMX1B, CBL, HGSNAT, HS6ST1, MET, ADAMTS10, TPM2, TNNT1, HSD17B3, MPC1, GLIS3, ZMPSTE24, TGFBR1, RUNX2, TNFRSF1A, ABCD4, TNNT2, CYP21A2, RPS6KA3, TP63, VCP, FIG4, BRAF, PAM16, BANF1, B4GALT7, ALPL, DVL1, BMP1, CHST3, SUFU, SMAD4, EXT1, CHST14, CBS, UBR1, CYP27B1, ARL2BP, HDAC6, TGFB2, FBLN5, LEP, SOX9, TUBB, HRAS, SLC26A2, INPPL1, VDR, SMS, UBA1, NAGLU, MED12, HNRNPK, EZH2, POLD1, KISS1R, ARSB, NF1, MUSK, CRYAB, ADA, CHRM3, SOX10, MTM1, DHODH, GLE1, AR, LRP5, MYH11, BIN1, LHB, HCCS, PAX3, ALDH18A1, HSD17B4, CYP19A1, B3GAT3, NR5A1, PTPN11, GATA6, IGF1R, ATP7A, EXT2, SLC52A3, INSR, SOS1, SLC35D1, FGFR2, ABCC9, PDHX, GPX4, PLOD2, RET, TBX6, MFAP5, LRP2, GNRH1, COX7B, SMAD3, NFIX, ATR, HSPG2, ESR1, CYP17A1, KIF1BP, PEX5, HPGD

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, PEUTZ-JEGHERS SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NEUROFIBROMATOSIS-NOONAN SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, CONGENITAL DIAPHRAGMATIC HERNIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SADDAN, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, EZH2, KRAS, CBL, MAP2K2, SMAD4, ACTB, UBE2A, NOTCH1, RPS6KA3, HDAC6, VCP, GJA1, FGFR1, INSR, LEP, PTPN11, AKT2, SOS1, SOX2, FGFR2, STK11, IGF1R, SPRED1, ICK, HNRNPK, SHOC2, PTEN, HRAS, EFNB1, NF1, HES7, FGFR3, PAX3, HSPG2, ESR1, BRAF, RUNX2, SF3B4, MUSK

EXOSTOSES, MULTIPLE, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, 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, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?DYSTONIA, JUVENILE-ONSET, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ACHONDROGENESIS IB, EXOSTOSES, MULTIPLE, TYPE 1, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, OSTEOGENESIS IMPERFECTA, TYPE II, SIALURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

COL1A2, CHST3, DPAGT1, SLC26A2, GNE, ACTB, AGRN, EXT2, B3GAT3, HSPG2, MGAT2, PMM2, ALG11, COL1A1, EXT1, CHST14, GPC3, B4GALT7, RFT1, ALG2, NOTCH1

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, PEUTZ-JEGHERS SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NEUROFIBROMATOSIS-NOONAN SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, CONGENITAL DIAPHRAGMATIC HERNIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SADDAN, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, EZH2, KRAS, CBL, MAP2K2, SMAD4, ACTB, UBE2A, NOTCH1, RPS6KA3, HDAC6, VCP, GJA1, FGFR1, INSR, LEP, PTPN11, AKT2, SOS1, SOX2, FGFR2, STK11, IGF1R, SPRED1, ICK, HNRNPK, SHOC2, PTEN, HRAS, EFNB1, NF1, HES7, FGFR3, PAX3, HSPG2, ESR1, BRAF, RUNX2, SF3B4, MUSK

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 3, LOEYS-DIETZ SYNDROME 2, MYHRE SYNDROME

SMAD4, SMAD3, TGFBR2, TGFBR1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, SPONDYLOPERIPHERAL DYSPLASIA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 19, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, FIBROCHONDROGENESIS 2, SMED STRUDWICK TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, STICKLER SYNDROME, TYPE I, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LOEYS-DIETZ SYNDROME 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, FIBROCHONDROGENESIS 1, PYCNODYSOSTOSIS, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT

COL3A1, WNT7A, COL2A1, COL5A2, COL11A1, COL13A1, COL11A2, SMAD3, COL1A1, MMP13, NOTCH1, CTSK, COL1A2, COL5A1, DDR2, SOX10

?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, CRANIOECTODERMAL DYSPLASIA 1, ACHONDROGENESIS, TYPE IA, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, CRANIOECTODERMAL DYSPLASIA 3, CRANIOECTODERMAL DYSPLASIA 2, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, ?CRANIOECTODERMAL DYSPLASIA 4, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1

TTC21B, WDR19, WDR60, IFT80, BUB1B, WDR34, TRIP11, IFT43, CLASP1, IFT140, WDR35, IFT122, DYNC2H1, IFT172

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PREMATURE OVARIAN FAILURE 7, THANATOPHORIC DYSPLASIA, TYPE II, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, 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, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, 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, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, METATROPIC DYSPLASIA, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SECKEL SYNDROME 1, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, WRINKLY SKIN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LIMB-MAMMARY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ACHONDROGENESIS IB, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, KOOLEN-DE VRIES SYNDROME, OPSISMODYSPLASIA, DIAMOND-BLACKFAN ANEMIA 10, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, HAY-WELLS SYNDROME, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, AROMATASE EXCESS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, VITAMIN D-DEPENDENT RICKETS, TYPE I, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, GLYCOGEN STORAGE DISEASE II, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MICROPHTHALMIA, SYNDROMIC 1, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MEIER-GORLIN SYNDROME 4, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 46,XX SEX REVERSAL, TYPE 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, SMED STRUDWICK TYPE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MEIER-GORLIN SYNDROME 1, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, SCHNECKENBECKEN DYSPLASIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 2, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, SIALURIA, CONGENITAL DIAPHRAGMATIC HERNIA, MUCOPOLYSACCHARIDOSIS IVA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 9

