PRENATAL MANIFESTATIONS

?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BARTTER SYNDROME, TYPE 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 10, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, 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, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, CONGENITAL, METATROPIC DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 7, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, 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, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

CALM1, LMNA, GPC3, DOK7, TRPV4, FBLN5, ERBB3, MAP2K2, AGT, FLT4, ITGB4, NOS3, PTH1R, BUB1B, PPARG, AGTR1, RAPSN, UBA1, COL1A1, REN, KIF5C, MYH7, COL2A1, KCNJ1, RPL11, NPHS1, GATA6, FBN1, DNM1L, ABCA12, DNM2, EP300, PEX19, FOXF1, HRAS, MUSK, MYH11, CNTN1, CHRM3, ITGA6, CNTNAP1, SNAP25

?PRUNE BELLY SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, 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, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, ?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, MYOTUBULAR MYOPATHY, X-LINKED, BETHLEM MYOPATHY 1, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, 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, ADAMS-OLIVER SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, RENAL TUBULAR DYSGENESIS, OPSISMODYSPLASIA

ACTA1, CALM1, SOX9, RET, FBLN5, ERBB3, MYH7, COL1A1, ALB, F5, IGF2, ITGB4, FLT4, NOS3, GATA6, AGT, PPARG, SLC9A3, AGTR1, COL1A2, COL6A1, INPPL1, KIF5C, DOCK6, COL2A1, KLF1, CBL, NPHS1, CLASP1, DNM2, EP300, HRAS, EFEMP2, TSHR, MUSK, MYH11, ADCY6, BRAF, CHRM3, ITGA6

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CODAS SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NIEMANN-PICK DISEASE TYPE C1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PYRUVATE KINASE DEFICIENCY, 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, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HYPERTHYROIDISM, NONAUTOIMMUNE, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, SOX9, ALPL, ERBB3, ACE, F5, IGF2, NOS3, GATA6, AGT, RYR1, PPARG, AGTR1, PKLR, LONP1, BRAF, DNM2, EP300, NPC1, POR, TSHR, TNNT2, MUSK, ALB, COL2A1, HRAS, PAH

MYOTUBULAR MYOPATHY, X-LINKED, CHONDRODYSPLASIA, BLOMSTRAND TYPE, THANATOPHORIC DYSPLASIA, TYPE II, 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, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, VISCERAL MYOPATHY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, RENAL TUBULAR DYSGENESIS, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, CHRNE, FGFR3, ERBB3, COL1A1, IGF2, NOS3, GATA6, AGT, PPARG, CHRNA1, COL1A2, UBA1, RPL11, PTH1R, CLASP1, DNM2, EP300, HRAS, TSHR, POR, MUSK, MYH11, CHRND

?PRUNE BELLY SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, 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, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, ?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, MYOTUBULAR MYOPATHY, X-LINKED, BETHLEM MYOPATHY 1, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, 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, ADAMS-OLIVER SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, RENAL TUBULAR DYSGENESIS, OPSISMODYSPLASIA

ACTA1, CALM1, SOX9, RET, FBLN5, ERBB3, MYH7, COL1A1, ALB, F5, IGF2, ITGB4, FLT4, NOS3, GATA6, AGT, PPARG, SLC9A3, AGTR1, COL1A2, COL6A1, INPPL1, KIF5C, DOCK6, COL2A1, KLF1, CBL, NPHS1, CLASP1, DNM2, EP300, HRAS, EFEMP2, TSHR, MUSK, MYH11, ADCY6, BRAF, CHRM3, ITGA6

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LOWE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CEREBROCOSTOMANDIBULAR SYNDROME, 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, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, TRICHOHEPATOENTERIC SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, 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, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS, PREIMPLANTATION EMBRYONIC LETHALITY, FIBROCHONDROGENESIS 1, SERKAL SYNDROME, YUNIS-VARON SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, ALPL, CHRNE, TRPV4, PLEC, ERBB3, ACE, COL1A1, ALB, HSD17B4, TLE6, ITGB4, NOS3, PTH1R, COL11A1, TPM3, PPARG, SNRPB, CHRNA1, COL1A2, UBA1, INPPL1, MEGF10, ITGA6, LMNA, CBL, RPL11, NPHS1, GATA6, SOX18, GPC3, EP300, FGFR3, HRAS, WNT4, TSHR, MUSK, MYH11, ATP8B1, AGT, NEB, OCRL, COL2A1, SKIV2L, SF3B4, RYR1, FIG4

MYOTUBULAR MYOPATHY, X-LINKED, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LONG QT SYNDROME 15, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?PRUNE BELLY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RENAL ADYSPLASIA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8

CALM1, CBL, REN, CHRNE, PPARG, MUSK, FLT4, IL1RN, ADCY6, ITGA8, CHRM3, NOS3, DNM2, LBR, IGF2, RYR1, HRAS

MYOTUBULAR MYOPATHY, X-LINKED, GLYCOGEN STORAGE DISEASE IV, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ?PRUNE BELLY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NIEMANN-PICK DISEASE TYPE C1, CPT DEFICIENCY, HEPATIC, TYPE IA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CHONDRODYSPLASIA, BLOMSTRAND TYPE, YUNIS-VARON SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, 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, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, COLE-CARPENTER SYNDROME 2, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

ACTA1, CALM1, RET, CHRNE, IL1RN, ITGA8, ERBB3, ALB, F5, LBR, IGF2, NOS3, PTH1R, REN, BUB1B, RYR1, PPARG, CHRM3, AGTR1, RAPSN, CHRNA1, HRAS, GBE1, KIF5C, CBL, BRAF, CPT1A, MYCN, DNM2, EP300, PEX19, NPC1, EFEMP2, TSHR, SEC24D, TRPV4, MUSK, ADCY6, AGT, NEB, SLC9A3, SNAP25, SF3B4, TPM3, FIG4

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, 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, LONG QT SYNDROME 15, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 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, VISCERAL MYOPATHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RENAL ADYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}

CALM1, COL3A1, CBL, COL2A1, AGT, ITGB4, ITGA8, MYH11, FBN1, COL1A1, ITGA6, IGF2, SF3B4, FBLN5, HRAS

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, THANATOPHORIC DYSPLASIA, TYPE II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SCHNECKENBECKEN DYSPLASIA, MARFAN LIPODYSTROPHY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, PREIMPLANTATION EMBRYONIC LETHALITY, RUBINSTEIN-TAYBI SYNDROME 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME

SOX9, TAPT1, ALPL, COL1A1, COL5A1, IGF2, TLE6, COL1A2, PTH1R, BUB1B, FLT4, PPARG, NOS3, EBP, COL5A2, SLC35D1, MYH7, COL3A1, NPHS1, MYCN, FBN1, GPC3, EP300, HRAS, GATA6, BMPER, WNT4, FGFR3, AGT, COL2A1, SF3B4

THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, 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, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LYMPHEDEMA, HEREDITARY, IA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, VESICOURETERAL REFLUX 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, NEPHRONOPHTHISIS 2, INFANTILE, RENAL TUBULAR DYSGENESIS, SERKAL SYNDROME

ACTA1, CALM1, SOX9, ALPL, EPHX1, INVS, CBL, COL1A1, FLT4, COL1A2, MYCN, AGT, PPARG, SOX17, REN, NPHP3, GATA6, GPC3, EP300, HRAS, EFEMP2, TSHR, MUSK, FGFR3, AMER1, COL2A1, WNT4

?PRUNE BELLY SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, 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, 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, METATROPIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, ACHONDROGENESIS IB, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, KEUTEL SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, SOX9, BMPER, COL2A1, ALPL, MGP, TRPV4, RYR1, PPARG, COL1A1, AGT, CHRM3, INPPL1, COL6A1, NOS3, FGFR3, SLC26A2, HRAS

MYOTUBULAR MYOPATHY, X-LINKED, RUBINSTEIN-TAYBI SYNDROME 2, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RENAL TUBULAR DYSGENESIS, BARTTER SYNDROME, TYPE 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

CALM1, KIF5C, TSHR, KCNJ1, AGT, NPHS1, REN, ERBB3, ALB, AGTR1, DNM2, EP300, NOS3

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?PRUNE BELLY SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, CARDIOFACIOCUTANEOUS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GREENBERG SKELETAL DYSPLASIA, CUTIS LAXA, AUTOSOMAL DOMINANT 3, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, PYRUVATE KINASE DEFICIENCY, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, VISCERAL MYOPATHY, EHLERS-DANLOS SYNDROME, TYPE VI, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SCHNECKENBECKEN DYSPLASIA, TRICHOHEPATOENTERIC SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NEU-LAXOVA SYNDROME 2, CODAS SYNDROME, EPILEPSY, PYRIDOXINE-DEPENDENT, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SMITH-LEMLI-OPITZ SYNDROME

CALM1, LMNA, REN, COL1A1, DHCR7, ALB, HSD17B4, LBR, ITGB4, COQ7, PKLR, ALDH7A1, GATA6, PSAT1, AGT, SKIV2L, PPARG, COL3A1, PLOD1, LONP1, GBA, SLC35D1, EBP, FBN1, ABCB4, PEX19, PNPO, POR, MYH11, ALDH18A1, CHRM3, BRAF, HRAS, PAH

