PRENATAL MANIFESTATIONS

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, KEUTEL SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, DIAPHANOSPONDYLODYSOSTOSIS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MARFAN LIPODYSTROPHY SYNDROME

EFEMP2, BMPER, COL11A1, COL3A1, SOX9, FBN1, MGP, COL5A2, COL2A1, COL1A1, COL5A1, COL1A2

ARTHROGRYPOSIS, DISTAL, TYPE 5D, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, CODAS SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CARDIOFACIOCUTANEOUS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIC, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, METATROPIC DYSPLASIA, 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, MARFAN LIPODYSTROPHY SYNDROME, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, SERKAL SYNDROME

CALM1, ACE, ECEL1, REN, COL1A1, F5, TRPV4, IGF2, FLT4, NOS3, MYCN, AGT, PPARG, HRAS, IL1RN, FBLN5, CBL, LONP1, BRAF, SPINT2, NPHS1, ZMPSTE24, FBN1, NEU1, COL1A2, FKBP14, ADAMTS2, BMPER, MBTPS2, TSHR, WNT4, MYH11, ALB, COL2A1

?PRUNE BELLY SYNDROME, 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, BARTTER SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CARDIOFACIOCUTANEOUS SYNDROME, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LYMPHEDEMA, HEREDITARY, III, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ESCOBAR SYNDROME

CALM1, EFEMP2, ALPL, PIEZO1, CHRND, KCNJ1, CNTN1, MUSK, TRPV4, CHRNA1, ADCY6, CHRNE, CHRM3, CHRNG, ALB, BRAF, AGT, HRAS, SNAP25, RYR1, NOS3

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

COL1A1, COL3A1, COL6A1, FBLN5, AGT, ITGA8, FBN1, COL2A1, ALB, ITGA6, COL1A2, COL5A1, ITGB4, FLT4, NOS3

COLE-CARPENTER SYNDROME 2, PREIMPLANTATION EMBRYONIC LETHALITY, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, HYPERTHYROIDISM, NONAUTOIMMUNE, BOHRING-OPITZ SYNDROME, MYOTONIC DYSTROPHY 1, 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, NIEMANN-PICK DISEASE TYPE C1, NOONAN SYNDROME 8, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 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, TRIFUNCTIONAL PROTEIN DEFICIENCY, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, 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, CHONDRODYSPLASIA, BLOMSTRAND TYPE, 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, MARFAN LIPODYSTROPHY SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TRANSALDOLASE DEFICIENCY, LOWE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OPSISMODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MEIER-GORLIN SYNDROME 1, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, METATROPIC DYSPLASIA, CAUDAL REGRESSION SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, ?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, MYOTUBULAR MYOPATHY, X-LINKED, 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, CODAS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, VISCERAL MYOPATHY

ACTA1, CALM1, SOX9, NEK8, TLE6, IL1RN, REN, ERBB3, ACE, COL1A1, BRAF, HADHB, SEC24D, ASXL1, SHOC2, FLT4, RET, PEX19, NOS3, PPARG, PTH1R, CHRM3, DOK7, BUB1B, POR, RYR1, EPHX1, MYH11, ORC1, RAPSN, AGTR1, ASCC1, HRAS, IGF2, ALB, VANGL1, CNTN1, ITGA8, INPPL1, DMPK, MEGF10, PPP1R3A, LONP1, SLC9A3, WDR62, CBL, NPHS1, RPL11, MYCN, FBN1, TALDO1, DNM1L, MAP2K2, DNM2, EP300, RIT1, FLNB, NPC1, GATA6, EFEMP2, ALPL, RPS19, TSHR, SNAP25, MUSK, TRPV4, STRADA, ADCY6, AGT, NPC2, OCRL, ITGA6, COL2A1, F5, CRB2, ACTG2, SF3B4, TPM3

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ESCOBAR SYNDROME, LONG QT SYNDROME 15, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOTONIC DYSTROPHY 1, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, BARTTER SYNDROME, TYPE 2, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, {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, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8

ACTA1, CALM1, EFEMP2, KCNJ1, RYR1, CNTN1, MUSK, ADCY6, CHRNE, CHRNA1, CHRNG, NOS3, CHRND, AGT, AGTR1, KIF5C, DMPK, HRAS

{PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RENAL TUBULAR DYSGENESIS

AGT, ACE, AGTR1

THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, MARFAN LIPODYSTROPHY SYNDROME, RENAL ADYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

AGT, FGFR3, MUSK, ERBB3, FBN1, RET, IGF2, SF3B4, FLT4, HRAS

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, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, RENAL TUBULAR DYSGENESIS, MYOTUBULAR MYOPATHY, X-LINKED, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?RENAL HYPODYSPLASIA/APLASIA 2, SERKAL SYNDROME

ACTA1, CALM1, ACE, COL1A1, ITGB4, NOS3, GATA6, AGT, RYR1, PPARG, AGTR1, COL1A2, SLC9A3, FGF20, NPHS1, DNM2, EP300, HRAS, TSHR, MUSK, TRPV4, ALB, COL2A1, WNT4

?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, TRICHOHEPATOENTERIC SYNDROME 1, 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, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MYOTONIC DYSTROPHY 1, 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, BETHLEM MYOPATHY 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, GPC3, REN, ERBB3, COL1A1, F5, IGF2, NOS3, TTC37, AGT, DMPK, PPARG, PPP1R3A, PKLR, COL6A3, CBL, SPINT2, SCARF2, CLASP1, DNM2, EP300, COL1A2, HRAS, BMPER, RPS19, IL1RN, ALB, CHRM3, COL2A1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], GLYCOGEN STORAGE DISEASE IV, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, THANATOPHORIC DYSPLASIA, TYPE II, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, BARTTER SYNDROME, TYPE 2, BARTH SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MYOTONIC DYSTROPHY 1, CEREBROCOSTOMANDIBULAR SYNDROME, 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, CARDIOFACIOCUTANEOUS SYNDROME, MEIER-GORLIN SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, NIEMANN-PICK DISEASE TYPE C1, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, OPSISMODYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NOONAN SYNDROME 8, SPINAL MUSCULAR ATROPHY-1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, LYMPHEDEMA, HEREDITARY, IA, LOWE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, TRIFUNCTIONAL PROTEIN DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NEPHROTIC SYNDROME, TYPE 1, ?MECKEL SYNDROME 12, VISCERAL MYOPATHY, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MUSCULAR DYSTROPHY, CONGENITAL, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PERLMAN SYNDROME, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, BARTTER SYNDROME, TYPE 4B, DIGENIC, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, 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, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, METATROPIC DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CODAS SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1