DNM2, RPS26, WNT5A, COL1A1, NAA10, ACTB, GNAS, IKBKG, ALG2, COL3A1, GUSB, MGAT2, PMM2, LEP, VPS37A, SOX2, GJA1, IDUA, KMT2A, SLC35D1, ERCC6, PPP1R15B, MARS2, CDT1, SERPINH1, GALNS, JAG1, ERCC2, TGFBR2, CREBBP, COL2A1, ATP6V0A2, SF3B4, PTEN, CYP2R1, ACTA1, WNT7A, RPS28, GRIP1, XRCC4, KRAS, MAP2K2, LZTR1, AR, SHOC2, SP7, TRPV4, NOTCH1, BUB1B, GNS, FGFR1, CHRM3, MMP13, TAF6, ALG11, COL1A2, AKT2, CBL, GAA, MET, ABCC9, AGRN, NRAS, DVL1, TGFBR1, TNFRSF1A, ZBTB16, CYP21A2, RPS6KA3, TP63, DVL3, VCP, BANF1, DPAGT1, GLB1, UBE2A, CHST3, TGFB2, SMAD4, EXT1, CHST14, CBS, CYP27B1, PTH1R, HDAC6, CHD7, SOX9, SNRPB, RAPSN, TUBB, HRAS, TBX5, SLC26A2, KANSL1, VDR, IGF1R, FBN1, FOXL2, EZH2, POLD1, ARSB, NOTCH3, RPS19, GNE, MUSK, FGFR3, ANTXR1, AMER1, INPPL1, HGSNAT, RUNX2, GLE1, GPC3, RFT1, FLNA, HNRNPK, PAX3, ATR, CYP19A1, B3GAT3, NR5A1, PTPN11, GATA6, NAGLU, EXT2, ORC1, INSR, CENPE, SOS1, FGFR2, LRP5, RPL11, CLASP1, B4GALT7, TBX6, APC, MFAP5, LRP2, STRA6, GNRH1, SMAD3, ALDH18A1, HSPG2, ESR1, CYP17A1, PORCN, WNT3

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, PERIODIC FEVER, FAMILIAL, THANATOPHORIC DYSPLASIA, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WEAVER SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NEUROFIBROMATOSIS-NOONAN SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, LEOPARD SYNDROME 3, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, CONGENITAL DIAPHRAGMATIC HERNIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SADDAN, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, EZH2, TNFRSF1A, KRAS, CBL, MAP2K2, SMAD4, ACTB, UBE2A, NOTCH1, RPS6KA3, HDAC6, GJA1, FGFR1, INSR, LEP, PTPN11, AKT2, SOS1, SOX2, FGFR2, STK11, VCP, SPRED1, ICK, HNRNPK, SHOC2, PTEN, HRAS, EFNB1, NF1, HES7, FGFR3, PAX3, HSPG2, ESR1, BRAF, RUNX2, SF3B4, MUSK

HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 9, VITAMIN D-DEPENDENT RICKETS, TYPE I, GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DONNAI-BARROW SYNDROME, PREMATURE OVARIAN FAILURE 7, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS IH, SCHNECKENBECKEN DYSPLASIA, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), OPSISMODYSPLASIA, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, 46XY SEX REVERSAL 3, MUCOPOLYSACCHARIDOSIS IVA, AROMATASE EXCESS SYNDROME

GLB1, SMAD4, CYP19A1, NR5A1, GNS, CYP27B1, GUSB, LEP, MFAP5, INPPL1, VDR, CBL, NAGLU, SLC35D1, LRP2, GALNS, ARSB, CYP21A2, IDUA, HGSNAT, CYP17A1, CYP2R1

LOEYS-DIETZ SYNDROME 1, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, ANDROGEN INSENSITIVITY, GLYCOGEN STORAGE DISEASE II, OSTEOGENESIS IMPERFECTA, TYPE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SMED STRUDWICK TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, SPONDYLOPERIPHERAL DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, MUCOPOLYSACCHARIDOSIS VII, RESTRICTIVE DERMOPATHY, LETHAL, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), STICKLER SYNDROME, TYPE I, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, LEOPARD SYNDROME 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ACHONDROGENESIS IB, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, EXOSTOSES, MULTIPLE, TYPE 1, SED CONGENITA, EXOSTOSES, MULTIPLE, TYPE 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, LOEYS-DIETZ SYNDROME 4, MUCOPOLYSACCHARIDOSIS IVA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NESTOR-GUILLERMO PROGERIA SYNDROME