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?PRUNE BELLY SYNDROME, NOONAN SYNDROME 8, THANATOPHORIC DYSPLASIA, TYPE II, 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, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, 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, ?RENAL HYPODYSPLASIA/APLASIA 2, MYOTUBULAR MYOPATHY, X-LINKED, OPSISMODYSPLASIA, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV

ACTA1, CALM1, ACE, GPC3, ALPL, MYH11, ERBB3, SOX9, MAP2K2, EP300, ALB, SHOC2, IGF2, FLT4, COL3A1, MYCN, AGT, PPARG, CHRM3, AGTR1, NOS3, COL1A1, INPPL1, CBL, BRAF, FGF20, SCARF2, CLASP1, STRADA, FBN1, DNM2, RET, FGFR3, RIT1, FOXF1, FLNB, HRAS, COL1A2, MUSK, TRPV4, ADCY6, NEB, PKLR, COL2A1, ATP6V0A2

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, NEMALINE MYOPATHY 9, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, MUSCULAR DYSTROPHY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LYMPHEDEMA, HEREDITARY, IA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, DIAPHANOSPONDYLODYSOSTOSIS, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, YUNIS-VARON SYNDROME, OPSISMODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, METATROPIC DYSPLASIA, GENITOPATELLAR SYNDROME, PREIMPLANTATION EMBRYONIC LETHALITY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, DNM2, CHRNE, TRPV4, ERBB3, LMNA, COL1A1, ADCY6, GPC3, TLE6, FLT4, NOS3, KLHL41, AGT, BRAF, PPARG, AGTR1, ASCC1, UBA1, INPPL1, CBL, COL2A1, SCARF2, NPHS1, CLASP1, KAT6B, FBN1, RET, EP300, NEU1, HRAS, EFEMP2, BMPER, MUSK, MYH11, ATP8B1, CNTN1, CHRM3, CNTNAP1, SNAP25, FIG4

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RUBINSTEIN-TAYBI SYNDROME 2, BETHLEM MYOPATHY 1, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EPILEPSY, PYRIDOXINE-DEPENDENT, RENAL TUBULAR DYSGENESIS

CALM1, SOX9, ITGA8, LMNA, COL1A1, IGF2, NOS3, ALDH7A1, AGT, RYR1, COL5A1, COL1A2, COL6A3, MYH7, COL2A1, EP300, PEX19, HRAS, TNNT2, MYH11, NEB, BRAF

THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, 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, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, DIAPHANOSPONDYLODYSOSTOSIS, 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, EHLERS-DANLOS SYNDROME, TYPE IV, TRICHOHEPATOENTERIC SYNDROME 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, RET, ALPL, FGFR3, ITGA8, ERBB3, MAP2K2, ALB, COL5A2, COL6A2, FLT4, UBA1, COL3A1, GATA6, COL6A1, CNTN1, SKIV2L, PPARG, COL5A1, ASCC1, NOS3, COL6A3, COL1A1, KIF5C, CBL, COL2A1, NPHS1, CLASP1, FBN1, GPC3, EP300, COL1A2, HRAS, BMPER, TSHR, MUSK, MYH11, ADCY6, AGT, ITGA6, CNTNAP1, ISPD

?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPILEPSY, PYRIDOXINE-DEPENDENT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GAUCHER DISEASE, PERINATAL LETHAL, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PREIMPLANTATION EMBRYONIC LETHALITY, THANATOPHORIC DYSPLASIA, TYPE I, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, 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, PYRUVATE KINASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, BOHRING-OPITZ SYNDROME, 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 HYPODYSPLASIA/APLASIA 2, MYOTUBULAR MYOPATHY, X-LINKED, CHONDRODYSPLASIA, BLOMSTRAND TYPE, OPSISMODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, CAUDAL REGRESSION SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NEPHRONOPHTHISIS 2, INFANTILE, OSTEOGENESIS IMPERFECTA, TYPE II, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SERKAL SYNDROME, SMITH-LEMLI-OPITZ SYNDROME

ACTA1, CALM1, SOX9, GPC3, ALPL, PPARG, ITGA8, ERBB3, ACE, MAP2K2, LBR, AGTR1, ASXL1, MYCN, DHCR7, FLT4, ITGB4, TLE6, COL3A1, ALDH7A1, PTH1R, EP300, AGT, SKIV2L, EPHX1, INVS, RAPSN, LMNA, NOS3, IGF2, SOX17, IL1RN, VANGL1, CBL, REN, INPPL1, KIF5C, NPHP3, COL2A1, KLF1, GBA, NPHS1, GATA6, CLASP1, FBN1, DNM2, RET, FGFR3, COL1A2, HRAS, EFEMP2, BMPER, TSHR, MUSK, MYH11, ALB, FGF20, BRAF, CHRM3, PKLR, AMER1, ITGA6, CRB2, COL1A1, SF3B4, WNT4

FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, NEPHROTIC SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL ADYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, LYMPHEDEMA, HEREDITARY, III, RENAL TUBULAR DYSGENESIS, SERKAL SYNDROME

ERBB3, COL1A1, FLT4, COL1A2, MYCN, AGT, PPARG, NOS3, COL6A1, BRAF, NPHS1, GATA6, PIEZO1, FBN1, RET, EP300, FOXF1, HRAS, TSHR, MUSK, ITGA6, COL2A1, WNT4

MYOTUBULAR MYOPATHY, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, BOHRING-OPITZ SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, 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, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RENAL TUBULAR DYSGENESIS, FEINGOLD SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CEREBROCOSTOMANDIBULAR SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, DIAPHANOSPONDYLODYSOSTOSIS, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TRANSALDOLASE DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE I, OPSISMODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, TRICHOHEPATOENTERIC SYNDROME 2, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PREIMPLANTATION EMBRYONIC LETHALITY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, KEUTEL SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, EHLERS-DANLOS SYNDROME, TYPE IV, SERKAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, ACE, HSD17B4, ALPL, CHRNE, MYH11, ITGA8, ERBB3, LMNA, COL1A1, BRAF, EP300, SNRPB, ASXL1, SHOC2, GPC3, FLT4, UBA1, ITGB4, TLE6, COL3A1, PPARG, GATA6, CHRM3, CNTN1, TPM3, SOX9, EPHX1, SLC9A3, ORC1, NEU1, RAPSN, AGTR1, ASCC1, NOS3, IGF2, IL1RN, REN, INPPL1, MYH7, ITGA6, CBL, NPHS1, MYCN, FBN1, CHRNA1, TALDO1, ALB, MAP2K2, DNM2, RET, FGFR3, COL1A2, FOXF1, HRAS, EFEMP2, BMPER, POR, TSHR, RYR1, MGP, WNT4, WDR34, MUSK, ADCY6, FGF20, AGT, NEB, PKLR, AMER1, CNTNAP1, SKIV2L, CRB2, DNM1L, FLNB, SF3B4, COL2A1

THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, 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, FEINGOLD SYNDROME, ATELOSTEOGENESIS, 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, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CARDIOFACIOCUTANEOUS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV

ACTA1, CALM1, SOX9, ERBB3, ACE, COL1A1, ITGB4, COL1A2, MYCN, AGT, PPARG, AGTR1, NOS3, BRAF, COL3A1, EP300, FOXF1, HRAS, EFEMP2, TSHR, MUSK, FGFR3, ALB, ITGA6, FLNB

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?PRUNE BELLY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, 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, METATROPIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LYMPHEDEMA, HEREDITARY, III, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1

ACTA1, CALM1, SOX9, CHRNE, REN, COL1A1, IGF2, NOS3, MYCN, COL11A1, PPARG, AGTR1, COL1A2, CBL, COL3A1, PIEZO1, DNM2, EP300, TSHR, TRPV4, ALB, AGT, CHRM3, COL2A1

YUNIS-VARON SYNDROME, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUSCULAR DYSTROPHY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LYMPHEDEMA, HEREDITARY, IA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, DIAPHANOSPONDYLODYSOSTOSIS, 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, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COLE-CARPENTER SYNDROME 2, METATROPIC DYSPLASIA, GENITOPATELLAR SYNDROME, PREIMPLANTATION EMBRYONIC LETHALITY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, MYOTUBULAR MYOPATHY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, DNM2, CHRNE, TRPV4, REN, ERBB3, LMNA, COL1A1, FLT4, TLE6, NOS3, GATA6, AGT, BRAF, PPARG, ASCC1, AGTR1, CHRNA1, UBA1, SOX17, ITGA8, KIF5C, MEGF10, COL2A1, CBL, NPHS1, CLASP1, KAT6B, FBN1, RET, EP300, FOXF1, HRAS, EFEMP2, BMPER, MUSK, MYH11, ADCY6, CNTN1, CHRM3, CNTNAP1, SNAP25, SEC24D, FIG4

ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RENAL TUBULAR DYSGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SERKAL SYNDROME

ACE, POR, AGT, WNT4, PPARG, IGF2

MYOTUBULAR MYOPATHY, X-LINKED, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LONG QT SYNDROME 15, THANATOPHORIC DYSPLASIA, TYPE II, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, PYRUVATE KINASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OPSISMODYSPLASIA, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CPT DEFICIENCY, HEPATIC, TYPE IA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SERKAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2

CALM1, ACE, DNM2, POR, AGT, FGFR3, CPT1A, PPARG, CBL, ALB, PKLR, NOS3, GPC3, EP300, MUSK, IGF2, AGTR1, SF3B4, WNT4, INPPL1

