PRENATAL MANIFESTATIONS

MYOTUBULAR MYOPATHY, X-LINKED, OPSISMODYSPLASIA, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, VISCERAL MYOPATHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS

ACTA1, CALM1, MYH7, TPM3, MYH11, CBL, DNM2, FLNB, INPPL1

?PRUNE BELLY SYNDROME, HYPOPHOSPHATASIA, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, 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, MECKEL SYNDROME 11, 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, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYOTONIC DYSTROPHY 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, 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, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BARTTER SYNDROME, TYPE 1, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, SOX9, RET, ALPL, CHRNE, TRPV4, ERBB3, CBL, ATP8B1, IGF2, ITGB4, NOS3, PPARG, PTH1R, AGT, RYR1, UPK3A, RAPSN, HRAS, ALB, TMEM231, MEGF10, ITGA6, KLF1, NPHS1, FBN1, TALDO1, DNM2, EP300, PEX19, BSND, TSHR, MYH11, ADCY6, CNTN1, CHRM3, SLC9A3, SLC26A3, SNAP25, SF3B4, DMPK, SLC12A1

D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, 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, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, MECKEL SYNDROME 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MECKEL SYNDROME 11, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, MUSCULAR DYSTROPHY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, CEREBROCOSTOMANDIBULAR SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, 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, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MYOTUBULAR MYOPATHY, X-LINKED, RESTRICTIVE DERMOPATHY, LETHAL, 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, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPOPHOSPHATASIA, INFANTILE, SPINAL MUSCULAR ATROPHY-1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, MYOTONIC DYSTROPHY 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, VAN DEN ENDE-GUPTA SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NEPHRONOPHTHISIS 2, INFANTILE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, LMNA, RET, ALPL, WDR34, ITGA8, ERBB3, MEGF10, COL1A1, ATP8B1, KIAA0586, TMEM231, SNRPB, HSD17B4, AGT, FLT4, AGTR1, COL3A1, PTH1R, GMPPB, BUB1B, RYR1, CHRM3, INVS, NEU1, RAPSN, CHRNA1, NOS3, UBA1, REN, INPPL1, KIF5C, IGHMBP2, SLC9A3, CBL, SCARF2, NPHS1, CLASP1, FBN1, DNM2, EP300, PEX19, HRAS, TSHR, TRPV4, MKS1, ADCY6, CNTN1, NEB, ITGA6, CNTNAP1, SLC26A3, SNAP25, WDR35, SF3B4, DMPK

?PRUNE BELLY SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, HYPOPHOSPHATASIA, INFANTILE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, RITSCHER-SCHINZEL SYNDROME 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, NIEMANN-PICK DISEASE TYPE C1, ICHTHYOSIS, X-LINKED, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, THANATOPHORIC DYSPLASIA, TYPE I, TRIFUNCTIONAL PROTEIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CHONDRODYSPLASIA, BLOMSTRAND TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MYOTONIC DYSTROPHY 1, PYRUVATE KINASE DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, RENAL ADYSPLASIA, LYMPHEDEMA, HEREDITARY, III, YUNIS-VARON SYNDROME, NIEMANN-PICK DISEASE, TYPE C2, CARDIOFACIOCUTANEOUS SYNDROME, GREENBERG SKELETAL DYSPLASIA, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, TRICHOHEPATOENTERIC SYNDROME 2, ?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, RUBINSTEIN-TAYBI SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VII, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CODAS SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SMITH-LEMLI-OPITZ SYNDROME

CALM1, ALPL, FGFR3, ITGA8, CBL, MAP2K2, DHCR7, HADHB, SNRPB, PIGA, LBR, PEX3, AGTR1, CHRM3, PKLR, PTH1R, CRTAP, AGT, RYR1, PPARG, NEB, NOS3, HRAS, KIAA0196, PLEC, DMPK, MEGF10, LONP1, ITGA6, ALG1, NPHS1, EBP, PIEZO1, COL1A1, RET, EP300, PEX19, ATP8B1, NPC1, COL1A2, RPS19, TSHR, STS, TRPV4, ALB, BRAF, NPC2, CNTNAP1, SKIV2L, SNAP25, POR, FIG4

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPILEPSY, PYRIDOXINE-DEPENDENT, GAUCHER DISEASE, PERINATAL LETHAL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ICHTHYOSIS, X-LINKED, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, TRIFUNCTIONAL PROTEIN DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CEREBROCOSTOMANDIBULAR SYNDROME, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BETHLEM MYOPATHY 1, MUCOPOLYSACCHARIDOSIS VII, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MEIER-GORLIN SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, TRICHOHEPATOENTERIC SYNDROME 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VII, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CODAS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VI, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FIBROCHONDROGENESIS 1, SERKAL SYNDROME

ACTA1, CALM1, ACE, GPC3, ALPL, REN, ERBB3, SOX9, COL1A1, ORC1, HSD17B4, COL6A2, FLT4, AGTR1, IGF2, PKLR, ALDH7A1, GATA6, GMPPB, GUSB, COL11A1, RYR1, PPARG, NOS3, RAPSN, COL3A1, COL6A1, ALB, HADHA, INPPL1, PLOD1, CBL, LONP1, ITGA6, LMNA, COL5A2, GBA, NEU1, CLASP1, SNRPB, DNM2, EP300, CRTAP, PEX19, COL5A1, HRAS, COL1A2, COL6A3, SARS2, STS, WNT4, MYH11, MUSK, ALDH18A1, FKBP14, AGT, CHRM3, COL2A1, F5, SF3B4, SKIV2L

HYPOPHOSPHATASIA, INFANTILE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, ICHTHYOSIS, X-LINKED, CPT DEFICIENCY, HEPATIC, TYPE IA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GREENBERG SKELETAL DYSPLASIA, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOTONIC DYSTROPHY 1, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, COLE-CARPENTER SYNDROME 2, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, SCHNECKENBECKEN DYSPLASIA, TRICHOHEPATOENTERIC SYNDROME 2, ?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, DIAMOND-BLACKFAN ANEMIA 7, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, PETERS-PLUS SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, LYMPHEDEMA, HEREDITARY, III, DIAMOND-BLACKFAN ANEMIA 1, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SMITH-LEMLI-OPITZ SYNDROME

CALM1, NECAP1, PIGN, ALPL, EPHX1, ERBB3, LMNA, DHCR7, SEPN1, PIGA, LBR, TMCO1, NOS3, PPARG, EBP, B3GLCT, CNTN1, SKIV2L, UPK3A, AGTR1, HRAS, CPT1A, DMPK, PLOD1, MEGF10, CBL, RPL11, ALG1, NPHS1, PIEZO1, ABCB4, ZMPSTE24, RET, PEX19, FKBP14, PIGY, RPS19, TSHR, RYR1, STS, SEC24D, ALB, AGT, SLC35D1, SNAP25, POR

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, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, 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}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 10, 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, LYMPHEDEMA, HEREDITARY, IA, ?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, CAUDAL REGRESSION SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, DOK7, CHRNE, REN, ERBB3, COL1A1, FLT4, COL1A2, ALPL, AGT, RYR1, AGTR1, RAPSN, CHRNA1, VANGL1, KIF5C, CPT1A, NPHS1, EP300, HRAS, MUSK, ADCY6, CHRM3, ITGA6, SNAP25

?PRUNE BELLY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, VISCERAL MYOPATHY, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, ACE, DNM2, MYH11, ITGA8, LMNA, MAP2K2, FLT4, IGF2, NOS3, AGT, PPARG, PLEC, INPPL1, MYH7, ITGA6, CBL, SCARF2, COL1A1, GPC3, RET, FGFR3, FLNB, HRAS, RPS19, TRPV4, BRAF, CHRM3, CNTNAP1, SNAP25, SF3B4