CHST3, BANF1, MARS2, TGFB2, SLC26A2, COL1A1, SMAD4, HGSNAT, EXT1, GPC3, B3GAT3, GNS, CHST14, NOTCH1, AR, GLB1, VCP, GUSB, LEP, FGFR1, EXT2, HS6ST1, INSR, GALNS, SOS1, AGRN, INPPL1, GAA, NAGLU, LIPE, LRP2, CLASP1, TGFBR1, ZMPSTE24, B4GALT7, IDUA, MFAP5, ARSB, B3GALT6, HSPG2, BRAF, TSR2, G6PC3, COL2A1

MUCOPOLYSACCHARIDOSIS IH, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, LOEYS-DIETZ SYNDROME 4, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY)

ARSB, B4GALT7, TGFB2, AGRN, CHST3, B3GAT3, HSPG2, GPC3, CHST14, B3GALT6, IDUA

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, AORTIC ANEURYSM, FAMILIAL THORACIC 9, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE II, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MYHRE SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, MARFAN LIPODYSTROPHY SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4

LTBP4, EFEMP2, TGFB3, JAG1, TGFB2, TGFBR2, FBN1, COL1A1, SMAD4, FBLN5, LTBP2, COL1A2, TGFBR1, NOTCH1, BMPER, FBN2, RUNX2, MFAP5

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, AORTIC ANEURYSM, FAMILIAL THORACIC 9, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, 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, MARFAN LIPODYSTROPHY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, 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, MYASTHENIC SYNDROME, CONGENITAL, 19, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, 46,XX SEX REVERSAL, TYPE 2, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, PYCNODYSOSTOSIS, MULTIPLE SYNOSTOSES SYNDROME 1, SED CONGENITA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, FIBROCHONDROGENESIS 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2

SOX9, AR, FLNA, BMP1, WNT7A, COL1A1, SMAD4, NOTCH1, CTSK, COL5A2, COL11A1, COL11A2, COL5A1, NOG, COL3A1, FBN2, FBLN5, SOX10, WNT5A, DVL1, MMP13, FBN1, COL1A2, MFAP5, LRP2, BMPER, COL13A1, PTEN, SMAD3, HSPG2, DDR2, COL2A1, RUNX2, PTPRF

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, SPONDYLOPERIPHERAL DYSPLASIA, LOEYS-DIETZ SYNDROME 5, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SMED STRUDWICK TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, 46,XX SEX REVERSAL, TYPE 2, STICKLER SYNDROME, TYPE I, SCLEROSTEOSIS 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LOEYS-DIETZ SYNDROME 4, ?OSTEOGENESIS IMPERFECTA, TYPE X, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT

COL3A1, LRP4, TGFB3, TGFB2, MUSK, SOX9, COL1A1, SERPINH1, MATN3, COL5A2, COL2A1, WNT7A, COL1A2, COL5A1, AGRN, SOX10

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, SIALIC ACID STORAGE DISORDER, INFANTILE, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, OSTEOGENESIS IMPERFECTA, TYPE II, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, COLE-CARPENTER SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, CONGENITAL DIAPHRAGMATIC HERNIA, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, SIALURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

COL1A2, SLC17A5, RFT1, GLB1, GNE, ACTB, SEC24D, MGAT2, COL1A1, HSPG2, MET, SMAD4, ALG11, NOTCH1, DPAGT1, DES, BANF1, ALG2, PMM2, HRAS

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, 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, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, COFFIN-LOWRY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, LUJAN-FRYNS SYNDROME, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OPSISMODYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, LYSYL HYDROXYLASE 3 DEFICIENCY, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-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, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ABLEPHARON-MACROSTOMIA SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, CORNELIA DE LANGE SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, BARBER-SAY SYNDROME, 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, STICKLER SYNDROME, TYPE I, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, PANCREATIC AND CEREBELLAR AGENESIS, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEOPARD SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

EZH2, PLOD3, WNT5A, COL1A1, ACTB, IGBP1, COL3A1, COL5A1, GJA1, SOX10, KMT2A, NOG, CLASP1, BAG3, DNM2, BMPER, JAG1, ERCC2, EMD, TGFBR2, CREBBP, COL2A1, SF3B4, MUSK, ACTA1, WNT7A, GRIP1, KRAS, MAP2K2, NME1, SHOC2, GNAS, NOTCH1, SEMA3E, PTF1A, FGFR1, LEP, COL1A2, AKT2, SPRED1, CBL, HS6ST1, MET, AGRN, TGFBR1, TNFRSF1A, GSC, BIN1, RPS6KA3, VCP, BRAF, PTCH1, ALPL, UBE2A, SOX9, SMAD4, CBS, LMX1B, HDAC6, FLNA, PQBP1, USP9X, HES7, SOX2, INPPL1, AIP, IGF1R, MED12, FBN1, TWIST2, IHH, GLI3, EFNB1, NF1, FGFR3, RUNX2, VDR, NRAS, AR, DLG3, MYH11, SEMA3A, HNRNPK, PAX3, NR5A1, PTPN11, GATA6, DVL1, INSR, COL5A2, SOS1, FGFR2, WNT1, RET, PTEN, HRAS, LRP2, IFT80, GNRH1, SMAD3, ATR, HSPG2, ESR1, PTPRF

