PRENATAL MANIFESTATIONS

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS

ACTA1, COL3A1, SOX9, COL2A1, COL5A2, COL11A1, REN, ALB, COL1A1, COL1A2, ITGA6, NOS3, IGF2, COL5A1, ITGB4, FLT4, HRAS

BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, LONG QT SYNDROME 15, FIBROCHONDROGENESIS 1, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

CALM1, COL6A2, COL6A1, AGT, PPARG, COL3A1, ERBB3, COL5A1, COL11A1, COL1A2, SLC9A3, COL6A3, COL1A1, COL2A1, COL5A2

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, THANATOPHORIC DYSPLASIA, TYPE II, BOHRING-OPITZ SYNDROME, MEIER-GORLIN SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE I, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GAUCHER DISEASE, PERINATAL LETHAL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NIEMANN-PICK DISEASE TYPE C1, ICHTHYOSIS, X-LINKED, SIALIC ACID STORAGE DISORDER, INFANTILE, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUCOPOLYSACCHARIDOSIS VII, NIEMANN-PICK DISEASE, TYPE C2, TRIFUNCTIONAL PROTEIN DEFICIENCY, FEINGOLD SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PEROXISOME BIOGENESIS DISORDER 14B, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, GREENBERG SKELETAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, RENAL TUBULAR DYSGENESIS, METATROPIC DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPOPHOSPHATASIA, INFANTILE, CHONDRODYSPLASIA, BLOMSTRAND TYPE, D-BIFUNCTIONAL PROTEIN DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, MYOTONIC DYSTROPHY 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?RENAL HYPODYSPLASIA/APLASIA 2, EHLERS-DANLOS SYNDROME, TYPE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FIBROCHONDROGENESIS 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, VISCERAL MYOPATHY

CALM1, LMNA, DNM2, COL1A1, F5, LBR, COL3A1, GUSB, AGT, PPARG, AGTR1, REN, MYH7, SLC17A5, COL6A3, SCARF2, CLASP1, NEU1, NPC1, EFEMP2, POR, WNT4, ADCY6, SLC9A3, ATP6V0A2, SF3B4, ACTA1, ACE, TRPV4, ERBB3, MAP2K2, COL6A2, SHOC2, IGF2, NOS3, MYCN, BUB1B, TPM3, NPC2, COL1A2, KIF5C, CBL, COL2A1, TALDO1, EP300, TSHR, TNNT2, BRAF, SNAP25, ALPL, ITGA8, SOX9, COL5A1, FLT4, PTH1R, GMPPB, PEX11B, RAPSN, FGF20, INPPL1, KLF1, PEX3, NPHS1, FBN1, MUSK, FGFR3, STS, CHRM3, ITGA6, ASXL1, NECAP1, HSD17B4, ITGB4, COL5A2, GATA6, COL11A1, DMPK, ORC1, COL6A1, GBA, RPL11, RET, PEX19, ACTG2, HRAS, MYH11, ALB, NEB, FLNB, HADHB

THANATOPHORIC DYSPLASIA, TYPE II, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, CHONDRODYSPLASIA, BLOMSTRAND TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, VESICOURETERAL REFLUX 3, ?RENAL HYPODYSPLASIA/APLASIA 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, KEUTEL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, SERKAL SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MYOTONIC DYSTROPHY 1, LOWE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, VISCERAL MYOPATHY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, SECKEL SYNDROME 9, HYPERTHYROIDISM, NONAUTOIMMUNE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESCOBAR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, CAUDAL REGRESSION SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE

CALM1, LMNA, TRAIP, COL1A1, CHRNG, LBR, COL3A1, AGT, PPARG, COL5A1, PPP1R3A, UBA1, VANGL1, REN, MYH7, COL6A3, CLASP1, DNM2, BMPER, WNT4, ADCY6, SLC9A3, SF3B4, OCRL, ACTA1, ACE, CHRND, FGFR3, ERBB3, ABCA12, COL6A2, TRPV4, IGF2, NOS3, MYCN, MTM1, RYR1, EPHX1, COL1A2, KIF5C, CBL, CNTNAP1, TALDO1, DNM1L, SOX9, EP300, FKBP14, TSHR, TNNT2, BRAF, SNAP25, GPC3, ALPL, ITGA8, SHOC2, AGTR1, FLT4, PTH1R, CNTN1, ASCC1, RAPSN, CHRNA1, CRB2, SOX17, INPPL1, KLF1, NPHS1, SOX18, ABCB4, MAP2K2, MUSK, IL1RN, CHRM3, ITGA6, SKIV2L, HRAS, COL2A1, GLE1, CHRNE, HSD17B4, DHCR7, ITGB4, COL5A2, GATA6, COL11A1, DMPK, PKLR, COL6A1, CPT1A, RPL11, STRADA, FBN1, RET, PEX19, FOXF1, FGF20, MGP, MYH11, ALB, NEB, FLNB, TPM3

FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ATELOSTEOGENESIS, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, 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, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RENAL TUBULAR DYSGENESIS, SERKAL SYNDROME

ACTA1, GPC3, ERBB3, MAP2K2, IGF2, FLT4, COL1A2, GATA6, AGT, NOS3, COL6A1, CBL, ITGA6, COL2A1, COL1A1, DNM2, EP300, HRAS, MUSK, ALB, BRAF, FLNB, WNT4

BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, 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, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, LONG QT SYNDROME 15, FIBROCHONDROGENESIS 1, RENAL ADYSPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC

CALM1, COL3A1, SOX9, COL6A3, COL6A1, COL11A1, ITGA8, PPARG, COL1A1, COL1A2, ITGA6, COL6A2, SNAP25, COL5A1, ITGB4, COL2A1, COL5A2

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, LONG QT SYNDROME 15, MUSCULAR DYSTROPHY, CONGENITAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPERTHYROIDISM, NONAUTOIMMUNE, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, VISCERAL MYOPATHY, OSTEOGENESIS IMPERFECTA, TYPE II, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RENAL ADYSPLASIA, RUBINSTEIN-TAYBI SYNDROME 2, RENAL TUBULAR DYSGENESIS

CALM1, ACE, ITGA8, ERBB3, SOX9, IGF2, ITGB4, COL1A2, LMNA, TPM3, MYH7, ITGA6, CBL, EP300, HRAS, TSHR, TNNT2, MYH11, ADCY6, NEB, COL2A1, ACTG2

RUBINSTEIN-TAYBI SYNDROME 2, CARDIOFACIOCUTANEOUS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL ADYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC

RET, TPM3, PPARG, MAP2K2, BRAF, EP300, HRAS

MYOTUBULAR MYOPATHY, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PYRUVATE KINASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OPSISMODYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, VISCERAL MYOPATHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

ACTA1, CALM1, CBL, DNM2, NPHS1, MUSK, ERBB3, MYH11, MAP2K2, EP300, PPP1R3A, PKLR, HRAS, BRAF, NOS3, SF3B4, INPPL1

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOTONIC DYSTROPHY 1, LOWE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CPT DEFICIENCY, HEPATIC, TYPE IA, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MARFAN LIPODYSTROPHY SYNDROME, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, CHONDRODYSPLASIA, BLOMSTRAND TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, RENAL ADYSPLASIA, VESICOURETERAL REFLUX 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, RENAL TUBULAR DYSGENESIS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, THANATOPHORIC DYSPLASIA, TYPE I, OPSISMODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, METATROPIC DYSPLASIA, CAUDAL REGRESSION SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, MYOTUBULAR MYOPATHY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DIAPHANOSPONDYLODYSOSTOSIS, ?RENAL HYPODYSPLASIA/APLASIA 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, SERKAL SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