CALM1, LMNA, NEU1, COL1A1, ORC1, LBR, DNM2, COL1A2, AGT, PPARG, AGTR1, PNPO, UBA1, REN, MYH7, IBA57, CLASP1, NEK8, NPC1, POR, OCRL, ADCY6, SLC9A3, SF3B4, ACTA1, PLOD1, SOX9, FGFR3, GBE1, ERBB3, CBL, ABCA12, CLCNKA, IGF2, PKLR, MYCN, BUB1B, SKIV2L, HADHA, KIF5C, MEGF10, LONP1, KCNJ1, DNM1L, EP300, TNNT2, CLCNKB, ATP8B1, BRAF, SNAP25, DIS3L2, ALPL, KIF14, ACE, FLT4, RIT1, TSFM, GMPPB, TAZ, CNTN1, SNRPB, RAPSN, INPPL1, KLF1, NPHS1, ABCB4, MAP2K2, BSND, RPS19, MUSK, TRPV4, CHRM3, PAH, GLE1, IGHMBP2, HSD17B4, ITGB4, GATA6, DMPK, NEK1, NOS3, RPL11, STRADA, RET, PEX19, ACTG2, HRAS, SARS2, MYH11, ALDH18A1, FLNB, HADHB

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], GLYCOGEN STORAGE DISEASE IV, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, THANATOPHORIC DYSPLASIA, TYPE II, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, BARTTER SYNDROME, TYPE 2, BARTH SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MYOTONIC DYSTROPHY 1, CEREBROCOSTOMANDIBULAR SYNDROME, 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, CARDIOFACIOCUTANEOUS SYNDROME, MEIER-GORLIN SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, NIEMANN-PICK DISEASE TYPE C1, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, OPSISMODYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NOONAN SYNDROME 8, SPINAL MUSCULAR ATROPHY-1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, LYMPHEDEMA, HEREDITARY, IA, LOWE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, TRIFUNCTIONAL PROTEIN DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NEPHROTIC SYNDROME, TYPE 1, ?MECKEL SYNDROME 12, VISCERAL MYOPATHY, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MUSCULAR DYSTROPHY, CONGENITAL, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PERLMAN SYNDROME, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, BARTTER SYNDROME, TYPE 4B, DIGENIC, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, 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, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, METATROPIC DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CODAS SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1

CALM1, LMNA, NEU1, COL1A1, ORC1, LBR, DNM2, COL1A2, AGT, PPARG, AGTR1, PNPO, UBA1, REN, MYH7, IBA57, CLASP1, NEK8, NPC1, POR, OCRL, ADCY6, SLC9A3, SF3B4, ACTA1, PLOD1, SOX9, FGFR3, GBE1, ERBB3, CBL, ABCA12, CLCNKA, IGF2, PKLR, MYCN, BUB1B, SKIV2L, HADHA, KIF5C, MEGF10, LONP1, KCNJ1, DNM1L, EP300, TNNT2, CLCNKB, ATP8B1, BRAF, SNAP25, DIS3L2, ALPL, KIF14, ACE, FLT4, RIT1, TSFM, GMPPB, TAZ, CNTN1, SNRPB, RAPSN, INPPL1, KLF1, NPHS1, ABCB4, MAP2K2, BSND, RPS19, MUSK, TRPV4, CHRM3, PAH, GLE1, IGHMBP2, HSD17B4, ITGB4, GATA6, DMPK, NEK1, NOS3, RPL11, STRADA, RET, PEX19, ACTG2, HRAS, SARS2, MYH11, ALDH18A1, FLNB, HADHB

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], GREENBERG SKELETAL DYSPLASIA, MEIER-GORLIN SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, 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, TRIFUNCTIONAL PROTEIN DEFICIENCY, CUTIS LAXA, AUTOSOMAL DOMINANT 3, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, CEREBROCOSTOMANDIBULAR SYNDROME, VISCERAL MYOPATHY, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, TRICHOHEPATOENTERIC SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, RUBINSTEIN-TAYBI SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CODAS SYNDROME, EPILEPSY, PYRIDOXINE-DEPENDENT, 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

CALM1, ACE, F5, ALPL, REN, SOX9, COL1A1, DHCR7, SNRPB, HSD17B4, LBR, AGTR1, ITGB4, NOS3, ALDH7A1, GATA6, GMPPB, AGT, TPM3, PPARG, ORC1, HRAS, ALB, HADHA, FBLN5, HADHB, PLOD1, LONP1, LMNA, PNPO, COX15, RET, EP300, COL1A2, FKBP14, EFEMP2, RPS19, POR, MYH11, ALDH18A1, BRAF, SKIV2L, PAH, DMPK

BETHLEM MYOPATHY 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LONG QT SYNDROME 15, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, DIAPHANOSPONDYLODYSOSTOSIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

CALM1, COL1A2, BMPER, GPC3, CNTN1, PLEC, ERBB3, CLASP1, COL1A1, AGT, ASCC1, COL5A1, COL6A1, IGF2, NOS3

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 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, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MARFAN LIPODYSTROPHY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2