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, BENT BONE DYSPLASIA SYNDROME, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, COLE-CARPENTER SYNDROME 2, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SHPRINTZEN-GOLDBERG 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, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, PREMATURE OVARIAN FAILURE 7, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PEUTZ-JEGHERS SYNDROME, LUJAN-FRYNS SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, LOEYS-DIETZ SYNDROME 3, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, YUNIS-VARON SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LIMB-MAMMARY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, AROMATASE EXCESS SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, VITAMIN D-DEPENDENT RICKETS, TYPE I, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XIII, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, CHILD SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, CORNELIA DE LANGE SYNDROME 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ROBINOW SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, PERIODIC FEVER, FAMILIAL, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, CONGENITAL DIAPHRAGMATIC HERNIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

ACTA1, FSHB, ACTB, HSD17B4, LRP5, ARSB, TNFRSF1A, CYP21A2, SOX2, LHB, SEC24D, HNRNPK, PAX3, SMAD4, ACOX1, CREBBP, DVL3, LBR, CYP2R1, NR5A1, CBS, NOTCH1, CYP27B1, GATA6, HDAC6, GLB1, TAF6, GJA1, TUBB, PLOD3, CHRM3, PTDSS1, COL1A1, MET, LEP, LMNA, EBP, PTPN11, PCYT1A, NSDHL, CBL, KMT2A, INPPL1, SOS1, VDR, ESR1, FGFR2, FGFR1, STK11, HS6ST1, ADAMTS10, MED12, AR, GPX4, HSD17B3, PPP1R15B, LIPE, HCCS, MARS2, DES, BMP1, PEX5, MBTPS2, HRAS, LRP2, EZH2, JAG1, KRAS, GNRH1, RUNX2, NF1, SMAD3, CPT2, NME1, CYP19A1, HSPG2, TP63, VCP, FIG4, MTM1, CYP17A1, KIF1BP, PTEN, HPGD

LOEYS-DIETZ SYNDROME 1, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, GM1-GANGLIOSIDOSIS, TYPE I, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, SMED STRUDWICK TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, SPONDYLOPERIPHERAL DYSPLASIA, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), STICKLER SYNDROME, TYPE I, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ACHONDROGENESIS IB, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, EXOSTOSES, MULTIPLE, TYPE 1, EXOSTOSES, MULTIPLE, TYPE 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, LOEYS-DIETZ SYNDROME 4, MUCOPOLYSACCHARIDOSIS IVA

CHST3, MARS2, TGFB2, SLC26A2, EXT1, GPC3, CHST14, GNS, B3GAT3, NOTCH1, GLB1, GUSB, HS6ST1, IDUA, HGSNAT, NAGLU, AGRN, ARSB, TGFBR1, B4GALT7, GALNS, LRP2, B3GALT6, HSPG2, EXT2, COL2A1

LYSYL HYDROXYLASE 3 DEFICIENCY, 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, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SMED STRUDWICK TYPE, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, BRUCK SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, OSTEOGENESIS IMPERFECTA, TYPE XIII, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, OSTEOGENESIS IMPERFECTA, TYPE VII, OSTEOGENESIS IMPERFECTA, TYPE VIII, FIBROCHONDROGENESIS 1

COL3A1, SOX9, CRTAP, COL11A1, COL11A2, PLOD3, P3H1, COL1A1, SERPINH1, COL13A1, PLOD2, SOX10, COL2A1, BMP1, COL1A2, COL5A1, DDR2, COL5A2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ?PRUNE BELLY SYNDROME, AYME-GRIPP SYNDROME, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, BASAL CELL NEVUS SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, FOCAL DERMAL HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PREMATURE OVARIAN FAILURE 7, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, SPONDYLOPERIPHERAL DYSPLASIA, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, STICKLER SYNDROME, TYPE I, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XV, ACROCAPITOFEMORAL DYSPLASIA, SERKAL SYNDROME, 46XY SEX REVERSAL 3, CHONDRODYSPLASIA, BLOMSTRAND TYPE, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?TETRA-AMELIA SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, PALLISTER-HALL SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, LEOPARD SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

ACTA1, PTCH1, FSHB, TGFB2, WNT5A, LHB, WNT7A, KISS1, SMAD4, PTEN, DVL3, NR5A1, IKBKG, WNT3, PTPN11, INSR, COL1A1, PTH1R, LRP5, GNRHR, GRIP1, FGFR1, ESR1, EDA, LEP, ROR2, FLNA, KISS1R, SOX10, VDR, CBL, DVL1, PTCH2, MMP13, GATA6, WNT1, GNAS, PROK2, WNT4, IHH, GLI3, TAC3, HRAS, TACR3, GNRH1, RUNX2, MUSK, PROKR2, MAF, CHRM3, COL2A1, KIF1BP, PORCN, GSC

SCLEROSTEOSIS 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, WEAVER SYNDROME, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE XV, SERKAL SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ROBINOW SYNDROME

LRP5, WNT4, WNT1, EZH2, WNT5A, SOST

THANATOPHORIC DYSPLASIA, TYPE I, ESTROGEN RESISTANCE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, THANATOPHORIC DYSPLASIA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, OSTEOGLOPHONIC DYSPLASIA, CATSHL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CONGENITAL DIAPHRAGMATIC HERNIA, SADDAN, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MYHRE SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