?PRUNE BELLY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, VISCERAL MYOPATHY, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, ACE, DNM2, MYH11, ITGA8, LMNA, MAP2K2, FLT4, IGF2, NOS3, AGT, PPARG, PLEC, INPPL1, MYH7, ITGA6, CBL, SCARF2, COL1A1, GPC3, RET, FGFR3, FLNB, HRAS, RPS19, TRPV4, BRAF, CHRM3, CNTNAP1, SNAP25, SF3B4

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ?PRUNE BELLY SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, WIEACKER-WOLFF SYNDROME, BARTTER SYNDROME, TYPE 2, 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, CPT DEFICIENCY, HEPATIC, TYPE IA, SIALIC ACID STORAGE DISORDER, INFANTILE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RENAL TUBULAR DYSGENESIS, ESCOBAR SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BOHRING-OPITZ SYNDROME, ?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, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, THANATOPHORIC DYSPLASIA, TYPE I, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, GENITOPATELLAR SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, MYOTONIC DYSTROPHY 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION

ACTA1, CALM1, ACE, GPC3, DOK7, CHRNE, TRPV4, ITGA8, ERBB3, SOX9, MAP2K2, CHRND, BRAF, EP300, CHRNG, PLEC, FLT4, ITGB4, IGF2, NOS3, SLC9A3, LMNA, KLF1, AGT, DMPK, PPARG, CHRM3, AGTR1, RAPSN, CHRNA1, ASXL1, ZC4H2, KIF14, INPPL1, KIF5C, MYH7, SLC17A5, ITGA6, KCNJ1, CBL, SCARF2, NPHS1, CLASP1, ABCB4, TALDO1, DNM1L, COL1A1, DNM2, RET, FGFR3, NEU1, FLNB, HRAS, RPS19, MUSK, MYH11, ADCY6, CPT1A, CNTN1, NEB, CNTNAP1, MEGF10, KAT6B, SNAP25, SF3B4, RYR1

?PRUNE BELLY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, VISCERAL MYOPATHY, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, ACE, GPC3, MYH11, ITGA8, LMNA, MAP2K2, FLT4, ITGB4, IGF2, NOS3, AGT, PPARG, PLEC, INPPL1, MYH7, ITGA6, CBL, SCARF2, COL1A1, DNM2, RET, FGFR3, FLNB, HRAS, RPS19, TRPV4, BRAF, CHRM3, CNTNAP1, SNAP25, SF3B4

MYOTUBULAR MYOPATHY, X-LINKED, OPSISMODYSPLASIA, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, VISCERAL MYOPATHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS

ACTA1, CALM1, MYH7, TPM3, MYH11, CBL, DNM2, FLNB, INPPL1

PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 14B, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)

PEX19, PEX3, PEX11B

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, LONG QT SYNDROME 15, FIBROCHONDROGENESIS 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

CALM1, EFEMP2, COL6A2, COL11A1, COL3A1, ERBB3, SOX9, COL1A1, COL1A2, COL6A1, COL6A3, COL5A1, COL2A1, COL5A2

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

COL2A1, COL11A1, COL1A1, COL3A1, COL5A2, COL5A1, COL1A2

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), GAUCHER DISEASE, PERINATAL LETHAL, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, BARTTER SYNDROME, TYPE 2, BARTH SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 10, ATELOSTEOGENESIS, TYPE I, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, MYOTUBULAR MYOPATHY, X-LINKED, CHONDRODYSPLASIA, BLOMSTRAND TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MYOTONIC DYSTROPHY 1, CEREBROCOSTOMANDIBULAR SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 7, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRICHOHEPATOENTERIC SYNDROME 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PETERS-PLUS SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ?RENAL HYPODYSPLASIA/APLASIA 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, BOHRING-OPITZ SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, NIEMANN-PICK DISEASE TYPE C1, ICHTHYOSIS, X-LINKED, MECKEL SYNDROME 11, ?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, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, DIAPHANOSPONDYLODYSOSTOSIS, PEROXISOME BIOGENESIS DISORDER 14B, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, VESICOURETERAL REFLUX 3, RENAL TUBULAR DYSGENESIS, YUNIS-VARON SYNDROME, WRINKLY SKIN SYNDROME, 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, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ACHONDROGENESIS IB, NEPHRONOPHTHISIS 2, INFANTILE, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, LONG QT SYNDROME 15, MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS, OSTEOGENESIS IMPERFECTA, TYPE II, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, NOONAN SYNDROME 8, SPINAL MUSCULAR ATROPHY-1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, GALLOWAY-MOWAT SYNDROME, BARTTER SYNDROME, TYPE 1, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, LOWE SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LYMPHEDEMA, HEREDITARY, IA, MARFAN LIPODYSTROPHY SYNDROME, NIEMANN-PICK DISEASE, TYPE C2, TRIFUNCTIONAL PROTEIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, MECKEL SYNDROME 1, ?MECKEL SYNDROME 12, VISCERAL MYOPATHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, MUCOPOLYSACCHARIDOSIS VII, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, SCHNECKENBECKEN DYSPLASIA, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, 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}, BARTTER SYNDROME, TYPE 4B, DIGENIC, SECKEL SYNDROME 9, ACHONDROGENESIS, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SIALIC ACID STORAGE DISORDER, INFANTILE, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ESCOBAR SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MEIER-GORLIN SYNDROME 1, 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, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PREIMPLANTATION EMBRYONIC LETHALITY, RUBINSTEIN-TAYBI SYNDROME 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CODAS SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, SERKAL SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME

CALM1, LMNA, DNM2, TRAIP, CNTNAP1, COL1A1, CPT2, CHRNG, F5, LBR, COL1A2, EBP, B3GLCT, AGT, PPARG, COL5A1, PPP1R3A, UBA1, VANGL1, KIF14, TRIP4, ADGRG6, SLC17A5, COL6A3, FGF20, ALG1, IBA57, CLASP1, NEK8, COQ7, NPC1, EFEMP2, BMPER, POR, MBTPS2, OCRL, MKS1, ADCY6, SLC9A3, ATP6V0A2, SF3B4, MUSK, FIG4, ACTA1, PLOD1, ACE, PIGY, DOK7, WDR34, SLC26A2, ERBB3, MEGF10, ABCA12, CHRND, CLCNKA, MYH7, COL6A2, IGF2, AGTR1, PKLR, MYCN, TTC37, COL6A1, BUB1B, RYR1, EPHX1, CHRM3, COL3A1, HADHA, KIF5C, CBL, LONP1, COL2A1, KCNJ1, TRIP11, TALDO1, DNM1L, SOX9, EP300, FGFR3, NEU1, FKBP14, PEX11B, TSHR, TNNT2, ATP8B1, BRAF, SLC26A3, SNAP25, SLC12A1, PIGA, GPC3, ALPL, ITGA8, SHOC2, SNRPB, PLEC, FLT4, TMCO1, PEX19, PTH1R, GMPPB, TAZ, CNTN1, ASCC1, TMEM70, RAPSN, CHRNA1, CRB2, SOX17, IL1RN, FBLN5, INPPL1, HADHB, NPHP3, WDR62, PEX3, NPHS1, PIEZO1, ABCB4, COX15, MAP2K2, BSND, RPS19, TPM3, SEC24D, TRPV4, STS, NPC2, AMER1, TMEM231, MTM1, PAH, GUSB, GLE1, HSD17B4, CHRNE, PIGN, INVS, IGHMBP2, NECAP1, SEPN1, ALB, ASXL1, DHCR7, ITGB4, TLE6, GATA6, KLF1, DMPK, UPK3A, ORC1, NOS3, KIAA0196, SLC35D1, FLVCR2, ZNF592, REN, GBA, CPT1A, RPL11, ZMPSTE24, CLCNKB, FBN1, RET, RIT1, BRAT1, FLNB, HRAS, WNT4, SARS2, MYH11, ALDH18A1, NEB, ITGA6, ACTG2, SKIV2L

MUCOPOLYSACCHARIDOSIS VII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, GAUCHER DISEASE, PERINATAL LETHAL, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ICHTHYOSIS, X-LINKED, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS

ACTA1, CALM1, CBL, NEU1, GUSB, STS, COL1A1, GBA, GPC3, NOS3

MYOTUBULAR MYOPATHY, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LONG QT SYNDROME 15, CODAS SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HYPOPHOSPHATASIA, INFANTILE, MARFAN LIPODYSTROPHY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, RENAL ADYSPLASIA

CALM1, GATA6, LONP1, RET, ALPL, CNTN1, PPARG, MUSK, SOX9, ERBB3, CNTNAP1, CLASP1, FBN1, DNM2, GPC3, COL1A1, SKIV2L, COL1A2

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, SPINAL MUSCULAR ATROPHY-1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, 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, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MARFAN LIPODYSTROPHY SYNDROME, FEINGOLD SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 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, LOWE SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, PREIMPLANTATION EMBRYONIC LETHALITY, ?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, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, EHLERS-DANLOS SYNDROME, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, LMNA, RET, CHRNE, MYH11, REN, ERBB3, CBL, COL1A1, BRAF, ADCY6, PLEC, AGT, FLT4, AGTR1, TLE6, COL3A1, SLC9A3, PTH1R, IGHMBP2, BUB1B, PMM2, PPARG, CHRM3, SNRPB, RAPSN, CHRNA1, NOS3, UBA1, ITGA8, DMPK, KIF5C, MEGF10, CNTNAP1, RPL11, NPHS1, MYCN, CLASP1, IGF2, DNM1L, FBN1, DNM2, EP300, FGFR3, PEX19, SNAP25, HRAS, EFEMP2, POR, TSHR, TPM3, MUSK, TRPV4, ALB, CNTN1, NEB, OCRL, ITGA6, PAH, SF3B4, RYR1

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, WIEACKER-WOLFF SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SIALIC ACID STORAGE DISORDER, INFANTILE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESCOBAR SYNDROME, 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, LYMPHEDEMA, HEREDITARY, IA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION

ACTA1, CALM1, ALPL, CHRNE, ITGA8, ERBB3, COL1A1, CHRNG, ADCY6, ZC4H2, FLT4, NOS3, AGT, RYR1, AGTR1, RAPSN, CHRNA1, KIF5C, MEGF10, SLC17A5, CHRND, NPHS1, DNM1L, DNM2, HRAS, TSHR, MUSK, TRPV4, ALB, CHRM3, ITGA6, SNAP25

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?PRUNE BELLY SYNDROME, SPINAL MUSCULAR ATROPHY-1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOTONIC DYSTROPHY 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PREIMPLANTATION EMBRYONIC LETHALITY, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, 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, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, ?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, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION

ACTA1, CALM1, SOX9, RET, CHRNE, FGFR3, REN, ERBB3, CBL, COL1A1, ALB, FLT4, AGTR1, TLE6, NOS3, AGT, RYR1, SNRPB, CRB2, IGF2, DMPK, KIF5C, IGHMBP2, SLC9A3, RPL11, NPHS1, CLASP1, DNM1L, DNM2, PEX19, SNAP25, HRAS, EFEMP2, POR, TSHR, MUSK, MYH11, ADCY6, BRAF, CHRM3, ITGA6, CNTNAP1, PAH, SF3B4, TPM3

SPINAL MUSCULAR ATROPHY-1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, RENAL ADYSPLASIA, MYOTUBULAR MYOPATHY, X-LINKED, ?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, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RENAL TUBULAR DYSGENESIS

CALM1, CBL, CNTNAP1, REN, CHRNE, FGFR3, RYR1, FLT4, ERBB3, IGHMBP2, ADCY6, PEX19, ALB, DNM2, RET, HRAS, COL1A1, IGF2, SNAP25, NOS3

MYOTUBULAR MYOPATHY, X-LINKED, OPSISMODYSPLASIA, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, VISCERAL MYOPATHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS

ACTA1, CALM1, MYH7, TPM3, MYH11, CBL, DNM2, FLNB, INPPL1

CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, THANATOPHORIC DYSPLASIA, TYPE II, BARTTER SYNDROME, TYPE 2, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, CHONDRODYSPLASIA, BLOMSTRAND TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, COLE-CARPENTER SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, CARDIOFACIOCUTANEOUS SYNDROME, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ARTHROGRYPOSIS, DISTAL, TYPE 5D, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, BOHRING-OPITZ SYNDROME, NIEMANN-PICK DISEASE TYPE C1, MECKEL SYNDROME 11, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FEINGOLD SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ACHONDROGENESIS IB, MYOTONIC DYSTROPHY 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OPSISMODYSPLASIA, KEUTEL SYNDROME, LONG QT SYNDROME 15, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, BARTTER SYNDROME, TYPE 1, WIEACKER-WOLFF 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, VISCERAL MYOPATHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MUSCULAR DYSTROPHY, CONGENITAL, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, BARTTER SYNDROME, TYPE 4B, DIGENIC, SECKEL SYNDROME 9, HYPERTHYROIDISM, NONAUTOIMMUNE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, EHLERS-DANLOS SYNDROME, TYPE IV, MYOTUBULAR MYOPATHY, X-LINKED, ?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, SIALIC ACID STORAGE DISORDER, INFANTILE, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESCOBAR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, CAUDAL REGRESSION SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CODAS SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE

CALM1, LMNA, DNM2, TRAIP, COL1A1, CHRNG, F5, COL3A1, EBP, AGT, PPARG, COL5A1, UBA1, VANGL1, REN, TMEM231, SLC17A5, CLASP1, NEU1, NPC1, EFEMP2, BMPER, ECEL1, ADCY6, CNTNAP1, SF3B4, SEC24D, ACTA1, ACE, CHRND, IL1RN, PLEC, ERBB3, MEGF10, MAP2K2, CLCNKA, TRPV4, IGF2, NOS3, MYCN, RYR1, COL1A2, ZC4H2, KIF5C, CBL, LONP1, SLC9A3, KCNJ1, TALDO1, DNM1L, SOX9, EP300, TSHR, ATP8B1, SLC26A3, SNAP25, SLC12A1, GPC3, ALPL, ITGA8, SHOC2, AGTR1, FLT4, PTH1R, CNTN1, RAPSN, CHRNA1, SLC26A2, INPPL1, KLF1, NPHS1, FBN1, ABCB4, BSND, MUSK, FGFR3, CHRM3, ITGA6, COL2A1, PIGA, CHRNE, ASXL1, ITGB4, GATA6, DMPK, UPK3A, PKLR, CPT1A, RPL11, CLCNKB, RET, PEX19, ACTG2, HRAS, MGP, MYH11, ALB, NEB, FLNB, SKIV2L

MYOTUBULAR MYOPATHY, X-LINKED, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, HYPERTHYROIDISM, NONAUTOIMMUNE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), CPT II DEFICIENCY, LETHAL NEONATAL, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, BARTTER SYNDROME, TYPE 2, CPT DEFICIENCY, HEPATIC, TYPE IA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CUTIS LAXA, AUTOSOMAL DOMINANT 3, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOTONIC DYSTROPHY 1, PYRUVATE KINASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, MEIER-GORLIN SYNDROME 1, RESTRICTIVE DERMOPATHY, LETHAL, GREENBERG SKELETAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, 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, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HYPOPHOSPHATASIA, INFANTILE, MARFAN LIPODYSTROPHY SYNDROME, OPSISMODYSPLASIA, CODAS SYNDROME, EPILEPSY, PYRIDOXINE-DEPENDENT, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SMITH-LEMLI-OPITZ SYNDROME

CALM1, LMNA, ALPL, REN, ABCA12, LBR, CPT2, HADHB, ORC1, DHCR7, COQ7, PKLR, ALDH7A1, GMPPB, TAZ, AGT, RYR1, PPARG, ASCC1, TMEM70, PPP1R3A, NOS3, ALB, HADHA, PLEC, INPPL1, DMPK, LONP1, KCNJ1, CPT1A, FBN1, DNM1L, DNM2, PEX19, FKBP14, SARS2, TSHR, TNNT2, MUSK, ALDH18A1, COX15, SKIV2L