ACTA1, CALM1, SOX9, FBLN5, ERBB3, ACE, COL1A1, AGTR1, IGF2, NOS3, AGT, PPARG, COL5A1, ASCC1, COL1A2, FBN1, RET, HRAS, BMPER, TSHR, MUSK, IL1RN, ALB, COL2A1

D-BIFUNCTIONAL PROTEIN DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY

HADHB, HADHA, HSD17B4

THANATOPHORIC DYSPLASIA, TYPE II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THANATOPHORIC DYSPLASIA, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, TYPE VI, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MARFAN LIPODYSTROPHY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV

CALM1, PLOD1, COL2A1, RPS19, AGT, MYH11, COL3A1, TSHR, ERBB3, CLASP1, COL1A1, FBN1, COL6A1, COL1A2, HRAS, FGFR3, IGF2, COL5A1, SF3B4, FLT4, NOS3

MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MARFAN LIPODYSTROPHY SYNDROME, 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, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, METATROPIC DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, KEUTEL SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1

ACTA1, CALM1, SOX9, RET, TRPV4, PLEC, LMNA, MAP2K2, BRAF, COL5A2, FLT4, ITGB4, COL3A1, CNTN1, MYCN, GMPPB, COL11A1, RYR1, PPARG, COL5A1, NOS3, TNNT2, CBL, COL2A1, RPL11, NPHS1, FBN1, TALDO1, COL1A1, DNM2, EP300, COL1A2, HRAS, EFEMP2, BMPER, RPS19, MGP, MUSK, MYH11, AGT, NEB, ITGA6, SF3B4

COLE-CARPENTER SYNDROME 2, GLYCOGEN STORAGE DISEASE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOTONIC DYSTROPHY 1, 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, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, VISCERAL MYOPATHY, 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, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, CONGENITAL, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OPSISMODYSPLASIA, VAN DEN ENDE-GUPTA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, ACE, MYH11, GBE1, LMNA, FLT4, ITGB4, NOS3, GATA6, AGT, TPM3, PPARG, RAPSN, PLEC, INPPL1, DMPK, KIF5C, MYH7, CBL, SCARF2, CLASP1, DNM2, FLNB, HRAS, TNNT2, SEC24D, TRPV4, ALB, NEB, ITGA6, ACTG2, SF3B4, RYR1

GLYCOGEN STORAGE DISEASE IV, THANATOPHORIC DYSPLASIA, TYPE II, GAUCHER DISEASE, PERINATAL LETHAL, PYRUVATE KINASE DEFICIENCY, BARTH SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, MEIER-GORLIN SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NEU-LAXOVA SYNDROME 2, PETERS-PLUS SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, 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, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, YUNIS-VARON SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MYOTONIC DYSTROPHY 1, OPSISMODYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE II, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NOONAN SYNDROME 8, TRICHOHEPATOENTERIC SYNDROME 1, MUSCULAR DYSTROPHY, CONGENITAL, DIAMOND-BLACKFAN ANEMIA 7, TRIFUNCTIONAL PROTEIN DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, VISCERAL MYOPATHY, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, GENITOPATELLAR SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, SECKEL SYNDROME 9, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME, TYPE IV, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RENAL ADYSPLASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, CAUDAL REGRESSION SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CPT II DEFICIENCY, LETHAL NEONATAL, DIAMOND-BLACKFAN ANEMIA 1

CALM1, LMNA, NEU1, TRAIP, COL1A1, CPT2, NEK1, F5, LBR, DNM2, COL3A1, B3GLCT, AGT, PPARG, AGTR1, UBA1, VANGL1, MYH7, ALG1, IBA57, CLASP1, NEK8, SLC9A3, SF3B4, FIG4, ACTA1, SOX9, GBE1, ERBB3, MAP2K2, IGF2, PKLR, MYCN, TTC37, BUB1B, TPM3, HADHA, KIF5C, CBL, COL2A1, TALDO1, KAT6B, EP300, FKBP14, TSHR, TNNT2, BRAF, PIGA, RET, ALPL, FLT4, RIT1, GMPPB, TAZ, CNTN1, INPPL1, KLF1, NPHS1, FBN1, ABCB4, COX15, PSAT1, RPS19, MUSK, FGFR3, SKIV2L, GLE1, PIGN, ALDH18A1, HSD17B4, DHCR7, DMPK, ORC1, NOS3, GBA, CPT1A, RPL11, ZMPSTE24, STRADA, GPC3, PEX19, FLNB, HRAS, SARS2, MYH11, ALB, ISPD, HADHB

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

CHRNE, CHRNA1, CHRNG, CHRND

?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, 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}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, 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, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, METATROPIC DYSPLASIA, 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, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, 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, KEUTEL SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, ALPL, TRPV4, ITGA8, ERBB3, MEGF10, COL1A1, BRAF, SEPN1, F5, FLT4, ITGB4, IGF2, NOS3, GATA6, GMPPB, AGT, RYR1, PPARG, CHRM3, AGTR1, ASCC1, HRAS, UBA1, IL1RN, FBLN5, MYH7, SLC9A3, CBL, SCARF2, NPHS1, CLASP1, FBN1, RET, FGFR3, PEX19, FKBP14, COL1A2, EFEMP2, BMPER, TSHR, TNNT2, MYH11, ALB, MGP, NEB, ITGA6, COL2A1, SKIV2L, CRB2, SNAP25, TPM3

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ?PRUNE BELLY SYNDROME, HYPOPHOSPHATASIA, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, 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, NIEMANN-PICK DISEASE TYPE C1, SIALIC ACID STORAGE DISORDER, INFANTILE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, {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, 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, DIAMOND-BLACKFAN ANEMIA 7, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYOTONIC DYSTROPHY 1, PYRUVATE KINASE DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CEREBROCOSTOMANDIBULAR SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, 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, COLE-CARPENTER SYNDROME 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, ACHONDROGENESIS IB, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, 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, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, 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, ?MYASTHENIC SYNDROME, CONGENITAL, 18, BARTTER SYNDROME, TYPE 1, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LYMPHEDEMA, HEREDITARY, III, ?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, 14, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME

ACTA1, CALM1, GLE1, ALPL, CHRNE, TRPV4, REN, ERBB3, SEC24D, ABCA12, BRAF, ATP8B1, CLCNKA, CHRNG, SNRPB, F5, IGF2, AGTR1, PKLR, PTH1R, GMPPB, KCNJ1, AGT, RYR1, PPARG, CHRNA1, NOS3, ASCC1, NPC1, ALB, SLC26A2, FLVCR2, DMPK, KIF5C, SLC17A5, CHRND, KLF1, SLC35D1, RPL11, EBP, PIEZO1, ABCB4, SLC26A3, CLCNKB, COX15, SOX9, EP300, PEX19, ATP6V0A2, BSND, EFEMP2, TSHR, TNNT2, MUSK, MYH11, TALDO1, ADCY6, CNTN1, CHRM3, SLC9A3, HRAS, SNAP25, SF3B4, SKIV2L, SLC12A1

COLE-CARPENTER SYNDROME 2, ?PRUNE BELLY SYNDROME, HYPOPHOSPHATASIA, INFANTILE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, 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, 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, TRIFUNCTIONAL PROTEIN DEFICIENCY, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?MECKEL SYNDROME 12, 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, OPSISMODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, ?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), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VII, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

ACTA1, CALM1, ACE, RET, DOK7, TRPV4, FBLN5, ERBB3, SOX9, COL1A1, BRAF, SEC24D, PLEC, GPC3, FLT4, AGTR1, ITGB4, IGF2, COL3A1, SLC9A3, MYCN, CRTAP, MTM1, KIF14, BUB1B, RYR1, PPARG, CHRM3, COL5A1, NOS3, COL6A1, HADHA, ITGA8, INPPL1, HADHB, KIF5C, CBL, ITGA6, LMNA, SCARF2, CLASP1, ALPL, FBN1, DNM2, EP300, PEX19, HRAS, COL1A2, TSHR, MUSK, MYH11, ALB, AGT, NEB, COL2A1, SNAP25, SF3B4, DMPK

MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, NOONAN SYNDROME 8, HYPOPHOSPHATASIA, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MEIER-GORLIN SYNDROME 1, BARTH SYNDROME, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), MYOTONIC DYSTROPHY 1, TRICHOHEPATOENTERIC SYNDROME 2, LOWE SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, GLYCOGEN STORAGE DISEASE IV, 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, PERLMAN SYNDROME, BARTTER SYNDROME, TYPE 2, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, 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, THANATOPHORIC DYSPLASIA, TYPE I, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, CEREBROCOSTOMANDIBULAR SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, 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, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?MECKEL SYNDROME 12, METATROPIC DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, 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, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BARTTER SYNDROME, TYPE 4B, DIGENIC, OPSISMODYSPLASIA, SPINAL MUSCULAR ATROPHY-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CODAS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, ?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, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, GLE1, HSD17B4, NEK8, ALPL, TRPV4, KIF14, ERBB3, ACE, ABCA12, BRAF, EP300, CLCNKA, MYH7, ORC1, GBE1, AGT, LBR, FLT4, AGTR1, ITGB4, RIT1, PKLR, GATA6, GMPPB, KLF1, TAZ, BUB1B, SKIV2L, SOX9, PPARG, NEK1, RAPSN, NOS3, DIS3L2, NPC1, IGF2, MUSK, COL1A1, REN, INPPL1, KIF5C, FLNB, IGHMBP2, LONP1, UBA1, KCNJ1, CBL, RPL11, NPHS1, MYCN, CLASP1, ABCB4, CLCNKB, SNRPB, DNM1L, MAP2K2, DNM2, RET, FGFR3, PEX19, ATP8B1, SNAP25, BSND, SARS2, RPS19, TNNT2, OCRL, MYH11, ADCY6, ALDH18A1, CNTN1, CHRM3, STRADA, SLC9A3, MEGF10, HRAS, ACTG2, SF3B4, DMPK

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], GREENBERG SKELETAL DYSPLASIA, RUBINSTEIN-TAYBI SYNDROME 2, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, 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, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, LONG QT SYNDROME 15, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EHLERS-DANLOS SYNDROME, TYPE VI, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS

CALM1, PLOD1, GATA6, KLF1, BRAF, POR, AGT, PPARG, LMNA, ALB, LBR, COL1A2, F5, EP300, COL1A1, ITGB4, PAH, NOS3

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ESCOBAR SYNDROME, LONG QT SYNDROME 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RENAL TUBULAR DYSGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2

CALM1, KIF5C, CHRNE, MUSK, AGTR1, CHRNA1, CHRNG, CHRND, NOS3

MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, HYPOPHOSPHATASIA, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), MYOTONIC DYSTROPHY 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, GLYCOGEN STORAGE DISEASE IV, 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, PERLMAN SYNDROME, BARTTER SYNDROME, TYPE 2, CARDIOFACIOCUTANEOUS SYNDROME, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, THANATOPHORIC DYSPLASIA, TYPE I, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, CEREBROCOSTOMANDIBULAR SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, 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, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MEIER-GORLIN SYNDROME 1, ?MECKEL SYNDROME 12, METATROPIC DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, TRICHOHEPATOENTERIC SYNDROME 2, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, 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, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OPSISMODYSPLASIA, SPINAL MUSCULAR ATROPHY-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CODAS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, ACE, HSD17B4, RET, ALPL, TRPV4, KIF14, ERBB3, SOX9, MAP2K2, ATP8B1, MYH7, ORC1, GBE1, LBR, FLT4, AGTR1, IGF2, NOS3, CNTN1, GATA6, GMPPB, KCNJ1, TAZ, BUB1B, SKIV2L, PPARG, NEK1, NEK8, RAPSN, HRAS, UBA1, MUSK, COL1A1, REN, INPPL1, KIF5C, IGHMBP2, LONP1, BRAF, KLF1, CBL, RPL11, NPHS1, MYCN, CLASP1, ABCB4, STRADA, SNRPB, ABCA12, DNM2, EP300, FGFR3, PEX19, NPC1, SARS2, RPS19, TNNT2, DIS3L2, MYH11, ADCY6, ALDH18A1, AGT, CHRM3, PKLR, SLC9A3, MEGF10, ACTG2, SF3B4, DMPK, GLE1