FGFR2, NRAS, LEP, FGFR1, SOX2, FGFR3, ESR1, SMAD4, PAX3, SP7, SOS1, KRAS, HRAS

MEIER-GORLIN SYNDROME 5, MEIER-GORLIN SYNDROME 3, MEIER-GORLIN SYNDROME 1, ?PREMATURE OVARIAN FAILURE 10, MEIER-GORLIN SYNDROME 2

MCM8, ORC6, CDC6, ORC4, ORC1

SCLEROSTEOSIS 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DENYS-DRASH SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XV, CONGENITAL DIAPHRAGMATIC HERNIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MULTIPLE SYNOSTOSES SYNDROME 1, ?TETRA-AMELIA SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, LOEYS-DIETZ SYNDROME 3, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, MEIER-GORLIN SYNDROME 5, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME

SOX9, AR, LRP5, SOX2, AXIN2, FOXL2, PAX3, DVL3, WNT3, GLI3, NOTCH1, HDAC6, TUBB, SOST, AKT2, CDC6, RSPO1, WNT5A, DVL1, NOG, WT1, WNT1, EZH2, TBX6, APC, PTEN, ROR2, WNT4, MUSK, SMAD3, CREBBP, ESR1, AMER1, RUNX2, GSC

SPONDYLOPERIPHERAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, STICKLER SYNDROME, TYPE I, LOEYS-DIETZ SYNDROME 3, FIBROCHONDROGENESIS 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SMED STRUDWICK TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, FIBROCHONDROGENESIS 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, SED CONGENITA, LEOPARD SYNDROME 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT

COL1A1, COL1A2, COL2A1, COL11A1, AGRN, SMAD3, COL5A1, HSPG2, PTPN11, COL5A2, COL3A1, DDR2, COL11A2, SOX10

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ROBINOW SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE XII, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, LOEYS-DIETZ SYNDROME 1, SHPRINTZEN-GOLDBERG SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, THANATOPHORIC DYSPLASIA, TYPE I, ?MYOPATHY, SCAPULOHUMEROPERONEAL, 46,XX SEX REVERSAL, TYPE 2, RUBINSTEIN-TAYBI SYNDROME, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, LATERAL MENINGOCELE SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ADULT SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LOEYS-DIETZ SYNDROME 2, LIMB-MAMMARY SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, OTOPALATODIGITAL SYNDROME, TYPE I, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, FRONTOMETAPHYSEAL DYSPLASIA, ?TETRA-AMELIA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, LOEYS-DIETZ SYNDROME 3, ALAGILLE SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BENT BONE DYSPLASIA SYNDROME, HAY-WELLS SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MEIER-GORLIN SYNDROME 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SADDAN, LEOPARD SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, EZH2, LRP5, TNFRSF1A, FGFR3, SOX2, SOX9, SMAD4, SHOC2, SP7, WNT3, WNT5A, IKBKG, FLNA, NOTCH1, INSR, RPS6KA3, HDAC6, GRIP1, BUB1B, GJA1, FGFR1, ESR1, RAPSN, NOTCH3, LEP, PTPN11, TBX5, KRAS, UBE2A, FGFR2, AKT2, VCP, MET, CBL, TGFBR1, CDT1, APC, SOS1, HRAS, LRP2, STRA6, JAG1, ZBTB16, TGFBR2, SMAD3, PAX3, CREBBP, HSPG2, TP63, AMER1, WNT7A, CYP17A1, RUNX2, PORCN, PTEN, SKI

SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, EXOSTOSES, MULTIPLE, TYPE 1, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS IB, EXOSTOSES, MULTIPLE, TYPE 2

CHST3, GPC3, B4GALT7, AGRN, HSPG2, EXT2, EXT1, CHST14, B3GAT3, SLC26A2, NOTCH1

MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS IH, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GM1-GANGLIOSIDOSIS, TYPE I

NAGLU, GLB1, AGRN, HSPG2, HGSNAT, GPC3, GUSB, IDUA

MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS IH, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY)

ARSB, NAGLU, GLB1, SMAD4, IDUA, HGSNAT, GUSB, GNS, GALNS

MULTIPLE FIBROADENOMAS OF THE BREAST, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, 3-M SYNDROME 1, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, COLE-CARPENTER SYNDROME 2, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?HYPERPROLACTINEMIA, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, PETERS-PLUS SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, 3MC SYNDROME 1, 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, AORTIC ANEURYSM, FAMILIAL THORACIC 9, LEPRECHAUNISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERIODIC FEVER, FAMILIAL, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PREMATURE OVARIAN FAILURE 7, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, DENYS-DRASH SYNDROME, LIMB-MAMMARY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, CHIME SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, DIAMOND-BLACKFAN ANEMIA 10, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HAY-WELLS SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, MARFAN LIPODYSTROPHY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, NOONAN SYNDROME 10, ALAGILLE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, PERLMAN SYNDROME, CORNELIA DE LANGE SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, NESTOR-GUILLERMO PROGERIA SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SIALIC ACID STORAGE DISORDER, INFANTILE, ANDROGEN INSENSITIVITY, DIAMOND-BLACKFAN ANEMIA 1, WOLCOTT-RALLISON SYNDROME, SECKEL SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ADULT SYNDROME, MENTAL RETARDATION, X-LINKED 90, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, GELEOPHYSIC DYSPLASIA 1, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, EXOSTOSES, MULTIPLE, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SIALURIA, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