?PRUNE BELLY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, VISCERAL MYOPATHY, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, ACE, DNM2, MYH11, ITGA8, LMNA, MAP2K2, EP300, FLT4, IGF2, NOS3, AGT, PPARG, PLEC, INPPL1, MYH7, ITGA6, CBL, SCARF2, COL1A1, GPC3, RET, FGFR3, FLNB, HRAS, RPS19, TRPV4, BRAF, CHRM3, CNTNAP1, SNAP25, SF3B4

BETHLEM MYOPATHY 1, RUBINSTEIN-TAYBI SYNDROME 2, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RENAL TUBULAR DYSGENESIS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}

CALM1, ACE, COL6A2, COL6A1, PLEC, SOX9, NOS3, ITGA6, COL6A3, EP300, COL2A1, COL1A2

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 10, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LONG QT SYNDROME 15, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RENAL TUBULAR DYSGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

CALM1, DOK7, CHRNE, MUSK, ERBB3, COL1A1, RAPSN, AGT, CHRNA1, NOS3

?PRUNE BELLY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, VISCERAL MYOPATHY, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, ACE, DNM2, MYH11, ITGA8, LMNA, MAP2K2, FLT4, IGF2, NOS3, AGT, PPARG, PLEC, INPPL1, MYH7, ITGA6, CBL, SCARF2, COL1A1, GPC3, RET, FGFR3, FLNB, HRAS, RPS19, TRPV4, BRAF, CHRM3, CNTNAP1, SNAP25, SF3B4

?PRUNE BELLY SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, BARTTER SYNDROME, TYPE 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MARFAN LIPODYSTROPHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CHONDRODYSPLASIA, BLOMSTRAND TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, VISCERAL MYOPATHY, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HYPERTHYROIDISM, NONAUTOIMMUNE, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, SOX9, CHRNE, PPARG, ERBB3, NOS3, PTH1R, AGT, RYR1, UPK3A, CBL, SLC9A3, KLF1, NPHS1, FBN1, RET, EP300, PEX19, HRAS, TSHR, MYH11, ATP8B1, CHRM3, ITGA6, SLC26A3, SF3B4, SLC12A1

ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), LOWE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, FEINGOLD SYNDROME, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, WRINKLY SKIN SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, OSTEOGENESIS IMPERFECTA, TYPE II, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV

CALM1, REN, ERBB3, ABCA12, IGF2, FLT4, COL1A2, MYCN, AGT, PPARG, NOS3, INPPL1, ITGA6, COL3A1, NPHS1, COL1A1, ATP6V0A2, HRAS, TSHR, OCRL, MYH11, ALB, COL2A1, SNAP25

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, HYPOPHOSPHATASIA, INFANTILE, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, RENAL TUBULAR DYSGENESIS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, 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, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, CODAS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?RENAL HYPODYSPLASIA/APLASIA 2, SERKAL SYNDROME

ACTA1, CALM1, GPC3, ALPL, CHRNE, MYH11, ITGA8, ERBB3, COL1A1, EP300, FLT4, ITGB4, IGF2, NOS3, GATA6, AGT, PPARG, AGTR1, CHRNA1, FGF20, FBLN5, CBL, LONP1, COL2A1, NPHS1, CLASP1, DNM2, RET, FGFR3, PEX19, HRAS, TSHR, TNNT2, MUSK, TRPV4, ALB, BRAF, CHRM3, ITGA6, SLC9A3, SF3B4, WNT4

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, 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, 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, CARDIOFACIOCUTANEOUS SYNDROME, METATROPIC DYSPLASIA, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PETERS-PLUS SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, NIEMANN-PICK DISEASE TYPE C1, ICHTHYOSIS, X-LINKED, MECKEL SYNDROME 11, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYOTONIC DYSTROPHY 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OPSISMODYSPLASIA, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, LONG QT SYNDROME 15, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CHONDRODYSPLASIA, BLOMSTRAND TYPE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, BARTTER SYNDROME, TYPE 1, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, MUSCULAR DYSTROPHY, CONGENITAL, DIAMOND-BLACKFAN ANEMIA 7, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, VISCERAL MYOPATHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, SCHNECKENBECKEN DYSPLASIA, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, 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, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1

CALM1, LMNA, COL1A1, F5, LBR, COL1A2, EBP, B3GLCT, AGT, PPARG, AGTR1, ASCC1, UBA1, TMEM231, SLC35D1, CLASP1, DNM2, NPC1, POR, ADCY6, CNTNAP1, SF3B4, ACTA1, PLOD1, ACE, PLEC, ERBB3, MEGF10, IGF2, NOS3, BUB1B, RYR1, EPHX1, KIF5C, CBL, SLC9A3, TALDO1, SOX9, EP300, FKBP14, TSHR, STS, ATP8B1, BRAF, SLC26A3, SNAP25, SLC12A1, RET, ALPL, SHOC2, PIGY, FLT4, TMCO1, PTH1R, NECAP1, CNTN1, RAPSN, CHRNA1, HRAS, INPPL1, KLF1, NPHS1, FBN1, ABCB4, BSND, RPS19, SEC24D, TRPV4, CHRM3, ITGA6, PAH, COL2A1, PIGA, CHRNE, SEPN1, PIGN, DHCR7, ITGB4, GATA6, DMPK, UPK3A, ALG1, CPT1A, RPL11, ZMPSTE24, PIEZO1, GPC3, PEX19, CRB2, MYH11, ALB, SKIV2L

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}, FEINGOLD SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYOTONIC DYSTROPHY 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, METATROPIC DYSPLASIA, ?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, PREIMPLANTATION EMBRYONIC LETHALITY, RUBINSTEIN-TAYBI SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, RET, PLEC, ALB, TLE6, PTH1R, BUB1B, RYR1, AGTR1, RAPSN, UBA1, REN, DMPK, CBL, BRAF, MYCN, DNM1L, DNM2, EP300, PEX19, HRAS, POR, MUSK, TRPV4, ADCY6, AGT, CNTNAP1, SNAP25, SF3B4, PMM2

PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PYRUVATE KINASE DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, TRIFUNCTIONAL PROTEIN DEFICIENCY, CUTIS LAXA, AUTOSOMAL DOMINANT 3, LONG QT SYNDROME 15, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, BARTH SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, MYOTUBULAR MYOPATHY, X-LINKED, GREENBERG SKELETAL DYSPLASIA, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, TRICHOHEPATOENTERIC SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, MARFAN LIPODYSTROPHY SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, CPT II DEFICIENCY, LETHAL NEONATAL, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, SMITH-LEMLI-OPITZ SYNDROME

CALM1, SOX9, ALPL, REN, ABCA12, DHCR7, CPT2, ALB, LBR, COQ7, NOS3, TAZ, AGT, SKIV2L, PPARG, TMEM70, ASCC1, PKLR, HADHA, CPT1A, FBN1, DNM1L, DNM2, PEX19, TSHR, TNNT2, ALDH18A1, COX15, HADHB

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, WIEACKER-WOLFF SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LYMPHEDEMA, HEREDITARY, IA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, RENAL TUBULAR DYSGENESIS, ESCOBAR SYNDROME

CALM1, KIF5C, MEGF10, CHRND, CHRNE, MUSK, FLT4, CHRNA1, COL1A1, RAPSN, CHRM3, CHRNG, AGTR1, ZC4H2, SNAP25, DNM2, RYR1, NOS3

FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, X-LINKED, 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, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MYOTUBULAR MYOPATHY, X-LINKED, BETHLEM MYOPATHY 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OSTEOGENESIS IMPERFECTA, TYPE VII, FIBROCHONDROGENESIS 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SERKAL SYNDROME