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 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}, TRIFUNCTIONAL PROTEIN DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 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, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MARFAN LIPODYSTROPHY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2

ACTA1, CALM1, SOX9, GPC3, FBLN5, ERBB3, ACE, COL1A1, AGTR1, IGF2, NOS3, AGT, HADHB, COL5A1, ASCC1, COL1A2, COL6A1, HADHA, KIF5C, FBN1, RET, HRAS, BMPER, TSHR, TNNT2, MUSK, ALB, COL2A1

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ESCOBAR SYNDROME, LONG QT SYNDROME 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2

CALM1, KIF5C, CHRNE, MUSK, CHRNA1, CHRNG, CHRND, NOS3

{PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RENAL TUBULAR DYSGENESIS

ACE, NOS3

?PRUNE BELLY SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, 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, BARTTER SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOTONIC DYSTROPHY 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, RUBINSTEIN-TAYBI SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, BARTTER SYNDROME, TYPE 4B, DIGENIC, 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

CALM1, ALPL, CHRNE, CLCNKA, CHRNG, ALB, F5, NOS3, KLF1, AGT, RYR1, AGTR1, CHRNA1, BSND, KIF5C, CHRND, KCNJ1, PIEZO1, CLCNKB, EP300, HRAS, EFEMP2, MUSK, TRPV4, ADCY6, CNTN1, CHRM3, BRAF, SNAP25, DMPK

COLE-CARPENTER SYNDROME 2, ?PRUNE BELLY SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, 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, BARTTER SYNDROME, TYPE 2, {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, SIALIC ACID STORAGE DISORDER, INFANTILE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BARTTER SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, METATROPIC DYSPLASIA, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ?MYASTHENIC SYNDROME, CONGENITAL, 18, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HYPERTHYROIDISM, NONAUTOIMMUNE, 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, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14

CALM1, CHRND, ALPL, CHRNE, REN, ERBB3, ATP8B1, CHRNG, ALB, NOS3, GMPPB, CNTN1, RYR1, PPARG, CHRNA1, KIF5C, SLC17A5, SLC9A3, KCNJ1, PIEZO1, TALDO1, COX15, SNAP25, HRAS, EFEMP2, TSHR, MUSK, TRPV4, ADCY6, AGT, CHRM3, BRAF, ATP6V0A2, SEC24D, SLC12A1

BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, DIAPHANOSPONDYLODYSOSTOSIS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

SOX9, BMPER, COL6A1, ERBB3, COL1A1, COL5A1, COL2A1, GPC3

?PRUNE BELLY SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, 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, BARTTER SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOTONIC DYSTROPHY 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, RUBINSTEIN-TAYBI SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, BARTTER SYNDROME, TYPE 4B, DIGENIC, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LYMPHEDEMA, HEREDITARY, III, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS

CALM1, ALPL, CHRNE, REN, CLCNKA, CHRNG, ALB, F5, NOS3, KCNJ1, CNTN1, RYR1, AGTR1, CHRNA1, BSND, KIF5C, CHRND, KLF1, PIEZO1, CLCNKB, EP300, HRAS, EFEMP2, TSHR, MUSK, TRPV4, ADCY6, AGT, CHRM3, BRAF, SNAP25, DMPK

BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, LONG QT SYNDROME 15, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RENAL ADYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}

CALM1, COL3A1, CBL, ITGA6, FBLN5, COL6A1, AGT, ITGA8, ALB, COL2A1, COL1A1, FBN1, RET, COL1A2, COL5A1, ITGB4, FLT4, NOS3

BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, 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, LONG QT SYNDROME 15, RENAL ADYSPLASIA, {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, ACE, COL6A1, TSHR, AGT, FBLN5, ERBB3, SOX9, ALB, COL1A1, AGTR1, NOS3, RET, COL1A2, IGF2, COL5A1, COL2A1, HRAS

COLE-CARPENTER SYNDROME 2, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, 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, BARTTER SYNDROME, TYPE 2, SIALIC ACID STORAGE DISORDER, INFANTILE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, ACHONDROGENESIS IB, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYOTONIC DYSTROPHY 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BARTTER SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, 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, ?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}, BARTTER SYNDROME, TYPE 4B, DIGENIC, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, 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, ESCOBAR SYNDROME

CALM1, CHRND, ALPL, CHRNE, REN, ERBB3, SEC24D, ATP8B1, CLCNKA, CHRNG, ALB, F5, NOS3, GMPPB, KCNJ1, AGT, RYR1, PPARG, AGTR1, CHRNA1, HRAS, SLC26A2, DMPK, KIF5C, SLC17A5, BRAF, KLF1, SLC35D1, PIEZO1, CLCNKB, COX15, EP300, PEX19, SNAP25, BSND, EFEMP2, TNNT2, MUSK, TRPV4, TALDO1, ADCY6, CNTN1, CHRM3, SLC9A3, SLC26A3, ATP6V0A2, SF3B4, SKIV2L, SLC12A1

COLE-CARPENTER SYNDROME 2, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, 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, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NIEMANN-PICK DISEASE TYPE C1, SIALIC ACID STORAGE DISORDER, INFANTILE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIAMOND-BLACKFAN ANEMIA 7, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYOTONIC DYSTROPHY 1, PYRUVATE KINASE DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, ACHONDROGENESIS IB, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, 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, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, 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, ?MYASTHENIC SYNDROME, CONGENITAL, 18, BARTTER SYNDROME, TYPE 1, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LYMPHEDEMA, HEREDITARY, III, ?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, 14