THANATOPHORIC DYSPLASIA, TYPE II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, RENAL ADYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, CAUDAL REGRESSION SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, SERKAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

CALM1, LMNA, ALPL, ERBB3, COL1A1, NOS3, MYCN, AGT, PPARG, ASCC1, UBA1, VANGL1, NPHS1, RET, EP300, HRAS, BMPER, TSHR, WNT4, FGFR3, ALB, COL2A1

?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BARTTER SYNDROME, TYPE 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIAMOND-BLACKFAN ANEMIA 7, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 10, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, 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, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, BOHRING-OPITZ SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, CONGENITAL, METATROPIC DYSPLASIA, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, 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, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

CALM1, LMNA, GPC3, DOK7, TRPV4, FBLN5, ERBB3, MAP2K2, ASXL1, AGT, FLT4, ITGB4, NOS3, PTH1R, BUB1B, SKIV2L, PPARG, AGTR1, RAPSN, UBA1, COL1A1, REN, KIF5C, COL2A1, KCNJ1, RPL11, NPHS1, GATA6, FBN1, DNM1L, ABCA12, DNM2, EP300, PEX19, FOXF1, HRAS, MUSK, MYH11, CNTN1, CHRM3, ITGA6, CNTNAP1, SNAP25

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, NEMALINE MYOPATHY 9, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MYOTONIC DYSTROPHY 1, LOWE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?MECKEL SYNDROME 12, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOPHOSPHATASIA, INFANTILE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OPSISMODYSPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

ACTA1, CALM1, ACE, NEK8, ALPL, TRPV4, KIF14, ERBB3, SOX9, BRAF, KLHL41, HSD17B4, FLT4, ITGB4, NOS3, CNTN1, MYCN, MTM1, BUB1B, RYR1, PPARG, CHRM3, AGTR1, PLEC, INPPL1, DMPK, CBL, SLC9A3, LMNA, NPHS1, GATA6, CLASP1, COL2A1, DNM2, EP300, SNAP25, HRAS, TNNT2, OCRL, MYH11, ADCY6, AGT, NEB, ITGA6, CNTNAP1, FLNB, SF3B4, TPM3, GLE1

THANATOPHORIC DYSPLASIA, TYPE I, LONG QT SYNDROME 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, NEPHROTIC SYNDROME, TYPE 1, METATROPIC DYSPLASIA, 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, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, THANATOPHORIC DYSPLASIA, TYPE II, D-BIFUNCTIONAL PROTEIN DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME

ACTA1, CALM1, CBL, HSD17B4, FGFR3, AGT, NPHS1, MUSK, PPARG, SOX9, SOX18, NOS3, ITGA6, EP300, TRPV4, HRAS, GATA6

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NEMALINE MYOPATHY 9, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OSTEOGENESIS IMPERFECTA, TYPE II, VESICOURETERAL REFLUX 3, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CAUDAL REGRESSION SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?RENAL HYPODYSPLASIA/APLASIA 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RUBINSTEIN-TAYBI SYNDROME 2, RENAL TUBULAR DYSGENESIS

KLHL41, MEGF10, AGT, MUSK, ERBB3, SOX9, CLASP1, FGF20, EP300, NOS3, COL2A1, COL1A2, SOX17, IGF2, SF3B4, VANGL1, HRAS, GATA6

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, 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 IV, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, ?MECKEL SYNDROME 12, VISCERAL MYOPATHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RENAL ADYSPLASIA

COL3A1, SOX9, COL2A1, FBLN5, AGT, SF3B4, KIF14, FLT4, MYH11, CBL, FBN1, ITGA8, NOS3, COL1A1, ITGA6, EP300, IGF2, ITGB4, SNAP25, HRAS

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, NEMALINE MYOPATHY 9, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, 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, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, 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, OPSISMODYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, SOX9, RET, CHRNE, CBL, CHRNG, KLHL41, FLT4, NOS3, TAZ, AGT, RYR1, NEB, CHRNA1, INPPL1, KIF5C, MYH7, DNM2, MUSK, MYH11, ALB, CHRM3, CHRND, ACTG2, SF3B4, 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}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RENAL ADYSPLASIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS

CALM1, ACE, RET, CHRNE, MYH11, MAP2K2, ALB, FLT4, COL1A2, GATA6, AGT, PPARG, AGTR1, NOS3, CBL, COL2A1, MYCN, STRADA, DNM2, HRAS, MUSK, TRPV4, ADCY6, BRAF, ITGA6, FLNB

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, MYH7, TPM3

THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARDIOFACIOCUTANEOUS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, LONG QT SYNDROME 15, PYRUVATE KINASE DEFICIENCY, NEPHROTIC SYNDROME, TYPE 1, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC

CALM1, CBL, BRAF, AGT, PPARG, REN, NPHS1, ALB, COL1A1, SLC26A3, NOS3, PKLR, F5, EP300, IGF2, HRAS

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, GLYCOGEN STORAGE DISEASE IV, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 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, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MEIER-GORLIN SYNDROME 1, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, GENITOPATELLAR SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPOPHOSPHATASIA, INFANTILE, PREIMPLANTATION EMBRYONIC LETHALITY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, NEPHRONOPHTHISIS 2, INFANTILE, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, FIBROCHONDROGENESIS 1, SERKAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, GPC3, ALPL, CHRNE, ITGA8, ERBB3, COL1A1, GBE1, TLE6, NOS3, MYCN, COL11A1, PPARG, ORC1, CHRNA1, COL1A2, UBA1, SOX17, INVS, NPHP3, NPHS1, GATA6, SOX18, KAT6B, RET, EP300, NEU1, FOXF1, HRAS, BMPER, TSHR, MUSK, MYH11, AGT, COL2A1, SNAP25, WNT4

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUSCULAR DYSTROPHY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LYMPHEDEMA, HEREDITARY, IA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, DIAPHANOSPONDYLODYSOSTOSIS, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, YUNIS-VARON SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, METATROPIC DYSPLASIA, GENITOPATELLAR SYNDROME, PREIMPLANTATION EMBRYONIC LETHALITY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, DNM2, CHRNE, TRPV4, ERBB3, LMNA, COL1A1, TLE6, FLT4, NOS3, AGT, BRAF, PPARG, AGTR1, ASCC1, UBA1, CBL, COL2A1, KLF1, NPHS1, CLASP1, KAT6B, FBN1, RET, EP300, HRAS, EFEMP2, BMPER, MUSK, MYH11, ADCY6, CNTN1, CHRM3, CNTNAP1, SNAP25, FIG4

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, GREENBERG SKELETAL DYSPLASIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CPT II DEFICIENCY, LETHAL NEONATAL, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PYRUVATE KINASE DEFICIENCY, NIEMANN-PICK DISEASE TYPE C1, CPT DEFICIENCY, HEPATIC, TYPE IA, CARDIOFACIOCUTANEOUS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, TRIFUNCTIONAL PROTEIN DEFICIENCY, 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, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MYOTONIC DYSTROPHY 1, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, SCHNECKENBECKEN DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, TRICHOHEPATOENTERIC SYNDROME 2, ?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, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NEU-LAXOVA SYNDROME 2, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, EPILEPSY, PYRIDOXINE-DEPENDENT, EHLERS-DANLOS SYNDROME, TYPE VI, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, SMITH-LEMLI-OPITZ SYNDROME

ACTA1, CALM1, LMNA, NEU1, ALPL, IL1RN, REN, SOX9, COL1A1, LBR, CPT2, AGTR1, HSD17B4, DHCR7, ITGB4, COL3A1, NPC1, GATA6, GMPPB, CNTN1, HADHB, PPARG, CHRM3, NOS3, PKLR, ALB, HADHA, SLC26A2, INPPL1, DMPK, PLOD1, ALDH7A1, MYH7, PSAT1, BRAF, CPT1A, IBA57, CLASP1, ABCB4, SLC26A3, FBN1, GPC3, EP300, PEX19, ATP8B1, SNAP25, FKBP14, SARS2, TSHR, TNNT2, MUSK, MYH11, ALDH18A1, AGT, NEB, SLC35D1, COL2A1, SKIV2L, HRAS, PAH, POR

?PRUNE BELLY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOTONIC DYSTROPHY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, TRIFUNCTIONAL PROTEIN DEFICIENCY, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ?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, ?RENAL HYPODYSPLASIA/APLASIA 2, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, ACE, FGFR3, ERBB3, SOX9, MAP2K2, ALB, IGF2, FLT4, NOS3, MYCN, AGT, DMPK, PPARG, PKLR, HADHA, INPPL1, CBL, FGF20, NPHS1, GATA6, STRADA, COL1A1, RET, EP300, PEX19, FOXF1, HRAS, TSHR, POR, MUSK, MYH11, ADCY6, CHRM3, BRAF, ATP6V0A2, SF3B4

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CODAS SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NIEMANN-PICK DISEASE TYPE C1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, RENAL ADYSPLASIA, 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, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, 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, HYPERTHYROIDISM, NONAUTOIMMUNE, RENAL TUBULAR DYSGENESIS, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