FSHB, RPS26, LMNA, COL1A1, ACTB, GNAS, IKBKG, COL1A2, B3GLCT, MGAT2, TP63, PMM2, LEP, CDC6, SOX10, SLC17A5, WT1, DES, ALG2, PIGL, ERCC2, JAG1, CREBBP, CUL7, SF3B4, SEC24D, ACTA1, SHOC2, EXT1, KRAS, AXIN2, LZTR1, AR, PIGT, NOTCH1, PLOD3, TAF6, ALG11, AKT2, CBL, MET, ADAMTS10, TGFBR1, MBTPS2, TNFRSF1A, ZBTB16, RPS6KA3, ADAMTSL2, BRAF, PAM16, DIS3L2, BANF1, GLB1, GJA1, SMAD4, RPS28, CBS, FLNA, MFAP5, VDR, EXT2, MASP1, FBN1, EZH2, KISS1R, ARSB, NOTCH3, RPS19, GNE, PTEN, XRCC4, RUNX2, GLE1, PIGN, DLG3, SMAD3, BIN1, LHB, HNRNPK, ASXL1, NR5A1, RFT1, PTPN11, EIF2AK3, ESR1, TBCE, INSR, CENPE, SOS1, FGFR2, RPL11, CRYAB, DPAGT1, TBX6, APC, HRAS, GNRH1, SERPINF2, MYH11, ATR, HSPG2, PRLR

THANATOPHORIC DYSPLASIA, TYPE I, ESTROGEN RESISTANCE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, THANATOPHORIC DYSPLASIA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, OSTEOGLOPHONIC DYSPLASIA, CATSHL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CONGENITAL DIAPHRAGMATIC HERNIA, SADDAN, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MYHRE SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

FGFR2, NRAS, LEP, FGFR1, SOX2, FGFR3, ESR1, SMAD4, PAX3, SP7, SOS1, KRAS, HRAS

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BENT BONE DYSPLASIA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, WAARDENBURG SYNDROME, TYPE 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, STICKLER SYNDROME, TYPE I, 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, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CONGENITAL DIAPHRAGMATIC HERNIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SADDAN, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, EZH2, SPRED1, KRAS, CBL, MAP2K2, SMAD4, PTEN, NOTCH1, ACTB, UBE2A, COL1A1, WNT5A, COL3A1, RPS6KA3, FGFR1, HES7, COL5A1, LEP, COL5A2, WNT7A, SOS1, SHOC2, GJA1, SOX10, FGFR2, BRAF, VCP, AGRN, HNRNPK, RET, COL1A2, PTPN11, HRAS, EFNB1, NF1, FGFR3, PAX3, HSPG2, ESR1, COL2A1, RUNX2, SF3B4, MUSK

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, THANATOPHORIC DYSPLASIA, TYPE I, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WEAVER SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, MENTAL RETARDATION, X-LINKED 90, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, FRONTOMETAPHYSEAL DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, SADDAN, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, EZH2, DLG3, GJA1, CBL, MAP2K2, SMAD4, ACTB, UBE2A, PTPN11, RPS6KA3, FLNA, FGFR1, HES7, LEP, NOTCH1, SOS1, KRAS, FGFR2, VCP, SPRED1, CRYAB, HNRNPK, SHOC2, HRAS, EFNB1, NF1, FGFR3, PAX3, HSPG2, ESR1, BRAF, RUNX2, SF3B4, MUSK

COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

NRAS, KRAS, IGF1R, HRAS, SOS1

THANATOPHORIC DYSPLASIA, TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, LEOPARD SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, CATSHL SYNDROME, BENT BONE DYSPLASIA SYNDROME, SADDAN, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

NRAS, FGFR3, KRAS, FGFR1, FGFR2, LEP, HRAS, SOS1, PTPN11

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, 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, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WEAVER SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OPSISMODYSPLASIA, LOEYS-DIETZ SYNDROME 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, SADDAN, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, EZH2, SMAD3, KRAS, CBL, MAP2K2, SMAD4, ACTB, UBE2A, PTPN11, RPS6KA3, FGFR1, HES7, LEP, NOTCH1, SOS1, GJA1, INPPL1, FGFR2, VCP, SPRED1, HNRNPK, SHOC2, APC, HRAS, EFNB1, NF1, FGFR3, PAX3, HSPG2, ESR1, BRAF, RUNX2, SF3B4, MUSK

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, STICKLER SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE XIII, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, FIBROCHONDROGENESIS 1, ROBINOW SYNDROME

COL1A2, LRP2, DVL1, WNT5A, COL11A1, BMP1, SMAD3, SOX9, COL1A1, WNT7A, MMP13, DDR2, FBLN5, COL5A2, COL2A1, NOG, COL3A1, RUNX2, COL5A1, COL11A2, SOX10

LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, THANATOPHORIC DYSPLASIA, TYPE I, LOEYS-DIETZ SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, LEGIUS SYNDROME, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CATSHL 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, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, 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, LEOPARD SYNDROME 3, MENTAL RETARDATION, X-LINKED 90, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, FRONTOMETAPHYSEAL DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, HOLT-ORAM SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CONGENITAL DIAPHRAGMATIC HERNIA, SADDAN, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, TGFBR1, DLG3, FGFR3, KRAS, CBL, MAP2K2, GNRH1, SMAD4, PTEN, NME1, UBE2A, GNAS, CLASP1, FLNA, NOTCH1, RPS6KA3, VCP, FGFR1, INSR, LEP, PTPN11, AKT2, SOS1, SHOC2, GJA1, FGFR2, TBX5, IGF1R, SPRED1, CRYAB, HNRNPK, DNM2, APC, RUNX2, HRAS, EZH2, EFNB1, ACTB, NF1, HES7, SMAD3, PAX3, HSPG2, BRAF, ESR1, COL2A1, DYNC2H1, SF3B4, MUSK

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, 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, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WEAVER SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LOEYS-DIETZ SYNDROME 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, SADDAN, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, EZH2, SMAD3, KRAS, CBL, MAP2K2, SMAD4, ACTB, UBE2A, PTPN11, HSPG2, FGFR1, HES7, LEP, NOTCH1, SOS1, GJA1, FGFR2, VCP, SPRED1, HNRNPK, SHOC2, APC, HRAS, EFNB1, NF1, FGFR3, PAX3, RPS6KA3, ESR1, BRAF, RUNX2, SF3B4, MUSK

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, AYME-GRIPP SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, FOCAL DERMAL HYPOPLASIA, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, FRONTOMETAPHYSEAL DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?TETRA-AMELIA SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, SERKAL SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, ROBINOW SYNDROME

PTCH1, WNT7A, FLNA, WNT5A, COL1A1, DVL3, WNT3, GNAS, PTH1R, LRP5, EDA, PTCH2, WNT1, IHH, GLI3, PTEN, ROR2, WNT4, MAF, RUNX2, PORCN, GSC

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, SCLEROSTEOSIS 1, WEAVER SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, OSTEOGENESIS IMPERFECTA, TYPE III, MEIER-GORLIN SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ANDROGEN INSENSITIVITY, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, FOCAL DERMAL HYPOPLASIA, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOPERIPHERAL DYSPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, DENYS-DRASH SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, STICKLER SYNDROME, TYPE I, MEIER-GORLIN SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, METATROPIC DYSPLASIA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE XV, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED 90, CONGENITAL DIAPHRAGMATIC HERNIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, OTOPALATODIGITAL SYNDROME, TYPE I, SPONDYLOCOSTAL DYSOSTOSIS 5, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MULTIPLE SYNOSTOSES SYNDROME 1, ?TETRA-AMELIA SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, SED CONGENITA, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, HOLT-ORAM SYNDROME, ROBINOW SYNDROME, BRACHYOLMIA TYPE 3, RUBINSTEIN-TAYBI SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, SERKAL SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3

SOX9, AR, DLG3, TRPV4, SOX2, AXIN2, WNT7A, FOXL2, SMAD4, DVL3, SP7, WNT3, WNT5A, GLI3, NOTCH1, COL1A1, GATA6, HDAC6, LRP5, ORC1, EDA, TUBB, SOST, TBX5, CDC6, RSPO1, CBL, AKT2, DVL1, NOG, WT1, ICK, GNAS, WNT1, DNM2, TBX6, APC, PTEN, ROR2, EZH2, WNT4, MUSK, SMAD3, PAX3, CREBBP, ESR1, AMER1, FLNA, COL2A1, RUNX2, PORCN, GSC

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, THANATOPHORIC DYSPLASIA, TYPE I, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, MENTAL RETARDATION, X-LINKED 90, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, FRONTOMETAPHYSEAL DYSPLASIA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LOEYS-DIETZ SYNDROME 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, SADDAN, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, EZH2, DLG3, FGFR3, KRAS, CBL, MAP2K2, SMAD4, ACTB, UBE2A, PTPN11, RPS6KA3, FLNA, FGFR1, HES7, LEP, NOTCH1, SOS1, GJA1, FGFR2, VCP, SPRED1, CRYAB, HNRNPK, SHOC2, APC, HRAS, EFNB1, NF1, SMAD3, PAX3, HSPG2, ESR1, BRAF, RUNX2, SF3B4, MUSK

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, 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, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, ?DYSTONIA, JUVENILE-ONSET, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WEAVER SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ESTROGEN RESISTANCE, LEOPARD SYNDROME 3, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, WAARDENBURG SYNDROME, TYPE 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LOEYS-DIETZ SYNDROME 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, SADDAN, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, EZH2, SMAD3, KRAS, CBL, MAP2K2, SMAD4, ACTB, UBE2A, PTPN11, HSPG2, FGFR1, HES7, LEP, NOTCH1, SOS1, GJA1, FGFR2, VCP, SPRED1, HNRNPK, SHOC2, APC, HRAS, EFNB1, NF1, FGFR3, PAX3, RPS6KA3, ESR1, BRAF, RUNX2, SF3B4, MUSK

MEIER-GORLIN SYNDROME 1, ?PREMATURE OVARIAN FAILURE 10, MEIER-GORLIN SYNDROME 5, MEIER-GORLIN SYNDROME 4, MEIER-GORLIN SYNDROME 3, MEIER-GORLIN SYNDROME 2