ACTA1, CALM1, GLE1, ALPL, CHRNE, TRPV4, REN, ERBB3, SEC24D, ABCA12, BRAF, ATP8B1, CLCNKA, CHRNG, SNRPB, F5, AGTR1, PKLR, PTH1R, GMPPB, KCNJ1, AGT, RYR1, PPARG, CHRNA1, NOS3, ASCC1, BSND, ALB, SLC26A2, DMPK, KIF5C, SLC17A5, CHRND, KLF1, SLC35D1, RPL11, PIEZO1, SLC26A3, CLCNKB, COX15, SOX9, EP300, PEX19, ATP6V0A2, NPC1, EFEMP2, TSHR, TNNT2, MUSK, MYH11, TALDO1, ADCY6, CNTN1, CHRM3, SLC9A3, HRAS, SNAP25, SF3B4, SKIV2L, SLC12A1

COLE-CARPENTER SYNDROME 2, GLYCOGEN STORAGE DISEASE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOTONIC DYSTROPHY 1, LOWE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, ATELOSTEOGENESIS, TYPE I, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?MECKEL SYNDROME 12, 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, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 10, RUBINSTEIN-TAYBI SYNDROME 2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OPSISMODYSPLASIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, VAN DEN ENDE-GUPTA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

ACTA1, CALM1, ACE, RET, TRPV4, KIF14, SEC24D, LMOD3, ALB, PLEC, FLT4, AGTR1, ITGB4, PKLR, GATA6, TAZ, BUB1B, RYR1, PPARG, NOS3, RAPSN, COL3A1, GBE1, INPPL1, DMPK, KIF5C, MYH7, SLC9A3, LMNA, CBL, SCARF2, NPHS1, CLASP1, FBN1, DNM2, EP300, FLNB, HRAS, TNNT2, SNAP25, OCRL, MYH11, ADCY6, AGT, NEB, ITGA6, ACTG2, SF3B4, TPM3

GLYCOGEN STORAGE DISEASE IV, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, THANATOPHORIC DYSPLASIA, TYPE II, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), BARTTER SYNDROME, TYPE 2, BARTH SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, CEREBROCOSTOMANDIBULAR SYNDROME, 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, CARDIOFACIOCUTANEOUS SYNDROME, MEIER-GORLIN SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, BOHRING-OPITZ SYNDROME, NIEMANN-PICK DISEASE TYPE C1, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, DIAPHANOSPONDYLODYSOSTOSIS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, TYPE IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OPSISMODYSPLASIA, VAN DEN ENDE-GUPTA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NOONAN SYNDROME 8, SPINAL MUSCULAR ATROPHY-1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MYOTONIC DYSTROPHY 1, LOWE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?MECKEL SYNDROME 12, VISCERAL MYOPATHY, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PERLMAN SYNDROME, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HYPERTHYROIDISM, NONAUTOIMMUNE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, 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, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, METATROPIC DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CODAS SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1

CALM1, DNM2, COL1A1, NEK1, F5, LBR, COL3A1, AGT, PPARG, COL5A1, ASCC1, PNPO, UBA1, REN, MYH7, SCARF2, CLASP1, NEK8, NPC1, BMPER, POR, OCRL, ADCY6, CNTNAP1, SF3B4, ACTA1, ACE, IL1RN, PLEC, ERBB3, CBL, ABCA12, GBE1, TRPV4, IGF2, PKLR, MYCN, BUB1B, RYR1, COL1A2, KIF5C, MEGF10, LONP1, COL2A1, KCNJ1, DNM1L, EP300, TSHR, TNNT2, ATP8B1, BRAF, SNAP25, DIS3L2, GPC3, ALPL, ITGA8, SOX9, AGTR1, FLT4, RIT1, GMPPB, TAZ, CNTN1, SNRPB, RAPSN, FBLN5, INPPL1, KLF1, NPHS1, FBN1, ABCB4, MAP2K2, RPS19, MUSK, FGFR3, CHRM3, ITGA6, GLE1, HSD17B4, IGHMBP2, ALB, ASXL1, KIF14, ITGB4, GATA6, DMPK, SLC9A3, ORC1, NOS3, RPL11, STRADA, RET, PEX19, ACTG2, HRAS, SARS2, MYH11, ALDH18A1, FLNB, SKIV2L

MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, HYPOPHOSPHATASIA, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), MYOTONIC DYSTROPHY 1, TRICHOHEPATOENTERIC SYNDROME 2, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, GLYCOGEN STORAGE DISEASE IV, 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, PERLMAN SYNDROME, BARTTER SYNDROME, TYPE 2, CARDIOFACIOCUTANEOUS SYNDROME, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, THANATOPHORIC DYSPLASIA, TYPE I, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, CEREBROCOSTOMANDIBULAR SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, 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, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MEIER-GORLIN SYNDROME 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?MECKEL SYNDROME 12, METATROPIC DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, 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, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BARTTER SYNDROME, TYPE 4B, DIGENIC, OPSISMODYSPLASIA, SPINAL MUSCULAR ATROPHY-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CODAS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, ?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, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, GLE1, HSD17B4, RET, ALPL, TRPV4, KIF14, ERBB3, ACE, MAP2K2, STRADA, ATP8B1, CLCNKA, MYH7, ORC1, GBE1, AGT, LBR, FLT4, AGTR1, IGF2, NOS3, GATA6, GMPPB, KCNJ1, TAZ, BUB1B, SKIV2L, SOX9, PPARG, NEK1, NEK8, RAPSN, NPC1, UBA1, MUSK, COL1A1, REN, INPPL1, KIF5C, IGHMBP2, LONP1, BRAF, KLF1, CBL, RPL11, NPHS1, MYCN, CLASP1, ABCB4, CLCNKB, SNRPB, DNM1L, ABCA12, DNM2, EP300, FGFR3, PEX19, FLNB, BSND, SARS2, RPS19, TNNT2, DIS3L2, MYH11, ADCY6, ALDH18A1, CNTN1, CHRM3, PKLR, SLC9A3, MEGF10, HRAS, ACTG2, SF3B4, DMPK