ACTA1, CALM1, ACE, RET, ALPL, ERBB3, SOX9, COL1A1, BRAF, F5, IGF2, FLT4, PKLR, GATA6, BUB1B, RYR1, PPARG, AGTR1, NOS3, LONP1, COL2A1, DNM2, EP300, COL1A2, SNAP25, NPC1, POR, TSHR, TNNT2, MUSK, ALB, AGT, ITGA6, SLC9A3, HRAS, PAH

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, HYPERTHYROIDISM, NONAUTOIMMUNE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CPT II DEFICIENCY, LETHAL NEONATAL, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GLYCOGEN STORAGE DISEASE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BARTTER SYNDROME, TYPE 2, CPT DEFICIENCY, HEPATIC, TYPE IA, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, TRIFUNCTIONAL PROTEIN DEFICIENCY, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CHONDRODYSPLASIA, BLOMSTRAND TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MYOTONIC DYSTROPHY 1, PYRUVATE KINASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CEREBROCOSTOMANDIBULAR SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, THANATOPHORIC DYSPLASIA, TYPE II, VISCERAL MYOPATHY, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TRANSALDOLASE DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, GREENBERG SKELETAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MEIER-GORLIN SYNDROME 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ?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, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CODAS SYNDROME, EPILEPSY, PYRIDOXINE-DEPENDENT, EHLERS-DANLOS SYNDROME, TYPE VI, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SMITH-LEMLI-OPITZ SYNDROME

ACTA1, CALM1, ACE, HSD17B4, ALPL, FGFR3, FBLN5, ERBB3, SOX9, COL1A1, LBR, CPT2, ORC1, GBE1, DHCR7, ITGB4, COQ7, NOS3, ALDH7A1, MYCN, GMPPB, TAZ, AGT, HADHB, PPARG, AGTR1, PPP1R3A, LMNA, HRAS, ALB, HADHA, REN, INPPL1, DMPK, PLOD1, CBL, LONP1, KCNJ1, CPT1A, PNPO, GATA6, TALDO1, SNRPB, COX15, RET, EP300, PEX19, PTH1R, SNAP25, FKBP14, COL1A2, EFEMP2, RPS19, TSHR, TPM3, TNNT2, MUSK, MYH11, ADCY6, ALDH18A1, CHRM3, PKLR, BRAF, F5, PAH, POR

LONG QT SYNDROME 15, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, 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, LYMPHEDEMA, HEREDITARY, IA, NEPHROTIC SYNDROME, TYPE 1, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, DIAPHANOSPONDYLODYSOSTOSIS, RUBINSTEIN-TAYBI SYNDROME 2, {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, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

ACTA1, CALM1, SOX9, BMPER, AGT, ERBB3, NPHS1, COL1A1, ASCC1, NOS3, COL2A1, EP300, FLT4, HRAS

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, THANATOPHORIC DYSPLASIA, TYPE II, 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, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, VISCERAL MYOPATHY, RENAL ADYSPLASIA, 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, OPSISMODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, METATROPIC DYSPLASIA, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, EHLERS-DANLOS SYNDROME, TYPE IV, SERKAL SYNDROME

ACTA1, CALM1, ACE, GPC3, DOK7, CHRNE, TRPV4, REN, ERBB3, SOX9, MAP2K2, EP300, AGTR1, SHOC2, FLT4, ITGB4, IGF2, COL3A1, MYCN, ALPL, AGT, SKIV2L, PPARG, NOS3, HRAS, COL6A1, IL1RN, COL1A1, ITGA8, INPPL1, FLNB, CBL, ITGA6, LMNA, FGF20, RPL11, NPHS1, GATA6, CLASP1, STRADA, ALB, FBN1, DNM2, RET, FGFR3, COL1A2, FOXF1, MBTPS2, FKBP14, BMPER, RPS19, TSHR, MUSK, MYH11, ADCY6, BRAF, CHRM3, COL2A1, DNM1L, SNAP25, SF3B4, WNT4

THANATOPHORIC DYSPLASIA, TYPE I, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, THANATOPHORIC DYSPLASIA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS

SOX9, COL6A1, ALPL, FGFR3, COL1A1, COL2A1, INPPL1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ?PRUNE BELLY SYNDROME, HYPOPHOSPHATASIA, INFANTILE, CODAS SYNDROME, MYOTONIC DYSTROPHY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PYRUVATE KINASE DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, TYPE VI, MYOTUBULAR MYOPATHY, X-LINKED, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, SCHNECKENBECKEN DYSPLASIA, ?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, ACHONDROGENESIS IB, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NEU-LAXOVA SYNDROME 2, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, EPILEPSY, PYRIDOXINE-DEPENDENT, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, RENAL TUBULAR DYSGENESIS, GAUCHER DISEASE, PERINATAL LETHAL

CALM1, SOX9, GPC3, ALPL, SLC26A2, ERBB3, LMNA, COL1A1, ADCY6, PNPO, FLT4, ITGB4, IGF2, PKLR, ALDH7A1, MYCN, PSAT1, AGT, DMPK, PPARG, CHRNA1, NOS3, ALB, PLEC, PLOD1, CBL, LONP1, GBA, IBA57, SLC35D1, NEU1, CLASP1, COX15, DNM2, PEX19, SNAP25, HRAS, TSHR, MYH11, ALDH18A1, CHRM3, COL2A1, PAH

COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 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, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2

ACTA1, CALM1, SOX9, BMPER, COL2A1, ALPL, AGT, NPHS1, ERBB3, CLASP1, COL1A1, ASCC1, FBN1, DNM2, EP300, NOS3, FLT4, HRAS, PPARG

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NIEMANN-PICK DISEASE TYPE C1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, 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, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, COLE-CARPENTER SYNDROME 2, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HYPERTHYROIDISM, NONAUTOIMMUNE, RENAL TUBULAR DYSGENESIS, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

ACTA1, CALM1, RET, CHRNE, REN, ERBB3, ALB, F5, LBR, IGF2, NOS3, PTH1R, BUB1B, RYR1, PPARG, CHRM3, AGTR1, CHRNA1, HRAS, ITGA8, KIF5C, CBL, MYCN, DNM2, EP300, PEX19, NPC1, EFEMP2, TSHR, MUSK, IL1RN, ADCY6, AGT, NEB, BRAF, SEC24D

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MYOTUBULAR MYOPATHY, X-LINKED, ?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, 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, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, TRIFUNCTIONAL PROTEIN DEFICIENCY, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ?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, ?RENAL HYPODYSPLASIA/APLASIA 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COLE-CARPENTER SYNDROME 2, TRICHOHEPATOENTERIC SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, 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, 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, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1

ACTA1, CALM1, ACE, RET, ALPL, CHRNE, FGFR3, REN, ERBB3, SOX9, MAP2K2, BRAF, SEC24D, COL5A2, FLT4, IGF2, COL3A1, F5, MYCN, BUB1B, RYR1, PPARG, CHRNA1, NOS3, COL6A1, IL1RN, HADHA, INPPL1, DMPK, CBL, ITGA6, KLF1, FGF20, RPL11, NPHS1, GATA6, CLASP1, STRADA, ALB, COL1A1, DNM2, EP300, PEX19, FOXF1, ATP6V0A2, HRAS, COL1A2, EFEMP2, POR, TSHR, MUSK, MYH11, ADCY6, AGT, CHRM3, PKLR, COL2A1, SKIV2L, SLC26A3, PAH, SF3B4, TPM3

THANATOPHORIC DYSPLASIA, TYPE I, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, THANATOPHORIC DYSPLASIA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS

SOX9, COL6A1, ALPL, FGFR3, COL1A1, COL2A1, INPPL1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, NEMALINE MYOPATHY 9, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, 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}, BARTH SYNDROME, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, 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, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, 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, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, OPSISMODYSPLASIA

ACTA1, CALM1, SOX9, RET, CHRNE, CBL, CHRNG, KLHL41, FLT4, NOS3, GATA6, TAZ, AGT, RYR1, CHRM3, CHRNA1, PKLR, INPPL1, KIF5C, MYH7, CHRND, FBN1, DNM2, EP300, PAH, HRAS, MUSK, MYH11, ALB, CNTN1, NEB, COL2A1, ACTG2, SF3B4, TPM3

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, HYPOPHOSPHATASIA, INFANTILE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, BARTTER SYNDROME, TYPE 1, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), GAUCHER DISEASE, PERINATAL LETHAL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NIEMANN-PICK DISEASE TYPE C1, BARTTER SYNDROME, TYPE 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, NIEMANN-PICK DISEASE, TYPE C2, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYOTONIC DYSTROPHY 1, PYRUVATE KINASE DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, ?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, CHONDRODYSPLASIA, BLOMSTRAND TYPE, OPSISMODYSPLASIA, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, CONGENITAL, METATROPIC DYSPLASIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, 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, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES

ACTA1, CALM1, SOX9, ASCC1, RET, ALPL, CHRNE, TRPV4, ERBB3, ACE, COL1A1, ALB, F5, IGF2, ITGB4, NOS3, PPARG, PTH1R, AGT, RYR1, CHRNA1, UPK3A, CHRM3, AGTR1, TTC7A, LMNA, NPC1, INPPL1, KIF5C, CBL, PPP1R3A, SLC9A3, KCNJ1, GBA, NPHS1, MYCN, CLASP1, TALDO1, ABCA12, DNM2, EP300, PEX19, ATP6V0A2, HRAS, GATA6, POR, TSHR, MUSK, MYH11, STRADA, ADCY6, BRAF, NPC2, PKLR, COL2A1, SLC26A3, SNAP25, SF3B4, DMPK, SLC12A1