SOX9, COL6A2, COL1A1, F5, FLT4, COL5A2, GATA6, GMPPB, COL11A1, PPARG, COL5A1, NOS3, COL6A1, CBL, COL2A1, COL3A1, DNM2, CRTAP, COL1A2, FKBP14, STS, MUSK, MYH11, AGT, PKLR, ITGA6, COL6A3, WNT4

ARTHROGRYPOSIS, DISTAL, TYPE 5D, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TRICHOHEPATOENTERIC SYNDROME 2, 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, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, FEINGOLD SYNDROME, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CEREBROCOSTOMANDIBULAR SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, VISCERAL MYOPATHY, RENAL ADYSPLASIA, BOHRING-OPITZ SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, COLE-CARPENTER SYNDROME 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, METATROPIC DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, ACHONDROGENESIS IB, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, BARTTER SYNDROME, TYPE 4B, DIGENIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, KEUTEL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CODAS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ESCOBAR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE

CALM1, SOX9, RET, ALPL, CHRNE, TRPV4, REN, ERBB3, SEC24D, COL1A1, ATP8B1, CLCNKA, CHRNG, AGTR1, F5, SLC17A5, FLT4, IGF2, NOS3, NPC1, PTH1R, LMNA, AGT, RYR1, PPARG, SLC9A3, SNRPB, NEU1, CHRNA1, EBP, HRAS, UBA1, IL1RN, SLC26A2, KIF5C, FLNB, CBL, LONP1, COL2A1, KLF1, NPHS1, MYCN, CLASP1, ABCB4, ECEL1, CLCNKB, DNM1L, FBN1, GPC3, EP300, FGFR3, COL1A2, ASXL1, BSND, EFEMP2, TSHR, MGP, MUSK, MYH11, ALB, CNTN1, CHRM3, ITGA6, CNTNAP1, SNAP25, SF3B4, SKIV2L

CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, THANATOPHORIC DYSPLASIA, TYPE II, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), BARTTER SYNDROME, TYPE 2, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 10, ATELOSTEOGENESIS, TYPE I, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, CHONDRODYSPLASIA, BLOMSTRAND TYPE, 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, TRANSALDOLASE DEFICIENCY, COLE-CARPENTER SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, CARDIOFACIOCUTANEOUS SYNDROME, MEIER-GORLIN SYNDROME 1, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRICHOHEPATOENTERIC SYNDROME 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ?RENAL HYPODYSPLASIA/APLASIA 2, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, BOHRING-OPITZ SYNDROME, NIEMANN-PICK DISEASE TYPE C1, ICHTHYOSIS, X-LINKED, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DIAPHANOSPONDYLODYSOSTOSIS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, VESICOURETERAL REFLUX 3, RENAL TUBULAR DYSGENESIS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, WRINKLY SKIN SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, TYPE IV, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ACHONDROGENESIS IB, MYOTONIC DYSTROPHY 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, LONG QT SYNDROME 15, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, NOONAN SYNDROME 8, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, BARTTER SYNDROME, TYPE 1, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, LOWE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?MECKEL SYNDROME 12, VISCERAL MYOPATHY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, BARTTER SYNDROME, TYPE 4B, DIGENIC, SECKEL SYNDROME 9, HYPERTHYROIDISM, NONAUTOIMMUNE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYOTUBULAR MYOPATHY, X-LINKED, ?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, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESCOBAR SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, METATROPIC DYSPLASIA, FEINGOLD SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CODAS SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME

CALM1, LMNA, NEU1, TRAIP, SEC24D, COL1A1, CHRNG, F5, DNM2, COL3A1, AGT, PPARG, COL5A1, ASCC1, UBA1, REN, ADGRG6, SLC17A5, COL6A3, CLASP1, NEK8, NPC1, EFEMP2, BMPER, POR, OCRL, ADCY6, SLC9A3, ATP6V0A2, SF3B4, WNT4, ACTA1, ACE, CHRND, DOK7, IL1RN, PLEC, ERBB3, ABCA12, CLCNKA, COL6A2, TRPV4, IGF2, NOS3, MYCN, MTM1, TTC37, BUB1B, RYR1, COL1A2, KIF5C, CBL, LONP1, COL2A1, KCNJ1, TALDO1, DNM1L, SOX9, EP300, FKBP14, TSHR, TNNT2, ATP8B1, BRAF, SLC26A3, SNAP25, SLC12A1, GPC3, ALPL, ITGA8, SHOC2, AGTR1, PIGY, FLT4, RIT1, PTH1R, FBLN5, CNTN1, SNRPB, RAPSN, CHRNA1, CRB2, SOX17, SLC26A2, INPPL1, KLF1, NPHS1, PIEZO1, ABCB4, MAP2K2, BSND, RPS19, MUSK, FGFR3, STS, CHRM3, AMER1, ITGA6, HRAS, GLE1, PIGA, CHRNE, NECAP1, ASXL1, KIF14, ITGB4, GATA6, DMPK, ORC1, COL6A1, FLVCR2, CNTNAP1, RPL11, ZMPSTE24, CLCNKB, FBN1, RET, PEX19, FGF20, MYH11, ALB, FLNB, SKIV2L

MYOTUBULAR MYOPATHY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, 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, ICHTHYOSIS, X-LINKED, CPT DEFICIENCY, HEPATIC, TYPE IA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, GREENBERG SKELETAL DYSPLASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, VISCERAL MYOPATHY, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, COLE-CARPENTER SYNDROME 2, BETHLEM MYOPATHY 1, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, SCHNECKENBECKEN DYSPLASIA, TRICHOHEPATOENTERIC SYNDROME 2, ?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, DIAMOND-BLACKFAN ANEMIA 7, OSTEOGENESIS IMPERFECTA, TYPE VII, MYOTONIC DYSTROPHY 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PETERS-PLUS SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, LYMPHEDEMA, HEREDITARY, III, DIAMOND-BLACKFAN ANEMIA 1, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, FIBROCHONDROGENESIS 1, SERKAL SYNDROME, SMITH-LEMLI-OPITZ SYNDROME

CALM1, PIGA, NECAP1, GPC3, ALPL, UPK3A, REN, ERBB3, SEC24D, COL1A1, LBR, SEPN1, AGTR1, PIGN, AGT, DHCR7, FLT4, TMCO1, PKLR, PPARG, F5, EBP, GMPPB, B3GLCT, COL6A1, COL11A1, RYR1, SOX9, EPHX1, COL5A1, RAPSN, NOS3, COL3A1, POR, CPT1A, DMPK, PLOD1, MEGF10, COL6A2, COL2A1, LMNA, COL5A2, CBL, RPL11, ALG1, NPHS1, GATA6, PIEZO1, ZMPSTE24, ABCB4, WNT4, DNM2, RET, CRTAP, PEX19, FKBP14, COL1A2, PIGY, RPS19, TSHR, STS, MUSK, MYH11, ALB, CNTN1, SLC35D1, ITGA6, CNTNAP1, COL6A3, HRAS, SNAP25, SKIV2L

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?PRUNE BELLY SYNDROME, NEMALINE MYOPATHY 9, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, 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, GLYCOGEN STORAGE DISEASE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIAMOND-BLACKFAN ANEMIA 7, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, MARFAN LIPODYSTROPHY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?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, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CEREBROCOSTOMANDIBULAR SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, COLE-CARPENTER SYNDROME 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, VISCERAL MYOPATHY, RENAL ADYSPLASIA, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, 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, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THANATOPHORIC DYSPLASIA, TYPE I, CARDIOFACIOCUTANEOUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, 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, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), SPINAL MUSCULAR ATROPHY-1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PREIMPLANTATION EMBRYONIC LETHALITY, RUBINSTEIN-TAYBI SYNDROME 2, MYOTUBULAR MYOPATHY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, VAN DEN ENDE-GUPTA SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, NEPHRONOPHTHISIS 2, INFANTILE, OSTEOGENESIS IMPERFECTA, TYPE II, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, EHLERS-DANLOS SYNDROME, TYPE IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, LOWE SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, CALM1, SOX9, HSD17B4, NEK8, CHRNE, TRPV4, REN, ERBB3, ACE, MAP2K2, BRAF, SNRPB, GBE1, SHOC2, FLT4, AGTR1, TLE6, PKLR, SLC9A3, KLHL41, LMNA, IGHMBP2, KLF1, GMPPB, AGT, RYR1, PPARG, CHRM3, NOS3, NEU1, CHRNA1, SEC24D, COL3A1, UBA1, ALB, INVS, INPPL1, DMPK, KIF5C, NPHP3, CNTNAP1, WDR60, CBL, NPHS1, SCARF2, RPL11, MTM1, CLASP1, IGF2, FBN1, COL1A1, DNM2, EP300, FGFR3, PEX19, ACTG2, HRAS, COL1A2, EFEMP2, POR, TSHR, TPM3, SNAP25, MUSK, MYH11, ADCY6, ATP8B1, CNTN1, NEB, ITGA6, RET, MEGF10, DNM1L, PAH, SF3B4, OCRL