CALM1, LMNA, COL1A1, LBR, COL3A1, AGT, PPARG, COL5A1, PPP1R3A, UBA1, VANGL1, REN, MYH7, COL6A1, CLASP1, DNM2, BMPER, WNT4, ADCY6, SLC9A3, SF3B4, OCRL, ACTA1, ACE, IL1RN, ERBB3, MAP2K2, COL6A2, TRPV4, IGF2, NOS3, MYCN, MTM1, RYR1, COL1A2, KIF5C, CBL, COL2A1, DNM1L, SOX9, EP300, FKBP14, TSHR, TNNT2, BRAF, RET, ALPL, ITGA8, SHOC2, AGTR1, FLT4, PTH1R, ASCC1, CHRNA1, CRB2, SOX17, INPPL1, KLF1, NPHS1, FBN1, MUSK, FGFR3, CHRM3, ITGA6, SKIV2L, HRAS, CHRNE, HSD17B4, DHCR7, ITGB4, COL5A2, GATA6, COL11A1, DMPK, COL6A3, CPT1A, RPL11, STRADA, SOX18, GPC3, PEX19, FOXF1, FGF20, MYH11, ALB, NEB, FLNB, TPM3

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CHONDRODYSPLASIA, BLOMSTRAND TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DIAMOND-BLACKFAN ANEMIA 7, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SECKEL SYNDROME 9, KEUTEL SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ESCOBAR SYNDROME

ACTA1, CALM1, SOX9, RET, ALPL, CHRNE, IL1RN, ITGA8, ERBB3, COL1A1, CHRND, CHRNG, AGTR1, COL5A2, AGT, FLT4, ITGB4, IGF2, COL3A1, PTH1R, COL11A1, PPARG, COL5A1, CHRNA1, NOS3, COL6A1, ALB, KIF5C, CBL, COL6A2, COL2A1, TRAIP, RPL11, MYCN, FBN1, TALDO1, DNM2, EP300, COL1A2, FOXF1, HRAS, TSHR, MGP, MUSK, MYH11, ADCY6, CNTN1, CHRM3, ITGA6, CNTNAP1, COL6A3, SNAP25, SF3B4

?PRUNE BELLY SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BARTTER SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CHONDRODYSPLASIA, BLOMSTRAND TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1

CALM1, SOX9, ALPL, TRPV4, COL1A1, ALB, COL6A2, FLT4, COL5A2, PPARG, PTH1R, KCNJ1, COL11A1, RYR1, EPHX1, SLC9A3, COL5A1, NOS3, COL6A1, KIF5C, CBL, ITGA6, KLF1, COL3A1, ABCB4, EP300, COL1A2, HRAS, EFEMP2, MYH11, ADCY6, AGT, CHRM3, COL2A1, COL6A3, SLC26A3, SNAP25

OPSISMODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, LONG QT SYNDROME 15, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, VISCERAL MYOPATHY, RUBINSTEIN-TAYBI SYNDROME 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

CALM1, SOX9, ERBB3, MAP2K2, NOS3, AGT, RYR1, EPHX1, AGTR1, PPP1R3A, INPPL1, KIF5C, MYH7, EP300, HRAS, TNNT2, MYH11, ADCY6, NEB, BRAF, ACTG2, TPM3

?PRUNE BELLY SYNDROME, HYPOPHOSPHATASIA, INFANTILE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, BOHRING-OPITZ SYNDROME, MYOTONIC DYSTROPHY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, ATELOSTEOGENESIS, TYPE I, CPT II DEFICIENCY, LETHAL NEONATAL, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, 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, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME

ACTA1, CALM1, ACE, ALPL, PPARG, REN, ERBB3, SOX9, MAP2K2, CPT2, ALB, ASXL1, FLT4, IGF2, NOS3, PTH1R, BUB1B, RYR1, EPHX1, AGTR1, RAPSN, PPP1R3A, PKLR, POR, COL1A1, INPPL1, KIF5C, CBL, BRAF, NPHS1, CPT1A, RPL11, MYCN, WNT4, NEU1, EP300, PEX19, SNAP25, HRAS, GATA6, COL1A2, RPS19, TSHR, MUSK, MYH11, ADCY6, AGT, CHRM3, COL2A1, FLNB, SF3B4, DMPK