ORC4, CDT1, ORC1, ORC6, CDC6, MCM8

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, BRUCK SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, OSTEOGENESIS IMPERFECTA, TYPE XIII, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, OSTEOGENESIS IMPERFECTA, TYPE VII, MULTIPLE SYNOSTOSES SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE VIII, LOEYS-DIETZ SYNDROME 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, ROBINOW SYNDROME, FIBROCHONDROGENESIS 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2

SOX9, DDR2, WNT7A, COL1A1, COL5A2, CRTAP, FBLN5, COL11A1, COL11A2, PLOD3, COL5A1, NOG, COL3A1, SERPINH1, BMP1, SOX10, WNT5A, DVL1, MMP13, PLOD2, COL1A2, LRP2, COL13A1, SMAD3, P3H1, COL2A1, RUNX2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, THANATOPHORIC DYSPLASIA, TYPE II, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, LEPRECHAUNISM, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BENT BONE DYSPLASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, LOEYS-DIETZ SYNDROME 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, WAARDENBURG SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, LEGIUS SYNDROME, MYHRE SYNDROME, CATSHL 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, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, STICKLER SYNDROME, TYPE I, 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, MENTAL RETARDATION, X-LINKED 90, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CONGENITAL DIAPHRAGMATIC HERNIA, ALAGILLE SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SADDAN, OSTEOGENESIS IMPERFECTA, TYPE III, ROBINOW SYNDROME, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACTA1, NRAS, ACTB, DLG3, FGFR3, GJA1, CBL, MAP2K2, SMAD4, PTEN, COL5A2, UBE2A, SP7, GNAS, WNT5A, COL3A1, COL1A1, RPS6KA3, FGFR1, INSR, COL5A1, LEP, NOTCH1, AKT2, WNT7A, SOS1, SHOC2, KRAS, SOX10, FGFR2, BRAF, VCP, SPRED1, CLASP1, HNRNPK, PTPN11, COL1A2, APC, RUNX2, HRAS, EZH2, NOTCH3, JAG1, EFNB1, NF1, HES7, SMAD3, PAX3, HSPG2, ESR1, COL2A1, DYNC2H1, SF3B4, MUSK

THANATOPHORIC DYSPLASIA, TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, CATSHL SYNDROME, SADDAN, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

NRAS, FGFR3, KRAS, FGFR1, LEP, HRAS, SOS1, PTPN11

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, THANATOPHORIC DYSPLASIA, TYPE I, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, 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, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SYNOSTOSES SYNDROME 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, COFFIN-LOWRY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-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, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, STICKLER SYNDROME, TYPE I, MYHRE SYNDROME, MENTAL RETARDATION, X-LINKED 90, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

ACTA1, PTCH1, SOX9, DNM2, DLG3, TNFRSF1A, FGFR3, BIN1, NRAS, MAP2K2, SMAD4, COL5A1, COL5A2, UBE2A, SEMA3A, SEMA3E, IGBP1, COL3A1, COL1A1, RPS6KA3, FGFR2, KRAS, IGF1R, GJA1, ACTB, INSR, USP9X, NOG, LEP, NOTCH1, FLNA, WNT7A, SOS1, SHOC2, CBL, SPRED1, SOX10, AIP, WNT5A, FGFR1, IHH, BRAF, HS6ST1, MET, AGRN, AR, CLASP1, HNRNPK, TGFBR1, RET, COL1A2, NME1, PTEN, HRAS, LRP2, EZH2, JAG1, IFT80, EFNB1, PTPRF, MUSK, HES7, MYH11, PAX3, ATR, HSPG2, ESR1, VCP, COL2A1, PTPN11, RUNX2, SF3B4, NF1

LYSYL HYDROXYLASE 3 DEFICIENCY, CHIME SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, WEAVER SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, GM1-GANGLIOSIDOSIS, TYPE I, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, SIALIC ACID STORAGE DISORDER, INFANTILE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), OTOPALATODIGITAL SYNDROME, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, OSTEOGENESIS IMPERFECTA, TYPE II, LATERAL MENINGOCELE SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, GELEOPHYSIC DYSPLASIA 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ?DYSTONIA, JUVENILE-ONSET, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ALAGILLE SYNDROME, BOHRING-OPITZ SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, COLE-CARPENTER SYNDROME 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, ESTROGEN RESISTANCE, CONGENITAL DIAPHRAGMATIC HERNIA, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, PETERS-PLUS SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, AU-KLINE SYNDROME, SIALURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, NESTOR-GUILLERMO PROGERIA SYNDROME

GLE1, BANF1, EZH2, GLB1, BIN1, HNRNPK, SMAD4, NOTCH1, ASXL1, PIGL, PIGT, CENPE, FLNA, B3GLCT, PMM2, PLOD3, EXT2, NOTCH3, MGAT2, ALG11, MFAP5, SOS1, KRAS, SOX10, ESR1, CBL, SLC17A5, MET, ADAMTS10, FBN1, GNAS, COL1A1, DPAGT1, DES, ALG2, HRAS, COL1A2, ARSB, JAG1, RPS19, GNE, ACTB, SEC24D, XRCC4, RFT1, HSPG2, GNRH1, ADAMTSL2, RUNX2, PIGN