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, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}

ADAMTS2, SOX9, COL11A1, COL3A1, COL1A1, NOS3, COL2A1, COL1A2, COL5A1, COL5A2

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, 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, EHLERS-DANLOS SYNDROME, TYPE VI, MYOTUBULAR MYOPATHY, X-LINKED, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIC, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, 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, MARFAN LIPODYSTROPHY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VII, BETHLEM MYOPATHY 1, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NEPHRONOPHTHISIS 2, INFANTILE, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1

CALM1, SOX9, GPC3, PLEC, ITGA8, CBL, COL1A1, BRAF, COL5A2, COL6A2, FLT4, ITGB4, IGF2, COL3A1, MYCN, CRTAP, FBLN5, COL11A1, TPM3, PPARG, COL5A1, RAPSN, NOS3, COL6A1, INVS, PLOD1, NPHP3, ITGA6, SPINT2, NPHS1, GATA6, FBN1, DNM2, COL1A2, FOXF1, HRAS, ADAMTS2, EFEMP2, BMPER, TSHR, MUSK, MYH11, ALB, AGT, COL2A1, COL6A3, SNAP25

ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, RUBINSTEIN-TAYBI SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SERKAL SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

CALM1, MYH7, WNT4, REN, AGT, PPARG, RYR1, ERBB3, ACE, COL2A1, SOX9, EP300, IGF2, FOXF1, MUSK, HRAS, GATA6

FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LOWE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOTONIC DYSTROPHY 1, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, TRICHOHEPATOENTERIC SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2

ACTA1, CALM1, CBL, BMPER, HSD17B4, PEX11B, TPM3, AGT, MUSK, NPHS1, GATA6, COL1A1, NEB, ASCC1, NOS3, RET, SKIV2L, PEX19, OCRL, HRAS, DMPK

MYOTUBULAR MYOPATHY, X-LINKED, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOTONIC DYSTROPHY 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, 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, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, 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, PYRUVATE KINASE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, BOHRING-OPITZ SYNDROME, VISCERAL MYOPATHY, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, PREIMPLANTATION EMBRYONIC LETHALITY, ?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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, RET, ALPL, CHRNE, PLEC, ERBB3, LMNA, COL1A1, BRAF, ASXL1, TLE6, FLT4, COL3A1, MYCN, BUB1B, DMPK, PPARG, ASCC1, AGTR1, CHRNA1, NOS3, UBA1, CBL, CNTNAP1, SCARF2, NPHS1, CLASP1, FBN1, DNM2, EP300, COL1A2, HRAS, EFEMP2, BMPER, WNT4, TSHR, MUSK, MYH11, ALB, AGT, PKLR, ITGA6, CRB2, SNAP25, COL2A1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, 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}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CHONDRODYSPLASIA, BLOMSTRAND TYPE, MYOTONIC DYSTROPHY 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, 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, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, LYMPHEDEMA, HEREDITARY, III, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, LMNA, CHRNE, CHRNG, ALB, NOS3, PTH1R, CNTN1, RYR1, PPARG, CHRNA1, KIF5C, CHRND, PIEZO1, DNM2, PEX19, HRAS, MUSK, IL1RN, ADCY6, AGT, CHRM3, SLC9A3, SLC26A3, PAH, DMPK

MYOTUBULAR MYOPATHY, X-LINKED, CHONDRODYSPLASIA, BLOMSTRAND TYPE, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOTONIC DYSTROPHY 1, 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, NOONAN SYNDROME 8, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FEINGOLD SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, BOHRING-OPITZ SYNDROME, 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, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, OPSISMODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, METATROPIC DYSPLASIA, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, PREIMPLANTATION EMBRYONIC LETHALITY, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, KEUTEL SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, NEPHRONOPHTHISIS 2, INFANTILE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, EHLERS-DANLOS SYNDROME, TYPE IV, SERKAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, RET, ALPL, CHRNE, IL1RN, INVS, ERBB3, ACE, COL1A1, AGTR1, ASXL1, TRPV4, FLT4, TLE6, COL3A1, PTH1R, AGT, DMPK, PPARG, CHRNA1, COL5A1, ASCC1, NOS3, UBA1, SOX17, PLEC, INPPL1, NPHP3, COL2A1, LMNA, COL5A2, CBL, SCARF2, TRIP4, NPHS1, MYCN, CLASP1, DNM1L, FBN1, DNM2, EP300, RIT1, FOXF1, HRAS, GATA6, COL1A2, EFEMP2, BMPER, POR, TSHR, MGP, MUSK, MYH11, ALB, BRAF, PKLR, ITGA6, CNTNAP1, CRB2, SNAP25, SF3B4, WNT4

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, 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}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, RENAL ADYSPLASIA, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CARDIOFACIOCUTANEOUS SYNDROME, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LYMPHEDEMA, HEREDITARY, III, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS, FIBROCHONDROGENESIS 1

CALM1, RET, CHRNE, REN, GPC3, FLT4, PKLR, COL11A1, RYR1, PPARG, NEB, CHRNA1, CBL, PIEZO1, DNM2, EP300, HRAS, TNNT2, MUSK, TRPV4, AGT, CHRM3, BRAF, SNAP25, SF3B4

THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, LYMPHEDEMA, HEREDITARY, IA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RENAL TUBULAR DYSGENESIS, HYPOPHOSPHATASIA, INFANTILE, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, RUBINSTEIN-TAYBI SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SERKAL SYNDROME

TSHR, SOX9, ALPL, REN, AGT, FGFR3, MUSK, EPHX1, COL1A1, AMER1, GPC3, EP300, FLT4, WNT4, COL1A2

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 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}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, CHONDRODYSPLASIA, BLOMSTRAND TYPE, MECKEL SYNDROME 1, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MYOTUBULAR MYOPATHY, X-LINKED, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, TRICHOHEPATOENTERIC SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RUBINSTEIN-TAYBI SYNDROME 2, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, SERKAL SYNDROME

CALM1, SOX9, RET, ITGA8, COL1A1, MKS1, GPC3, NOS3, PTH1R, AGT, SKIV2L, PPARG, ASCC1, COL1A2, MYCN, DNM2, EP300, FOXF1, HRAS, GATA6, BMPER, TSHR, MUSK, MYH11, COL2A1, WNT4

?PRUNE BELLY SYNDROME, NEMALINE MYOPATHY 9, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, LOWE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOTONIC DYSTROPHY 1, VISCERAL MYOPATHY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, OPSISMODYSPLASIA, VAN DEN ENDE-GUPTA SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, ACE, MYH11, LMNA, GATA6, AGT, TPM3, PPARG, NEB, AGTR1, INPPL1, DMPK, MYH7, CBL, SCARF2, NPHS1, EP300, HRAS, TNNT2, OCRL, TRPV4, KLHL41, CHRM3, BRAF, FLNB, RYR1

TRIFUNCTIONAL PROTEIN DEFICIENCY, BARTH SYNDROME, LONG QT SYNDROME 15

CALM1, HADHB, HADHA, TAZ

DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CODAS SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PYRUVATE KINASE DEFICIENCY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, COLE-CARPENTER SYNDROME 2, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HYPERTHYROIDISM, NONAUTOIMMUNE, RENAL TUBULAR DYSGENESIS

CALM1, KIF5C, ACE, ALPL, ERBB3, LMNA, ALB, F5, PKLR, MYCN, AGT, RYR1, PPARG, AGTR1, NOS3, PLOD1, CBL, LONP1, KLF1, GATA6, RET, EP300, COL1A2, HRAS, TSHR, MUSK, MYH11, ADCY6, SEC24D

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, THANATOPHORIC DYSPLASIA, TYPE II, BOHRING-OPITZ SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?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, MYOTUBULAR MYOPATHY, X-LINKED, BETHLEM MYOPATHY 1, 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, METATROPIC DYSPLASIA, CAUDAL REGRESSION SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, ACE, RET, DOK7, CHRNE, MYH11, ERBB3, LMNA, MAP2K2, ALB, ASXL1, SHOC2, GPC3, IGF2, FLT4, NOS3, GATA6, AGT, F5, PPARG, AGTR1, RAPSN, FKBP14, COL6A1, IL1RN, VANGL1, FLNB, CBL, BRAF, NPHS1, MYCN, STRADA, COL1A1, DNM2, EP300, FGFR3, COL1A2, MBTPS2, HRAS, TSHR, RPS19, MUSK, TRPV4, ADCY6, COL2A1, SNAP25

DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ATELOSTEOGENESIS, TYPE I, NEPHROTIC SYNDROME, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LYMPHEDEMA, HEREDITARY, IA, ?MECKEL SYNDROME 12, RENAL ADYSPLASIA, VESICOURETERAL REFLUX 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS, SERKAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

SOX9, TRPV4, ITGA8, ERBB3, COL1A1, FLT4, NOS3, PPARG, GATA6, AGT, UPK3A, UBA1, SOX17, KIF14, KLF1, NPHS1, FBN1, RET, EP300, MUSK, FGFR3, ALB, COL2A1, FLNB, WNT4

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LONG QT SYNDROME 15, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, RUBINSTEIN-TAYBI SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SMITH-LEMLI-OPITZ SYNDROME

