PRENATAL MANIFESTATIONS

BETHLEM MYOPATHY 1, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, MARFAN LIPODYSTROPHY SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}

COL1A1, COL3A1, COL6A2, COL6A1, COL5A2, ITGA8, COL5A1, FBN1, ITGA6, COL6A3, COL1A2, COL2A1, NOS3

TRIFUNCTIONAL PROTEIN DEFICIENCY, BARTH SYNDROME, LONG QT SYNDROME 15

CALM1, HADHB, HADHA, TAZ

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, LYMPHEDEMA, HEREDITARY, IA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, MARFAN LIPODYSTROPHY SYNDROME, RENAL ADYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}

EFEMP2, BMPER, AGT, ITGA8, COL1A1, FBN1, FLT4, FBLN5, COL1A2

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS

SOX9, COL6A3, ITGA6, FBLN5, COL6A1, COL11A1, PLEC, COL1A1, COL3A1, COL5A2, COL6A2, COL5A1, ITGB4, COL2A1, COL1A2

BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MARFAN LIPODYSTROPHY SYNDROME

SOX9, BMPER, COL6A2, SPINT2, AGT, COL3A1, FBN1, COL11A1, FBLN5, COL1A2, COL6A1, COL6A3, COL1A1, COL5A1, COL2A1, COL5A2

BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS

COL6A2, COL6A1, COL11A1, COL3A1, COL1A1, COL5A1, COL5A2, COL6A3, COL2A1, COL1A2

BETHLEM MYOPATHY 1, RENAL ADYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}

COL1A1, COL3A1, SOX9, COL6A2, COL2A1, AGT, ITGA8, ALB, COL5A2, COL6A1, COL6A3, COL1A2, COL5A1, MUSK, NOS3

MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, RENAL TUBULAR DYSGENESIS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CARDIOFACIOCUTANEOUS SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?RENAL HYPODYSPLASIA/APLASIA 2, EHLERS-DANLOS SYNDROME, TYPE IV

ACTA1, CALM1, ACE, PLEC, ERBB3, SHOC2, MAP2K2, COL5A1, COL6A2, IGF2, COL5A2, AGT, RYR1, NOS3, COL1A2, COL6A1, CBL, BRAF, FGF20, COL3A1, COL1A1, RET, HRAS, MUSK, FGFR3, COL2A1, COL6A3, SF3B4

BETHLEM MYOPATHY 1, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS

COL6A2, RET, COL6A1, COL5A1, COL1A2, COL5A2, COL6A3, COL2A1, COL3A1

CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE

TNNT2, ACTA1, NEB, TPM3

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, TYPE VIIC, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, OSTEOGENESIS IMPERFECTA, TYPE VII, EHLERS-DANLOS SYNDROME, TYPE VI

ADAMTS2, PLOD1, SOX9, COL6A3, COL6A1, FBLN5, COL11A1, PLEC, COL1A1, COL3A1, ITGA6, COL6A2, CRTAP, COL1A2, COL5A1, ITGB4, COL2A1, COL5A2

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

CHRNE, CHRNA1, CHRNG, CHRND

BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS

ITGA6, COL6A1, COL11A1, COL3A1, COL1A1, COL5A1, COL5A2, ITGB4, COL2A1, COL1A2

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, VISCERAL MYOPATHY, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, MYOTUBULAR MYOPATHY, X-LINKED, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MARFAN LIPODYSTROPHY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VII, BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1

CALM1, SOX9, COL6A2, PLEC, FBLN5, COL1A1, COL5A2, IGF2, ITGB4, FLT4, NOS3, MYCN, CRTAP, COL11A1, BRAF, COL5A1, COL3A1, COL6A1, ITGA8, PLOD1, ITGA6, SPINT2, FBN1, DNM2, COL1A2, ADAMTS2, EFEMP2, BMPER, MUSK, MYH11, ALB, AGT, COL2A1, COL6A3

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ACHONDROGENESIS IB, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}

PIGA, SLC26A2, NEU1, COL1A1, PMM2, COL1A2, GPC3, ALG1, NOS3

BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, TYPE VIIC, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, OSTEOGENESIS IMPERFECTA, TYPE VII, EHLERS-DANLOS SYNDROME, TYPE VI

ADAMTS2, PLOD1, SOX9, COL6A3, COL6A1, COL11A1, COL3A1, COL1A1, COL1A2, ITGA6, COL6A2, CRTAP, COL5A1, COL2A1, COL5A2

BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV

ITGA6, COL6A1, COL3A1, COL1A1, COL5A1, COL5A2, ITGB4, COL1A2

VISCERAL MYOPATHY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LONG QT SYNDROME 15

CALM1, TPM3, MYH11, ACTG2

LONG QT SYNDROME 15, LYMPHEDEMA, HEREDITARY, IA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, VISCERAL MYOPATHY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS

ACTA1, CALM1, TNNT2, TPM3, MYH11, NEB, ACTG2, FLT4, HRAS

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?PRUNE BELLY SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MEIER-GORLIN SYNDROME 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CEREBROOCULOFACIOSKELETAL SYNDROME 3, ICHTHYOSIS, X-LINKED, BARTTER SYNDROME, TYPE 2, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, ACHONDROGENESIS IB, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MARFAN LIPODYSTROPHY SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ?RENAL HYPODYSPLASIA/APLASIA 2, MYOTUBULAR MYOPATHY, X-LINKED, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MUCOPOLYSACCHARIDOSIS VII, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, METATROPIC DYSPLASIA, SCHNECKENBECKEN DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CODAS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1

ACTA1, CALM1, SOX9, GPC3, FGFR3, SLC26A2, ERBB3, ACE, MAP2K2, SNRPB, PIGA, SHOC2, IGF2, COL3A1, PTH1R, GMPPB, GUSB, BUB1B, PMM2, PPARG, ORC1, NEU1, RAPSN, NOS3, COL1A1, SLC35D1, INPPL1, CBL, LONP1, ITGA6, KCNJ1, FGF20, SARS2, ALG1, ATP6V0A2, RPL11, GATA6, FBN1, ABCB4, CLASP1, DNM2, EP300, COL1A2, ERCC5, SNAP25, HRAS, RPS19, TSHR, STS, MUSK, TRPV4, ALDH18A1, AGT, CHRM3, AMER1, COL2A1, PAH, SF3B4, POR, GLE1