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], GLYCOGEN STORAGE DISEASE IV, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, THANATOPHORIC DYSPLASIA, TYPE II, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), BARTTER SYNDROME, TYPE 2, BARTH SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 10, ATELOSTEOGENESIS, TYPE I, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, CEREBROCOSTOMANDIBULAR SYNDROME, 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, CARDIOFACIOCUTANEOUS SYNDROME, MEIER-GORLIN SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NEU-LAXOVA SYNDROME 2, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, NIEMANN-PICK DISEASE TYPE C1, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, DIAPHANOSPONDYLODYSOSTOSIS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, TYPE IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, LONG QT SYNDROME 15, OPSISMODYSPLASIA, VAN DEN ENDE-GUPTA SYNDROME, MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS, OSTEOGENESIS IMPERFECTA, TYPE II, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NOONAN SYNDROME 8, SPINAL MUSCULAR ATROPHY-1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MYOTONIC DYSTROPHY 1, LOWE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, TRIFUNCTIONAL PROTEIN DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?MECKEL SYNDROME 12, VISCERAL MYOPATHY, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PERLMAN SYNDROME, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HYPERTHYROIDISM, NONAUTOIMMUNE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, METATROPIC DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CODAS SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1

CALM1, LMNA, DNM2, COL1A1, NEK1, F5, LBR, COL3A1, AGT, PPARG, COL5A1, ASCC1, PNPO, UBA1, REN, MYH7, SCARF2, CLASP1, NEK8, NPC1, BMPER, POR, OCRL, ADCY6, SLC9A3, SF3B4, ACTA1, PLOD1, ACE, DOK7, IL1RN, FBLN5, ERBB3, CBL, ABCA12, TRPV4, IGF2, PKLR, MYCN, MTM1, BUB1B, RYR1, COL1A2, HADHA, DMPK, KIF5C, MEGF10, LONP1, COL2A1, KCNJ1, DNM1L, EP300, TSHR, TNNT2, ATP8B1, BRAF, SLC26A3, SNAP25, DIS3L2, GPC3, ALPL, ITGA8, SOX9, AGTR1, FLT4, RIT1, GMPPB, TAZ, CNTN1, SNRPB, RAPSN, GBE1, INPPL1, WDR62, NPHS1, FBN1, ABCB4, MAP2K2, PSAT1, RPS19, MUSK, FGFR3, CHRM3, AMER1, ITGA6, SKIV2L, PAH, GLE1, IGHMBP2, ALDH18A1, HSD17B4, KIF14, ITGB4, GATA6, KLF1, HADHB, ORC1, NOS3, RPL11, STRADA, RET, PEX19, ACTG2, HRAS, SARS2, MYH11, ALB, FLNB, TPM3

COLE-CARPENTER SYNDROME 2, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, 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, BARTTER SYNDROME, TYPE 2, SIALIC ACID STORAGE DISORDER, INFANTILE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, ACHONDROGENESIS IB, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOTONIC DYSTROPHY 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BARTTER SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, 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, ?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}, BARTTER SYNDROME, TYPE 4B, DIGENIC, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, 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, ESCOBAR SYNDROME

CALM1, CHRND, ALPL, CHRNE, REN, ERBB3, SEC24D, ATP8B1, CLCNKA, CHRNG, ALB, F5, NOS3, GMPPB, KCNJ1, AGT, RYR1, PPARG, AGTR1, CHRNA1, BSND, SLC26A2, DMPK, KIF5C, SLC17A5, BRAF, KLF1, SLC35D1, PIEZO1, CLCNKB, COX15, EP300, PEX19, SNAP25, HRAS, EFEMP2, MUSK, TRPV4, TALDO1, ADCY6, CNTN1, CHRM3, SLC9A3, SLC26A3, ATP6V0A2, SKIV2L, SLC12A1

COLE-CARPENTER SYNDROME 2, ?PRUNE BELLY SYNDROME, HYPOPHOSPHATASIA, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, 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, SIALIC ACID STORAGE DISORDER, INFANTILE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, {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, ACHONDROGENESIS IB, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYOTONIC DYSTROPHY 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, BARTTER SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, WRINKLY SKIN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, 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, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 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, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, 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, ESCOBAR SYNDROME

CALM1, CHRND, ALPL, CHRNE, REN, ERBB3, SEC24D, ABCA12, ATP8B1, CLCNKA, CHRNG, ALB, F5, NOS3, EBP, GMPPB, KCNJ1, AGT, RYR1, PPARG, AGTR1, CHRNA1, HRAS, SLC26A2, DMPK, KIF5C, SLC17A5, BRAF, KLF1, SLC35D1, PIEZO1, ABCB4, CLCNKB, COX15, EP300, PEX19, SNAP25, BSND, EFEMP2, TSHR, TNNT2, MUSK, TRPV4, TALDO1, ADCY6, CNTN1, CHRM3, SLC9A3, SLC26A3, ATP6V0A2, SF3B4, SKIV2L, SLC12A1

?PRUNE BELLY SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, 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, BARTTER SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOTONIC DYSTROPHY 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, RUBINSTEIN-TAYBI SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, BARTTER SYNDROME, TYPE 4B, DIGENIC, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LYMPHEDEMA, HEREDITARY, III, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS

CALM1, ALPL, CHRNE, REN, CLCNKA, CHRNG, ALB, F5, NOS3, KCNJ1, CNTN1, RYR1, AGTR1, CHRNA1, BSND, KIF5C, CHRND, KLF1, PIEZO1, CLCNKB, EP300, HRAS, EFEMP2, TSHR, MUSK, TRPV4, ADCY6, AGT, CHRM3, BRAF, SNAP25, DMPK