CALM1, COL3A1, EFEMP2, GPC3, AGT, MUSK, TRIP4, GATA6, COL5A1, DHCR7, COL1A1, ITGA6, EP300, FLT4, FOXF1, COL1A2

?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOTONIC DYSTROPHY 1, RITSCHER-SCHINZEL SYNDROME 1, LOWE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LYMPHEDEMA, HEREDITARY, IA, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, VAN DEN ENDE-GUPTA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, SERKAL SYNDROME

ACTA1, CALM1, SOX9, HSD17B4, FLT4, NOS3, GATA6, PEX11B, AGT, TPM3, PPARG, NEB, AGTR1, ASCC1, COL1A2, KIAA0196, DMPK, CBL, SCARF2, NPHS1, RET, PEX19, HRAS, BMPER, WNT4, MUSK, ALB, CHRM3, OCRL

MYOTUBULAR MYOPATHY, X-LINKED, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HYPOPHOSPHATASIA, INFANTILE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CODAS SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MEIER-GORLIN SYNDROME 1, MYOTONIC DYSTROPHY 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PYRUVATE KINASE DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, 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, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CEREBROCOSTOMANDIBULAR SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, VISCERAL MYOPATHY, PEROXISOME BIOGENESIS DISORDER 14B, 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, COLE-CARPENTER SYNDROME 2, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, CONGENITAL, METATROPIC DYSPLASIA, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, GENITOPATELLAR SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), SPINAL MUSCULAR ATROPHY-1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, 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, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, ALPL, CHRNE, MYH11, REN, ERBB3, SEC24D, COL1A1, BRAF, LBR, ORC1, COL6A2, DHCR7, FLT4, MEGF10, ITGB4, IGF2, PKLR, GATA6, TAZ, COL6A1, BUB1B, RYR1, PPARG, SLC9A3, TMEM70, RAPSN, PPP1R3A, NOS3, UBA1, SCARF2, DMPK, IGHMBP2, LONP1, COL2A1, LMNA, CBL, RPL11, CPT1A, NPHS1, SNRPB, DNM1L, DNM2, CRB2, PEX19, SNAP25, HRAS, COL1A2, EP300, RPS19, TSHR, COX15, MUSK, TRPV4, ALB, AGT, NEB, ASCC1, ITGA6, CNTNAP1, SLC26A3, KAT6B, ACTG2, SF3B4, TPM3, PEX11B

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, NEMALINE MYOPATHY 9, 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, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, KEUTEL SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MECKEL SYNDROME 11, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LOWE SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, YUNIS-VARON SYNDROME, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CEREBROCOSTOMANDIBULAR SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, VISCERAL MYOPATHY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, 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, ?RENAL HYPODYSPLASIA/APLASIA 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, PREIMPLANTATION EMBRYONIC LETHALITY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MECKEL SYNDROME 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, NEPHRONOPHTHISIS 2, INFANTILE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME

ACTA1, CALM1, ACE, RET, TRPV4, FBLN5, ERBB3, SOX9, MAP2K2, KIAA0586, NEK1, HSD17B4, AGT, TLE6, AGTR1, CLASP1, FLT4, COL3A1, KLHL41, GATA6, BUB1B, RYR1, PPARG, CHRM3, SNRPB, NOS3, IGF2, SOX17, ALB, COL1A1, INVS, TMEM231, DMPK, CBL, COQ7, COL2A1, KLF1, FGF20, NPHS1, MYCN, SOX18, FBN1, MGP, DNM2, EP300, FGFR3, COL1A2, FOXF1, HRAS, EFEMP2, BMPER, WNT4, TSHR, TPM3, TNNT2, MUSK, MYH11, MKS1, ATP8B1, CNTN1, NEB, ITGA6, CNTNAP1, CRB2, SNAP25, WDR35, SF3B4, OCRL, FIG4

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NEMALINE MYOPATHY 9, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OSTEOGENESIS IMPERFECTA, TYPE II, VESICOURETERAL REFLUX 3, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CAUDAL REGRESSION SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?RENAL HYPODYSPLASIA/APLASIA 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RUBINSTEIN-TAYBI SYNDROME 2, RENAL TUBULAR DYSGENESIS

KLHL41, MEGF10, AGT, MUSK, ERBB3, SOX9, CLASP1, FGF20, EP300, NOS3, COL2A1, COL1A2, SOX17, IGF2, SF3B4, VANGL1, HRAS, GATA6

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPOPHOSPHATASIA, INFANTILE, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GAUCHER DISEASE, PERINATAL LETHAL, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, MYOTONIC DYSTROPHY 1, 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, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, GENITOPATELLAR SYNDROME, PREIMPLANTATION EMBRYONIC LETHALITY, ?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), MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NEPHRONOPHTHISIS 2, INFANTILE, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL TUBULAR DYSGENESIS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FIBROCHONDROGENESIS 1, SERKAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, RET, ALPL, MYH11, INVS, ERBB3, SHOC2, COL1A1, BRAF, IGF2, ITGB4, TLE6, NOS3, MYCN, COL6A1, COL11A1, DMPK, PPARG, COL5A1, COL5A2, UBA1, KIF5C, NPHP3, ITGA6, GBA, NEU1, GATA6, CLASP1, KAT6B, FBN1, NEK8, EP300, FGFR3, PEX19, FOXF1, HRAS, COL1A2, EFEMP2, TNNT2, MUSK, TRPV4, ALB, AGT, COL2A1, SNAP25, WNT4

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 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}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, ?MECKEL SYNDROME 12, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, RENAL ADYSPLASIA, KEUTEL SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL TUBULAR DYSGENESIS, FIBROCHONDROGENESIS 1

CALM1, SOX9, KIF14, ACE, COL1A1, IGF2, FLT4, COL1A2, MYCN, COL11A1, PPARG, COL5A1, ITGA8, KIF5C, MEGF10, COL2A1, CBL, GATA6, RET, EP300, FOXF1, HRAS, MGP, MUSK, FGFR3, ALB, AGT, ITGA6, CNTNAP1, SNAP25

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, GREENBERG SKELETAL DYSPLASIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CPT II DEFICIENCY, LETHAL NEONATAL, LOWE SYNDROME, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NIEMANN-PICK DISEASE TYPE C1, ICHTHYOSIS, X-LINKED, BARTTER SYNDROME, TYPE 2, CPT DEFICIENCY, HEPATIC, TYPE IA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, TRIFUNCTIONAL PROTEIN DEFICIENCY, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CHONDRODYSPLASIA, BLOMSTRAND TYPE, YUNIS-VARON SYNDROME, PYRUVATE KINASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MARFAN LIPODYSTROPHY SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, NIEMANN-PICK DISEASE, TYPE C2, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, CONGENITAL, METATROPIC 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, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, OPSISMODYSPLASIA, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, GAUCHER DISEASE, PERINATAL LETHAL, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, SERKAL SYNDROME, SMITH-LEMLI-OPITZ SYNDROME

ACTA1, CALM1, SOX9, GPC3, PIGA, EBP, MYH11, REN, GLE1, COL1A1, DHCR7, CPT2, MYH7, ATP8B1, HSD17B4, MYCN, LBR, IGF2, RET, ITGB4, CHRM3, PKLR, PTH1R, PIGN, GMPPB, KCNJ1, TAZ, AGT, MBTPS2, RYR1, PPARG, NPC2, NOS3, AGTR1, CBL, NPC1, WNT4, IL1RN, HADHA, ALG1, INPPL1, HADHB, KIF5C, NPHP3, MTM1, LMNA, GBA, NPHS1, CPT1A, RPL11, GATA6, CLASP1, ABCB4, FBN1, DNM2, EP300, PEX19, SNAP25, HRAS, COL1A2, PIGY, POR, TSHR, STS, MUSK, TRPV4, ALB, NEU1, NEB, ITGA6, F5, ISPD, OCRL, FIG4

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, BARTTER SYNDROME, TYPE 1, 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, SIALIC ACID STORAGE DISORDER, INFANTILE, CPT DEFICIENCY, HEPATIC, TYPE IA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MYOTONIC DYSTROPHY 1, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CHONDRODYSPLASIA, BLOMSTRAND TYPE, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, COLE-CARPENTER SYNDROME 2, METATROPIC DYSPLASIA, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, TRICHOHEPATOENTERIC SYNDROME 2, ?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, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, OPSISMODYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, CPT II DEFICIENCY, LETHAL NEONATAL, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LYMPHEDEMA, HEREDITARY, III, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14