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], GLYCOGEN STORAGE DISEASE IV, THANATOPHORIC DYSPLASIA, TYPE II, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), GAUCHER DISEASE, PERINATAL LETHAL, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, CHONDRODYSPLASIA, BLOMSTRAND TYPE, 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, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, CARDIOFACIOCUTANEOUS SYNDROME, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 7, 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, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES 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, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, BOHRING-OPITZ SYNDROME, NIEMANN-PICK DISEASE TYPE C1, ICHTHYOSIS, X-LINKED, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, DIAPHANOSPONDYLODYSOSTOSIS, PEROXISOME BIOGENESIS DISORDER 14B, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, WRINKLY SKIN SYNDROME, 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, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, LONG QT SYNDROME 15, ACHONDROGENESIS IB, MYOTONIC DYSTROPHY 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, KEUTEL SYNDROME, VAN DEN ENDE-GUPTA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, BARTTER SYNDROME, TYPE 1, TRICHOHEPATOENTERIC SYNDROME 1, LOWE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PREIMPLANTATION EMBRYONIC LETHALITY, NIEMANN-PICK DISEASE, TYPE C2, TRIFUNCTIONAL PROTEIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, VISCERAL MYOPATHY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, MUCOPOLYSACCHARIDOSIS VII, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, GENITOPATELLAR SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SECKEL SYNDROME 9, HYPERTHYROIDISM, NONAUTOIMMUNE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPILEPSY, PYRIDOXINE-DEPENDENT, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, METATROPIC DYSPLASIA, FEINGOLD SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1

CALM1, LMNA, DNM2, TRAIP, CNTNAP1, COL1A1, F5, COL3A1, GUSB, AGT, PMM2, PPARG, AGTR1, PPP1R3A, NPC1, UBA1, REN, MYH7, COL6A3, SCARF2, CLASP1, NEK8, PNPO, EFEMP2, BMPER, OCRL, ADCY6, SLC9A3, ATP6V0A2, SF3B4, WNT4, ACTA1, PLOD1, ACE, COL6A2, IL1RN, PLEC, ERBB3, ABCA12, GBE1, TRPV4, IGF2, PKLR, ALDH7A1, MYCN, MTM1, TTC37, BUB1B, RYR1, CHRM3, COL1A2, HADHA, KIF5C, CBL, COL2A1, SPINT2, TALDO1, KAT6B, SOX9, EP300, NEU1, FKBP14, PEX11B, TSHR, TNNT2, BRAF, SLC26A3, SNAP25, SLC12A1, GPC3, ALPL, ITGA8, SHOC2, COL5A1, FLT4, PTH1R, GMPPB, FBLN5, CNTN1, ASCC1, SNRPB, RAPSN, CHRNA1, HRAS, SLC26A2, INPPL1, HADHB, KLF1, NPHS1, SOX18, ABCB4, MAP2K2, PSAT1, RPS19, MUSK, FGFR3, STS, NPC2, ITGA6, SKIV2L, PAH, GLE1, PIGA, ASXL1, ITGB4, TLE6, GATA6, DMPK, UPK3A, ORC1, NOS3, COL6A1, WDR60, GBA, RPL11, ZMPSTE24, FBN1, RET, PEX19, FOXF1, ACTG2, CRB2, SARS2, MGP, MYH11, ALB, NEB, FLNB, TPM3

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], GLYCOGEN STORAGE DISEASE IV, NEMALINE MYOPATHY 9, THANATOPHORIC DYSPLASIA, TYPE II, BARTTER SYNDROME, TYPE 2, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, MYOTUBULAR MYOPATHY, X-LINKED, CHONDRODYSPLASIA, BLOMSTRAND TYPE, 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, TRANSALDOLASE DEFICIENCY, COLE-CARPENTER SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 7, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRICHOHEPATOENTERIC SYNDROME 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, NEPHRONOPHTHISIS 2, INFANTILE, ?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, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), BOHRING-OPITZ SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 3, MECKEL SYNDROME 11, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, DIAPHANOSPONDYLODYSOSTOSIS, PEROXISOME BIOGENESIS DISORDER 14B, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, VESICOURETERAL REFLUX 3, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, WRINKLY SKIN SYNDROME, 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, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MYOTONIC DYSTROPHY 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, LONG QT SYNDROME 15, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, NOONAN SYNDROME 8, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, GALLOWAY-MOWAT SYNDROME, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MARFAN LIPODYSTROPHY SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, NEPHROTIC SYNDROME, TYPE 1, MECKEL SYNDROME 1, ?MECKEL SYNDROME 12, VISCERAL MYOPATHY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, GENITOPATELLAR SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PERLMAN SYNDROME, 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}, BARTTER SYNDROME, TYPE 4B, DIGENIC, ADAMS-OLIVER SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, FIBROCHONDROGENESIS 1, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESCOBAR SYNDROME, 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, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PREIMPLANTATION EMBRYONIC LETHALITY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY

CALM1, LMNA, NEU1, COL1A1, MKS1, CHRNG, F5, COL3A1, AGT, PPARG, AGTR1, PPP1R3A, UBA1, REN, TMEM231, MYH7, COL6A1, CBL, CLASP1, DNM2, EFEMP2, BMPER, POR, WNT4, ADCY6, COL2A1, ATP6V0A2, SF3B4, SEC24D, ACTA1, PLOD1, ACE, CHRND, TRPV4, PLEC, ERBB3, MEGF10, MAP2K2, CLCNKA, COL6A2, IGF2, PKLR, MYCN, TTC37, BUB1B, RYR1, COL1A2, HADHA, KIF5C, DOCK6, CNTNAP1, KCNJ1, TALDO1, KAT6B, SOX9, EP300, ERCC5, FKBP14, TSHR, TNNT2, KLHL41, BRAF, SLC26A3, DNM1L, SNAP25, DIS3L2, ALPL, ITGA8, SHOC2, COL5A1, PIGY, FLT4, RIT1, PTH1R, GMPPB, PEX11B, CNTN1, ASCC1, SNRPB, RAPSN, CHRNA1, HRAS, SOX17, GBE1, INPPL1, HADHB, NPHP3, WDR35, KLF1, PEX3, NPHS1, SOX18, ABCB4, BSND, RPS19, MUSK, FGFR3, CHRM3, ITGA6, SKIV2L, PAH, GLE1, HSD17B4, CHRNE, INVS, NECAP1, ALDH18A1, ASXL1, KIF14, ITGB4, TLE6, COL5A2, GATA6, COL11A1, DMPK, ORC1, NOS3, KIAA0196, ZNF592, CPT1A, RPL11, COL6A3, CLCNKB, FBN1, RET, PEX19, FOXF1, ACTG2, CRB2, PIGA, MYH11, ALB, NEB, FLNB, TPM3

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, 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}, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, RENAL ADYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ESCOBAR SYNDROME