D-BIFUNCTIONAL PROTEIN DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY

HADHB, HADHA, HSD17B4

?PRUNE BELLY SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, 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, BARTTER SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, ?MYASTHENIC SYNDROME, CONGENITAL, 18, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, BARTTER SYNDROME, TYPE 4B, DIGENIC, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, ALPL, CHRNE, CLCNKA, CHRNG, ALB, F5, NOS3, KLF1, AGT, RYR1, AGTR1, CHRNA1, BSND, KIF5C, KCNJ1, PIEZO1, CLCNKB, HRAS, EFEMP2, MUSK, ADCY6, CNTN1, CHRM3, CHRND, SNAP25, DMPK

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ESCOBAR SYNDROME, LONG QT SYNDROME 15, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOTONIC DYSTROPHY 1, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, BARTTER SYNDROME, TYPE 2, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, {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, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8

ACTA1, CALM1, EFEMP2, KCNJ1, RYR1, CNTN1, MUSK, ADCY6, CHRNE, CHRNA1, CHRNG, NOS3, CHRND, AGT, AGTR1, KIF5C, DMPK, HRAS

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

COL6A1, COL1A1, COL1A2, COL2A1, COL5A1, COL3A1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), THANATOPHORIC DYSPLASIA, TYPE I, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), EPILEPSY, PYRIDOXINE-DEPENDENT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GAUCHER DISEASE, PERINATAL LETHAL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BARTTER SYNDROME, TYPE 2, 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, MARFAN LIPODYSTROPHY SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, HYPERTHYROIDISM, NONAUTOIMMUNE, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, BOHRING-OPITZ SYNDROME, 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, ?RENAL HYPODYSPLASIA/APLASIA 2, MYOTUBULAR MYOPATHY, X-LINKED, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MEIER-GORLIN SYNDROME 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, METATROPIC DYSPLASIA, GENITOPATELLAR SYNDROME, 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, CHONDRODYSPLASIA, BLOMSTRAND TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SECKEL SYNDROME 9, KEUTEL SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CODAS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SERKAL SYNDROME, MYOTONIC DYSTROPHY 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, HSD17B4, DOK7, CHRNE, TRPV4, ITGA8, FBN1, ERBB3, ACE, COL1A1, EP300, COL5A1, ASXL1, GPC3, FLT4, AGTR1, ITGB4, IGF2, COL3A1, ALDH7A1, PTH1R, ALPL, FBLN5, COL6A1, AGT, RYR1, CHRNA1, PPARG, SLC9A3, ORC1, NEU1, RAPSN, ASCC1, NOS3, UBA1, IL1RN, HADHA, REN, INPPL1, HADHB, CBL, LONP1, COL2A1, KCNJ1, GBA, TRAIP, CPT1A, NPHS1, MYCN, CLASP1, WNT4, KAT6B, ABCA12, DNM2, RET, FGFR3, PEX19, FOXF1, ACTG2, HRAS, GATA6, COL1A2, EFEMP2, BMPER, RPS19, TSHR, MGP, MUSK, MYH11, ALB, FGF20, CNTN1, CHRM3, PKLR, TRIP4, ITGA6, F5, RPL11, PAH, SF3B4, DMPK

?PRUNE BELLY SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, 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, BARTTER SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOTONIC DYSTROPHY 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, RUBINSTEIN-TAYBI SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, BARTTER SYNDROME, TYPE 4B, DIGENIC, 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

CALM1, ALPL, CHRNE, REN, CLCNKA, CHRNG, ALB, F5, NOS3, KLF1, AGT, RYR1, AGTR1, CHRNA1, BSND, KIF5C, CHRND, KCNJ1, PIEZO1, CLCNKB, EP300, HRAS, EFEMP2, MUSK, TRPV4, ADCY6, CNTN1, CHRM3, BRAF, SNAP25, DMPK

MYOTUBULAR MYOPATHY, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, NOONAN SYNDROME 8, HYPOPHOSPHATASIA, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MEIER-GORLIN SYNDROME 1, BARTH SYNDROME, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), MYOTONIC DYSTROPHY 1, LOWE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, GLYCOGEN STORAGE DISEASE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NIEMANN-PICK DISEASE TYPE C1, PERLMAN SYNDROME, BARTTER SYNDROME, TYPE 2, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, 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, THANATOPHORIC DYSPLASIA, TYPE I, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, 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, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, CEREBROCOSTOMANDIBULAR SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, 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, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, ?MECKEL SYNDROME 12, METATROPIC DYSPLASIA, 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, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, 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, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OPSISMODYSPLASIA, SPINAL MUSCULAR ATROPHY-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CODAS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, ?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, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, ACE, HSD17B4, NEK8, ALPL, TRPV4, KIF14, ERBB3, SOX9, ABCA12, BRAF, EP300, MYH7, ORC1, GBE1, LBR, FLT4, AGTR1, ITGB4, RIT1, PKLR, CNTN1, GATA6, GMPPB, KLF1, TAZ, BUB1B, SKIV2L, PPARG, NEK1, RAPSN, NOS3, DIS3L2, PNPO, IGF2, MUSK, COL1A1, REN, INPPL1, DMPK, KIF5C, FLNB, IGHMBP2, LONP1, UBA1, KCNJ1, CBL, RPL11, NPHS1, MYCN, CLASP1, ABCB4, STRADA, SNRPB, DNM1L, MAP2K2, DNM2, RET, FGFR3, PEX19, ATP8B1, SNAP25, NPC1, SARS2, RPS19, TNNT2, OCRL, MYH11, ADCY6, ALDH18A1, AGT, CHRM3, SLC9A3, MEGF10, HRAS, ACTG2, SF3B4, POR, GLE1