CALM1, SOX9, RET, ALPL, CHRNE, REN, ERBB3, SEC24D, CHRND, ATP8B1, CPT2, CHRNG, ALB, F5, IGF2, NOS3, PTH1R, GMPPB, KCNJ1, CNTN1, DMPK, PPARG, AGTR1, CHRNA1, INPPL1, KIF5C, MYH7, SLC17A5, SLC9A3, KLF1, CBL, CPT1A, PIEZO1, TALDO1, COX15, DNM2, PEX19, PAH, HRAS, EFEMP2, TSHR, SNAP25, MUSK, TRPV4, STRADA, ADCY6, AGT, CHRM3, BRAF, SKIV2L, ATP6V0A2, RYR1, SLC12A1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, BARTTER SYNDROME, TYPE 1, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), 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, NIEMANN-PICK DISEASE TYPE C1, SIALIC ACID STORAGE DISORDER, INFANTILE, CPT DEFICIENCY, HEPATIC, TYPE IA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, NIEMANN-PICK DISEASE, TYPE C2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MYOTONIC DYSTROPHY 1, PYRUVATE KINASE DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, RENAL ADYSPLASIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CHONDRODYSPLASIA, BLOMSTRAND TYPE, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, ACHONDROGENESIS IB, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, COLE-CARPENTER SYNDROME 2, METATROPIC DYSPLASIA, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, SCHNECKENBECKEN DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, TRICHOHEPATOENTERIC SYNDROME 2, BARTTER SYNDROME, TYPE 2, LYMPHEDEMA, HEREDITARY, III, 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, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, BARTTER SYNDROME, TYPE 4B, DIGENIC, OPSISMODYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, CPT II DEFICIENCY, LETHAL NEONATAL, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14

CALM1, ACE, RET, ALPL, CHRNE, TRPV4, REN, ERBB3, SEC24D, ABCA12, CHRND, STRADA, ATP8B1, CPT2, CHRNG, AGTR1, F5, IGF2, PKLR, NPC1, PTH1R, GMPPB, KCNJ1, AGT, RYR1, SOX9, PPARG, CHRM3, NOS3, CHRNA1, HRAS, ALB, SLC26A2, INPPL1, DMPK, KIF5C, BRAF, CBL, SLC17A5, ITGA6, KLF1, CPT1A, ATP6V0A2, PIEZO1, CLCNKB, DNM1L, CLCNKA, DNM2, EP300, PEX19, SNAP25, BSND, EFEMP2, TSHR, TNNT2, MUSK, MYH11, TALDO1, ADCY6, CNTN1, NPC2, SLC35D1, SLC9A3, SLC26A3, COX15, PAH, SKIV2L, SLC12A1

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ?PRUNE BELLY SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOTONIC DYSTROPHY 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GAUCHER DISEASE, PERINATAL LETHAL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ICHTHYOSIS, X-LINKED, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, VISCERAL MYOPATHY, RENAL ADYSPLASIA, VESICOURETERAL REFLUX 3, EHLERS-DANLOS SYNDROME, TYPE VI, RENAL TUBULAR DYSGENESIS, MEIER-GORLIN SYNDROME 1, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, METATROPIC DYSPLASIA, PREIMPLANTATION EMBRYONIC LETHALITY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DIAPHANOSPONDYLODYSOSTOSIS, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FIBROCHONDROGENESIS 1, SERKAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

CALM1, SOX9, GPC3, ALPL, TRPV4, ITGA8, ERBB3, ACE, MAP2K2, COL5A1, FLT4, UBA1, TLE6, NOS3, PTH1R, TAZ, COL11A1, RYR1, PPARG, ASCC1, ORC1, PPP1R3A, COL1A2, IGF2, SOX17, COL1A1, CBL, TNNT2, TRIP4, PLOD1, MYH7, COL2A1, GBA, NPHS1, MYCN, SOX18, FBN1, CLASP1, RET, EP300, FGFR3, FOXF1, SNAP25, HRAS, GATA6, EFEMP2, BMPER, WNT4, TSHR, STS, MUSK, MYH11, ALB, AGT, CHRM3, AMER1, ITGA6, CNTNAP1, FLNB, DMPK

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ATELOSTEOGENESIS, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 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, RUBINSTEIN-TAYBI SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

ACTA1, COL3A1, EFEMP2, AGT, PPARG, MUSK, ERBB3, ACE, NOS3, EP300, COL1A2, FLNB, HRAS

INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, 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}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, 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, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?RENAL HYPODYSPLASIA/APLASIA 2, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, SERKAL SYNDROME

CALM1, ACE, GPC3, FGFR3, ITGA8, LMNA, MAP2K2, ALB, IGF2, ITGB4, FLT4, NOS3, MYCN, AGT, PPARG, AGTR1, COL1A2, IL1RN, CBL, ITGA6, FGF20, NPHS1, GATA6, FBN1, COL1A1, DNM2, FOXF1, HRAS, BMPER, MUSK, MYH11, ADCY6, BRAF, COL2A1, WNT4

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MYOTONIC DYSTROPHY 1, RENAL ADYSPLASIA, VESICOURETERAL REFLUX 3, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MEIER-GORLIN SYNDROME 1, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, TRICHOHEPATOENTERIC SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EPILEPSY, PYRIDOXINE-DEPENDENT, NEPHRONOPHTHISIS 2, INFANTILE, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, PREIMPLANTATION EMBRYONIC LETHALITY, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

CALM1, SOX9, GPC3, ALPL, INVS, ERBB3, CBL, COL1A1, IGF2, TLE6, NOS3, ALDH7A1, MYCN, AGT, SKIV2L, PPARG, ORC1, ASCC1, CRB2, UBA1, SOX17, REN, KIF5C, NPHP3, NPHS1, GATA6, FBN1, RET, EP300, COL1A2, FOXF1, HRAS, EFEMP2, BMPER, MUSK, NEB, COL2A1, DMPK

?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CODAS SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIAMOND-BLACKFAN ANEMIA 7, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?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, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ?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, 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, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, SERKAL SYNDROME

ACTA1, CALM1, ACE, ALPL, CHRNE, ERBB3, SOX9, COL1A1, ADCY6, F5, IGF2, ITGB4, FLT4, COL3A1, MYCN, AGT, RYR1, PPARG, RAPSN, CHRNA1, NOS3, MEGF10, LONP1, ITGA6, KLF1, CBL, NPHS1, RPL11, GATA6, FBN1, RET, EP300, PEX19, SNAP25, HRAS, COL1A2, EFEMP2, BMPER, TSHR, MUSK, MYH11, ALB, BRAF, CHRM3, COL2A1, ACTG2, WNT4

?PRUNE BELLY SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, 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, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, ?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, MYOTUBULAR MYOPATHY, X-LINKED, BETHLEM MYOPATHY 1, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, 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, ADAMS-OLIVER SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, RENAL TUBULAR DYSGENESIS, OPSISMODYSPLASIA

ACTA1, CALM1, SOX9, RET, FBLN5, ERBB3, MYH7, COL1A1, ALB, F5, IGF2, ITGB4, FLT4, NOS3, GATA6, AGT, PPARG, SLC9A3, AGTR1, COL1A2, COL6A1, INPPL1, KIF5C, DOCK6, COL2A1, KLF1, CBL, NPHS1, CLASP1, DNM2, EP300, HRAS, EFEMP2, TSHR, MUSK, MYH11, ADCY6, BRAF, CHRM3, ITGA6

CHONDRODYSPLASIA, BLOMSTRAND TYPE, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RENAL TUBULAR DYSGENESIS, RUBINSTEIN-TAYBI SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SERKAL SYNDROME, SMITH-LEMLI-OPITZ SYNDROME

ACE, POR, AGT, WNT4, PPARG, PTH1R, ALB, DHCR7, EP300, IGF2, REN, NOS3

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LOWE SYNDROME, 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, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOTONIC DYSTROPHY 1, PYRUVATE KINASE DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, 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, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OPSISMODYSPLASIA, 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, OSTEOGENESIS IMPERFECTA, TYPE II, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, SERKAL SYNDROME

ACTA1, CALM1, SHOC2, ERBB3, COL1A1, NOS3, AGT, TPM3, NEB, RAPSN, ASCC1, PKLR, INPPL1, DMPK, CBL, SCARF2, NPHS1, CLASP1, DNM2, EP300, COL1A2, HRAS, BMPER, WNT4, TSHR, MUSK, CHRM3, BRAF, OCRL

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, 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, MARFAN LIPODYSTROPHY SYNDROME, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, 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, PYRUVATE KINASE 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, RENAL TUBULAR DYSGENESIS, MYOTUBULAR MYOPATHY, X-LINKED, THANATOPHORIC DYSPLASIA, TYPE I, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, CONGENITAL, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, TRICHOHEPATOENTERIC SYNDROME 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, 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, 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, SERKAL SYNDROME

ACTA1, CALM1, ACE, GPC3, CHRNE, FGFR3, REN, ERBB3, SOX9, MAP2K2, ALB, SHOC2, FLT4, ITGB4, IGF2, COL3A1, MYCN, AGT, SKIV2L, PPARG, ASCC1, AGTR1, NEU1, CHRNA1, NOS3, IL1RN, ITGA8, CBL, COL2A1, LMNA, FGF20, NPHS1, GATA6, FBN1, DNM1L, COL1A1, DNM2, EP300, COL1A2, FOXF1, HRAS, BMPER, TSHR, MUSK, MYH11, ADCY6, BRAF, CHRM3, PKLR, ITGA6, SLC9A3, SF3B4, WNT4

CHONDRODYSPLASIA, BLOMSTRAND TYPE, OPSISMODYSPLASIA, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?PRUNE BELLY SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RENAL TUBULAR DYSGENESIS

CALM1, ACE, CBL, NPHS1, REN, PPARG, PTH1R, AGT, CHRM3, NOS3, NEU1, IGF2, SF3B4, INPPL1

YUNIS-VARON SYNDROME, ?PRUNE BELLY SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, LOWE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, ACHONDROGENESIS IB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PYRUVATE KINASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, SCHNECKENBECKEN DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, OPSISMODYSPLASIA, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CODAS SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE II, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14