CALM1, CHRND, ALPL, CHRNE, MYH11, ITGA8, ERBB3, CHRNG, IGF2, ITGB4, FLT4, NOS3, PTH1R, CNTN1, AGTR1, CHRNA1, COL1A2, REN, CBL, ITGA6, CPT1A, MYCN, FBN1, RET, HRAS, TSHR, MUSK, TRPV4, AGT, COL2A1, SNAP25, SF3B4

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LONG QT SYNDROME 15, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MARFAN LIPODYSTROPHY SYNDROME, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI

PLOD1, CALM1, EFEMP2, COL2A1, ITGA8, SOX9, ALB, FBN1, ITGA6, COL1A1, COL5A1, ITGB4, MUSK, COL1A2

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], GLYCOGEN STORAGE DISEASE IV, NEMALINE MYOPATHY 9, THANATOPHORIC DYSPLASIA, TYPE II, BARTTER SYNDROME, TYPE 2, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, MYOTUBULAR MYOPATHY, X-LINKED, CHONDRODYSPLASIA, BLOMSTRAND TYPE, 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, TRANSALDOLASE DEFICIENCY, COLE-CARPENTER SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 7, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRICHOHEPATOENTERIC SYNDROME 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, NEPHRONOPHTHISIS 2, INFANTILE, ?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, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), BOHRING-OPITZ SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 3, MECKEL SYNDROME 11, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, DIAPHANOSPONDYLODYSOSTOSIS, PEROXISOME BIOGENESIS DISORDER 14B, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, VESICOURETERAL REFLUX 3, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, WRINKLY SKIN SYNDROME, 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, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MYOTONIC DYSTROPHY 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, LONG QT SYNDROME 15, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, NOONAN SYNDROME 8, SPINAL MUSCULAR ATROPHY-1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, GALLOWAY-MOWAT SYNDROME, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, LOWE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MARFAN LIPODYSTROPHY SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, NEPHROTIC SYNDROME, TYPE 1, MECKEL SYNDROME 1, ?MECKEL SYNDROME 12, VISCERAL MYOPATHY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, GENITOPATELLAR SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PERLMAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VII, 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}, BARTTER SYNDROME, TYPE 4B, DIGENIC, ADAMS-OLIVER SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, FIBROCHONDROGENESIS 1, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESCOBAR SYNDROME, 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, MEIER-GORLIN SYNDROME 1, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PREIMPLANTATION EMBRYONIC LETHALITY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CODAS SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY

CALM1, LMNA, NEU1, COL1A1, MKS1, CHRNG, F5, COL3A1, AGT, PPARG, COL5A1, ASCC1, UBA1, REN, TMEM231, MYH7, COL6A1, CBL, CLASP1, DNM2, EFEMP2, BMPER, POR, OCRL, ADCY6, COL2A1, ATP6V0A2, SF3B4, SEC24D, ACTA1, PLOD1, ACE, CHRND, TRPV4, PLEC, ERBB3, DOCK6, MAP2K2, CLCNKA, COL6A2, IGF2, PKLR, MYCN, TTC37, BUB1B, RYR1, COL1A2, HADHA, KIF5C, MEGF10, LONP1, CNTNAP1, KCNJ1, TALDO1, KAT6B, SOX9, EP300, CRTAP, ERCC5, FKBP14, TSHR, TNNT2, KLHL41, BRAF, SLC26A3, DNM1L, SNAP25, DIS3L2, ALPL, ITGA8, SHOC2, AGTR1, PIGY, FLT4, RIT1, PTH1R, GMPPB, PEX11B, CNTN1, PPP1R3A, SNRPB, RAPSN, CHRNA1, HRAS, SOX17, GBE1, INPPL1, HADHB, NPHP3, WDR35, KLF1, PEX3, NPHS1, SOX18, ABCB4, BSND, RPS19, MUSK, FGFR3, CHRM3, ITGA6, SKIV2L, PAH, GLE1, HSD17B4, CHRNE, INVS, IGHMBP2, NECAP1, ALDH18A1, ASXL1, KIF14, ITGB4, TLE6, COL5A2, GATA6, COL11A1, DMPK, ORC1, NOS3, KIAA0196, ZNF592, CPT1A, RPL11, COL6A3, CLCNKB, FBN1, RET, PEX19, FOXF1, ACTG2, CRB2, WNT4, PIGA, MYH11, ALB, NEB, FLNB, TPM3

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPILEPSY, PYRIDOXINE-DEPENDENT, GAUCHER DISEASE, PERINATAL LETHAL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ICHTHYOSIS, X-LINKED, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, TRIFUNCTIONAL PROTEIN DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CEREBROCOSTOMANDIBULAR SYNDROME, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BETHLEM MYOPATHY 1, MUCOPOLYSACCHARIDOSIS VII, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, TRICHOHEPATOENTERIC SYNDROME 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VII, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CODAS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VI, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FIBROCHONDROGENESIS 1, SERKAL SYNDROME

ACTA1, CALM1, ACE, GPC3, REN, ERBB3, SOX9, COL1A1, SNRPB, HSD17B4, COL6A2, FLT4, AGTR1, IGF2, PKLR, ALDH7A1, GATA6, GMPPB, GUSB, COL11A1, RYR1, PPARG, NOS3, RAPSN, COL3A1, COL6A1, ALB, HADHA, INPPL1, PLOD1, CBL, LONP1, ITGA6, LMNA, COL5A2, GBA, NEU1, CLASP1, DNM2, EP300, CRTAP, PEX19, COL5A1, HRAS, COL1A2, COL6A3, SARS2, STS, WNT4, MYH11, MUSK, ALDH18A1, FKBP14, AGT, CHRM3, COL2A1, F5, SF3B4, SKIV2L

VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NIEMANN-PICK DISEASE TYPE C1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, RENAL ADYSPLASIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, OPSISMODYSPLASIA, RENAL TUBULAR DYSGENESIS

CALM1, SOX9, DNM2, ALPL, FLT4, NOS3, AGT, PPARG, AGTR1, CRB2, INPPL1, KIF5C, CBL, NPHS1, FBN1, CLASP1, RET, NPC1, MYH11, ADCY6, HRAS, SF3B4

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EHLERS-DANLOS SYNDROME, TYPE VIIC, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPOPHOSPHATASIA, INFANTILE, MARFAN LIPODYSTROPHY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VII, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, RENAL ADYSPLASIA, KEUTEL SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, SERKAL SYNDROME

ACTA1, SOX9, COL6A2, ALPL, MYH11, ITGA8, ERBB3, COL1A1, COL5A2, IGF2, FLT4, NOS3, MYCN, CRTAP, AGT, PPARG, COL5A1, RAPSN, PKLR, COL6A1, FBLN5, ITGA6, COL3A1, NEU1, GATA6, FBN1, GPC3, FGFR3, COL1A2, HRAS, ADAMTS2, EFEMP2, BMPER, MGP, MUSK, TRPV4, COL2A1, COL6A3, SNAP25, WNT4

MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GAUCHER DISEASE, PERINATAL LETHAL, ICHTHYOSIS, X-LINKED, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, TRIFUNCTIONAL PROTEIN DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, VISCERAL MYOPATHY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BETHLEM MYOPATHY 1, MUCOPOLYSACCHARIDOSIS VII, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, TRICHOHEPATOENTERIC SYNDROME 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OSTEOGENESIS IMPERFECTA, TYPE VII, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CODAS SYNDROME, EPILEPSY, PYRIDOXINE-DEPENDENT, EHLERS-DANLOS SYNDROME, TYPE VI, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FIBROCHONDROGENESIS 1, SERKAL SYNDROME

ACTA1, CALM1, SOX9, F5, REN, LMNA, COL1A1, COL5A1, HSD17B4, COL6A2, GPC3, FLT4, AGTR1, PKLR, ALDH7A1, GATA6, GMPPB, GUSB, COL11A1, RYR1, PPARG, NOS3, COL3A1, COL6A1, ALB, HADHA, INPPL1, PLOD1, CBL, LONP1, ITGA6, COL5A2, GBA, NEU1, CLASP1, SNRPB, DNM2, CRTAP, PEX19, HRAS, COL1A2, WNT4, SARS2, STS, MUSK, MYH11, ALDH18A1, FKBP14, AGT, CHRM3, COL2A1, COL6A3, SKIV2L