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ATELOSTEOGENESIS, TYPE I, 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, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CARDIOFACIOCUTANEOUS SYNDROME, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BETHLEM MYOPATHY 1, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1

CALM1, ACE, ITGA8, SOX9, COL1A1, COL6A2, LBR, IGF2, ITGB4, FLT4, COL5A2, COL11A1, BRAF, COL5A1, NOS3, COL6A1, CBL, ITGA6, COL3A1, COL1A2, HRAS, TNNT2, MUSK, MYH11, ALB, AGT, NEB, COL2A1, COL6A3, FLNB

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, THANATOPHORIC DYSPLASIA, TYPE II, BOHRING-OPITZ SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MARFAN LIPODYSTROPHY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, 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, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, OPSISMODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, SERKAL SYNDROME

ACTA1, CALM1, ACE, RET, ALPL, TRPV4, ITGA8, ERBB3, SOX9, MAP2K2, ALB, ASXL1, COL6A2, LBR, FLT4, ITGB4, IGF2, COL3A1, MYCN, COL11A1, BRAF, COL5A1, RAPSN, NOS3, COL6A1, INPPL1, MYH7, COL2A1, KLF1, COL5A2, CBL, NPHS1, GATA6, FBN1, TALDO1, COL1A1, DNM2, EP300, FGFR3, COL1A2, SNAP25, HRAS, TNNT2, MUSK, MYH11, ADCY6, AGT, NEB, ITGA6, SLC9A3, COL6A3, FLNB, SF3B4, WNT4

ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, RESTRICTIVE DERMOPATHY, LETHAL, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, VISCERAL MYOPATHY, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RENAL ADYSPLASIA, RUBINSTEIN-TAYBI SYNDROME 2

CALM1, ACE, COL2A1, LMNA, TPM3, TNNT2, ITGA8, MYH11, MYH7, COL1A2, ITGA6, EP300, ACTG2, ITGB4, IGF2, NOS3

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HYPOPHOSPHATASIA, INFANTILE, RESTRICTIVE DERMOPATHY, LETHAL, LONG QT SYNDROME 15, NEU-LAXOVA SYNDROME 2, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CODAS SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, MYOTONIC DYSTROPHY 1, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SMITH-LEMLI-OPITZ SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RUBINSTEIN-TAYBI SYNDROME 2, MUCOPOLYSACCHARIDOSIS VII

CALM1, LMNA, ALPL, LONP1, GUSB, POR, TNNT2, DMPK, PPARG, SOX9, ALB, EP300, CPT2, COX15, NOS3, PNPO, DHCR7, IGF2, COQ7, PSAT1

RUBINSTEIN-TAYBI SYNDROME 2, RESTRICTIVE DERMOPATHY, LETHAL, LONG QT SYNDROME 15, MUSCULAR DYSTROPHY, CONGENITAL, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RENAL ADYSPLASIA, RENAL TUBULAR DYSGENESIS

CALM1, ACE, COL2A1, TNNT2, ITGA8, MYH11, LMNA, ADCY6, NEB, MYH7, ITGA6, EP300, IGF2, ITGB4, TPM3, COL1A2

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, THANATOPHORIC DYSPLASIA, TYPE II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, 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 TUBULAR DYSGENESIS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CARDIOFACIOCUTANEOUS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, BETHLEM MYOPATHY 1, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ?RENAL HYPODYSPLASIA/APLASIA 2, OPSISMODYSPLASIA, FIBROCHONDROGENESIS 1

ACTA1, CALM1, SOX9, FGFR3, ITGA8, SHOC2, MAP2K2, COL5A1, COL6A2, FLT4, ITGB4, IGF2, COL5A2, COL11A1, PPARG, NOS3, COL3A1, COL6A1, INPPL1, CBL, ITGA6, FGF20, COL1A1, EP300, COL1A2, FOXF1, HRAS, MYH11, ALB, AGT, COL2A1, COL6A3