ACTA1, CALM1, GLE1, PIGN, SLC26A2, CBL, COL1A1, PIGA, PNPO, IGF2, NOS3, GMPPB, TAZ, AGT, PMM2, PPARG, PKLR, HADHA, INPPL1, MYH7, LONP1, SLC35D1, NPHS1, COX15, EP300, PEX19, HRAS, PIGY, TSHR, OCRL, ADCY6, CHRM3, MTM1, HADHB, FIG4

BARTTER SYNDROME, TYPE 4B, DIGENIC, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, NEPHROTIC SYNDROME, TYPE 1, BARTTER SYNDROME, TYPE 1, LONG QT SYNDROME 15, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, RENAL TUBULAR DYSGENESIS, BARTTER SYNDROME, TYPE 2, RUBINSTEIN-TAYBI SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, TRANSALDOLASE DEFICIENCY

CALM1, KCNJ1, AGT, NPHS1, TALDO1, SLC12A1, CLCNKB, SLC26A3, BSND, CLCNKA, EP300, NOS3

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MYOTUBULAR MYOPATHY, X-LINKED, ?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, 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, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, TRIFUNCTIONAL PROTEIN DEFICIENCY, FEINGOLD 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, 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, ?RENAL HYPODYSPLASIA/APLASIA 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COLE-CARPENTER SYNDROME 2, TRICHOHEPATOENTERIC SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, 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, 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, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1

ACTA1, CALM1, ACE, RET, ALPL, CHRNE, FGFR3, REN, ERBB3, SOX9, MAP2K2, BRAF, SEC24D, COL5A2, FLT4, IGF2, COL3A1, F5, MYCN, BUB1B, RYR1, PPARG, CHRNA1, NOS3, COL6A1, IL1RN, HADHA, INPPL1, DMPK, FLNB, CBL, ITGA6, KLF1, FGF20, RPL11, NPHS1, GATA6, CLASP1, STRADA, ALB, COL1A1, DNM2, EP300, PEX19, FOXF1, ATP6V0A2, HRAS, COL1A2, EFEMP2, POR, TSHR, MUSK, MYH11, ADCY6, AGT, CHRM3, PKLR, COL2A1, SKIV2L, SLC26A3, PAH, SF3B4, TPM3

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, BOHRING-OPITZ SYNDROME, MEIER-GORLIN SYNDROME 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, VISCERAL MYOPATHY, RENAL ADYSPLASIA, 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, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, METATROPIC DYSPLASIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, EHLERS-DANLOS SYNDROME, TYPE IV, GAUCHER DISEASE, PERINATAL LETHAL, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1

ACTA1, CALM1, ACE, GPC3, DOK7, CHRNE, TRPV4, REN, ERBB3, SOX9, MAP2K2, BRAF, EP300, ORC1, ASXL1, SHOC2, FLT4, AGTR1, IGF2, COL3A1, MYCN, ALPL, ALB, BUB1B, MBTPS2, RYR1, PPARG, NOS3, HRAS, COL6A1, IL1RN, CBL, TRIP4, MEGF10, ITGA6, LMNA, GBA, RPL11, NPHS1, GATA6, CLASP1, STRADA, DNM1L, COL1A1, DNM2, RET, FGFR3, COL1A2, FOXF1, SNAP25, FKBP14, RPS19, TSHR, MUSK, MYH11, ADCY6, AGT, CHRM3, COL2A1, SKIV2L, FLNB, SF3B4, POR

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, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS

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

YUNIS-VARON SYNDROME, ?PRUNE BELLY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, 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, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?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, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, DIAPHANOSPONDYLODYSOSTOSIS, 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, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, CONGENITAL, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, METATROPIC DYSPLASIA, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, GENITOPATELLAR SYNDROME, PREIMPLANTATION EMBRYONIC LETHALITY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, COLE-CARPENTER SYNDROME 2, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, MYOTUBULAR MYOPATHY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, NEPHRONOPHTHISIS 2, INFANTILE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, SERKAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, GPC3, ALPL, CHRNE, TRPV4, REN, ERBB3, SEC24D, COL1A1, EP300, ALB, FLT4, AGTR1, NPHP3, TLE6, COL3A1, MYCN, AGT, BRAF, PPARG, SLC9A3, INVS, CHRNA1, NOS3, UBA1, SOX17, ITGA8, KIF5C, CBL, CNTNAP1, LMNA, NPHS1, GATA6, CLASP1, IGF2, KAT6B, FBN1, DNM2, RET, FGFR3, COL1A2, FOXF1, HRAS, EFEMP2, BMPER, WNT4, TSHR, MUSK, MYH11, ADCY6, CNTN1, CHRM3, ASCC1, ITGA6, MEGF10, SNAP25, SF3B4, COL2A1, FIG4

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, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LYMPHEDEMA, HEREDITARY, IA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, VESICOURETERAL REFLUX 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, NEPHRONOPHTHISIS 2, INFANTILE, RENAL TUBULAR DYSGENESIS, SERKAL SYNDROME

ACTA1, CALM1, SOX9, ALPL, INVS, CBL, COL1A1, FLT4, COL1A2, MYCN, AGT, SOX17, NPHP3, GPC3, EP300, HRAS, TSHR, MUSK, FGFR3, AMER1, COL2A1, WNT4

THANATOPHORIC DYSPLASIA, TYPE I, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, THANATOPHORIC DYSPLASIA, TYPE II, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?RENAL HYPODYSPLASIA/APLASIA 2, RENAL TUBULAR DYSGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, {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, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

ACTA1, CALM1, ACE, EP300, BRAF, AGT, FGFR3, SOX9, ERBB3, CBL, ADCY6, FGF20, MAP2K2, CLASP1, SHOC2, NOS3, IGF2, FOXF1, HRAS

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?PRUNE BELLY SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, EPILEPSY, PYRIDOXINE-DEPENDENT, LOWE SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NIEMANN-PICK DISEASE TYPE C1, BARTTER SYNDROME, TYPE 2, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, NIEMANN-PICK DISEASE, TYPE C2, GREENBERG SKELETAL DYSPLASIA, 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, PYRUVATE KINASE DEFICIENCY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NEU-LAXOVA SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE II, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, RENAL TUBULAR DYSGENESIS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SMITH-LEMLI-OPITZ SYNDROME

ACTA1, CALM1, SOX9, F5, REN, GLE1, COL1A1, DHCR7, ALB, PIGA, PNPO, LBR, PKLR, ALDH7A1, PTH1R, AGT, RYR1, PPARG, CHRM3, NOS3, CHRNA1, EBP, HRAS, INPPL1, PSAT1, KCNJ1, GBA, CPT1A, NPHS1, GATA6, EP300, PEX19, MBTPS2, NPC1, TSHR, POR, OCRL, ADCY6, NPC2, BRAF, PAH

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, FEINGOLD SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?RENAL HYPODYSPLASIA/APLASIA 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OPSISMODYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

CALM1, SOX9, FGFR3, ERBB3, ACE, NOS3, MYCN, ASCC1, COL1A2, UBA1, INPPL1, FGF20, GATA6, CLASP1, GPC3, EP300, FOXF1, HRAS, BMPER, TSHR, POR, MUSK, MYH11, COL2A1

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, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, 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, ?MECKEL SYNDROME 12, RENAL ADYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, SERKAL SYNDROME

CALM1, SOX9, ALPL, ITGA8, ERBB3, MAP2K2, FLT4, CLASP1, NOS3, MYCN, AGT, PPARG, ASCC1, COL1A2, COL1A1, KIF14, ITGA6, NPHS1, GATA6, PIEZO1, FBN1, RET, EP300, FOXF1, HRAS, BMPER, TSHR, MUSK, IL1RN, BRAF, COL2A1, SF3B4, WNT4

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NEMALINE MYOPATHY 9, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OSTEOGENESIS IMPERFECTA, TYPE II, VESICOURETERAL REFLUX 3, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CAUDAL REGRESSION SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?RENAL HYPODYSPLASIA/APLASIA 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RUBINSTEIN-TAYBI SYNDROME 2, RENAL TUBULAR DYSGENESIS

KLHL41, MEGF10, AGT, MUSK, ERBB3, SOX9, CLASP1, FGF20, EP300, NOS3, COL2A1, COL1A2, SOX17, IGF2, SF3B4, VANGL1, HRAS, GATA6

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, 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, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, 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, MYOTONIC DYSTROPHY 1, PYRUVATE KINASE DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?MECKEL SYNDROME 12, 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, LOWE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OPSISMODYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, EHLERS-DANLOS SYNDROME, TYPE IV, METATROPIC DYSPLASIA, CAUDAL REGRESSION SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, 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, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, RET, FGFR3, REN, ERBB3, LMNA, COL1A1, F5, COL3A1, PTH1R, FBLN5, BUB1B, SKIV2L, PPARG, AGTR1, RAPSN, ASCC1, NOS3, UBA1, SOX17, VANGL1, KIF14, INPPL1, DMPK, CBL, CNTNAP1, SCARF2, NPHS1, MYCN, CLASP1, WNT4, FBN1, DNM2, EP300, SNAP25, HRAS, EFEMP2, BMPER, TSHR, POR, MUSK, TRPV4, ADCY6, AGT, CHRM3, PKLR, COL2A1, ACTG2, SF3B4, OCRL