?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, 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, ICHTHYOSIS, X-LINKED, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, TRIFUNCTIONAL PROTEIN DEFICIENCY, FEINGOLD SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, HYPERTHYROIDISM, NONAUTOIMMUNE, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LYMPHEDEMA, HEREDITARY, IA, PYRUVATE KINASE DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, NIEMANN-PICK DISEASE, TYPE C2, 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 TUBULAR DYSGENESIS, BETHLEM MYOPATHY 1, CARDIOFACIOCUTANEOUS SYNDROME, MUCOPOLYSACCHARIDOSIS VII, EHLERS-DANLOS SYNDROME, TYPE VIIC, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, GENITOPATELLAR SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, 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, KEUTEL SYNDROME, 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, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ?RENAL HYPODYSPLASIA/APLASIA 2, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, SERKAL SYNDROME

ACTA1, CALM1, SOX9, F5, TRPV4, REN, ERBB3, ACE, MAP2K2, COL5A1, COL5A2, COL6A2, GPC3, FLT4, AGTR1, ITGB4, IGF2, COL3A1, CNTN1, PTH1R, KLF1, FBLN5, COL11A1, BRAF, PPARG, CHRM3, NOS3, RAPSN, NPC1, COL6A1, IL1RN, HADHA, ITGA8, MEGF10, LONP1, COL2A1, SPINT2, CBL, NPHS1, MYCN, FBN1, STS, KAT6B, COL1A1, RET, EP300, FGFR3, NEU1, FOXF1, HRAS, GATA6, ADAMTS2, COL1A2, EFEMP2, BMPER, GUSB, TSHR, MGP, MUSK, MYH11, ALB, FGF20, AGT, NPC2, PKLR, ITGA6, CNTNAP1, COL6A3, CRB2, SNAP25, SF3B4, WNT4

?PRUNE BELLY SYNDROME, HYPOPHOSPHATASIA, INFANTILE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MECKEL SYNDROME 11, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LONG QT SYNDROME 15, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, CHONDRODYSPLASIA, BLOMSTRAND TYPE, METATROPIC DYSPLASIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, OPSISMODYSPLASIA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HYPERTHYROIDISM, NONAUTOIMMUNE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS

ACTA1, CALM1, SOX9, DNM2, ALPL, ITGA8, NOS3, PTH1R, AGT, AGTR1, RAPSN, INPPL1, CBL, CNTNAP1, NPHS1, FBN1, RET, PEX19, HRAS, TSHR, TRPV4, ATP8B1, CNTN1, CHRM3, TMEM231, SLC9A3, SLC26A3, SNAP25

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], THANATOPHORIC DYSPLASIA, TYPE II, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), GAUCHER DISEASE, PERINATAL LETHAL, BARTH SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, MYOTUBULAR MYOPATHY, X-LINKED, CHONDRODYSPLASIA, BLOMSTRAND TYPE, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, MEIER-GORLIN SYNDROME 1, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PETERS-PLUS SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, BOHRING-OPITZ SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, NIEMANN-PICK DISEASE TYPE C1, ICHTHYOSIS, X-LINKED, MECKEL SYNDROME 11, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, 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, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, PEROXISOME BIOGENESIS DISORDER 14B, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, YUNIS-VARON SYNDROME, WRINKLY SKIN SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, 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, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MYOTONIC DYSTROPHY 1, BETHLEM MYOPATHY 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, LONG QT SYNDROME 15, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, 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, VISCERAL MYOPATHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, SCHNECKENBECKEN DYSPLASIA, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, 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}, ACHONDROGENESIS, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, COLE-CARPENTER SYNDROME 2, ?PRUNE BELLY SYNDROME, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SIALIC ACID STORAGE DISORDER, INFANTILE, CPT DEFICIENCY, HEPATIC, TYPE IA, {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, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, DIAMOND-BLACKFAN ANEMIA 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, METATROPIC DYSPLASIA, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, 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, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME

CALM1, LMNA, DNM2, COL1A1, CPT2, F5, LBR, COL1A2, EBP, B3GLCT, AGT, PPARG, AGTR1, ASCC1, UBA1, TMEM231, SLC17A5, ALG1, CLASP1, NEU1, COQ7, NPC1, POR, MBTPS2, OCRL, ADCY6, COL2A1, ATP6V0A2, SF3B4, SEC24D, FIG4, ACTA1, ACE, WDR34, PLEC, ERBB3, MEGF10, ABCA12, TRPV4, IGF2, PKLR, MYCN, BUB1B, RYR1, EPHX1, HADHA, PLOD1, CBL, DNM1L, SOX9, EP300, FKBP14, TAZ, TSHR, TNNT2, BRAF, SLC26A3, SNAP25, PIGA, GPC3, ALPL, REN, SHOC2, SNRPB, PIGY, FLT4, TMCO1, PTH1R, GMPPB, PEX11B, CNTN1, TMEM70, RAPSN, CHRNA1, HADHB, KLF1, PEX3, NPHS1, PIEZO1, ABCB4, COX15, MAP2K2, RPS19, MUSK, FGFR3, STS, CHRM3, ITGA6, SKIV2L, PAH, GLE1, HSD17B4, PIGN, TRIP11, NECAP1, SEPN1, ALB, ASXL1, DHCR7, ITGB4, GATA6, DMPK, UPK3A, ORC1, NOS3, COL6A1, SLC35D1, GBA, CPT1A, RPL11, ZMPSTE24, FBN1, RET, PEX19, FLNB, HRAS, SARS2, MYH11, ALDH18A1, ACTG2, TPM3

MYOTUBULAR MYOPATHY, X-LINKED, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MUSCULAR DYSTROPHY, CONGENITAL, NEMALINE MYOPATHY 9, RESTRICTIVE DERMOPATHY, LETHAL, LONG QT SYNDROME 15, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, HYPOPHOSPHATASIA, INFANTILE, VISCERAL MYOPATHY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ATELOSTEOGENESIS, TYPE I

ACTA1, CALM1, MYH7, ALPL, DNM2, LMNA, TNNT2, RYR1, MYH11, ACE, KLHL41, COL2A1, AGT, NEB, PLEC, FLNB, SF3B4, TPM3, NOS3

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 15, OSTEOGENESIS IMPERFECTA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, DIAPHANOSPONDYLODYSOSTOSIS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, RENAL ADYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MARFAN LIPODYSTROPHY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

CALM1, COL3A1, EFEMP2, BMPER, COL2A1, FBLN5, COL5A2, COL11A1, ITGA8, ERBB3, SOX9, ALB, COL1A1, NEU1, FBN1, ITGA6, COL1A2, COL5A1, ITGB4, MUSK, NOS3

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, VISCERAL MYOPATHY, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIC, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METATROPIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MARFAN LIPODYSTROPHY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VII, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, KEUTEL SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, SERKAL SYNDROME

SOX9, MYH11, FBLN5, ERBB3, COL1A1, COL6A2, IGF2, FLT4, NOS3, GATA6, CRTAP, AGT, PPARG, RAPSN, COL1A2, COL6A1, ITGA8, ITGA6, FBN1, GPC3, FGFR3, ADAMTS2, BMPER, MGP, WNT4, TRPV4, COL2A1, COL6A3, MUSK

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OPSISMODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RENAL TUBULAR DYSGENESIS, PREIMPLANTATION EMBRYONIC LETHALITY, RUBINSTEIN-TAYBI SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ATELOSTEOGENESIS, TYPE I

ACTA1, CALM1, EFEMP2, AGT, RYR1, GATA6, CLASP1, MAP2K2, NOS3, HRAS, SOX9, EP300, TLE6, AGTR1, KIF5C, FLNB, INPPL1