PRENATAL MANIFESTATIONS

Associated diseases: PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], GLYCOGEN STORAGE DISEASE IV, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, THANATOPHORIC DYSPLASIA, TYPE II, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), NEPHRONOPHTHISIS 2, INFANTILE, GAUCHER DISEASE, PERINATAL LETHAL, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, BARTH SYNDROME, NEMALINE MYOPATHY 9, 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, 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, NEMALINE MYOPATHY 10, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, MEIER-GORLIN SYNDROME 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NEU-LAXOVA SYNDROME 2, PETERS-PLUS SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ARTHROGRYPOSIS, DISTAL, TYPE 5D, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), BOHRING-OPITZ SYNDROME, BARTTER SYNDROME, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION, CEREBROOCULOFACIOSKELETAL SYNDROME 3, 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, ROIFMAN SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PYRUVATE KINASE DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, DIAPHANOSPONDYLODYSOSTOSIS, PEROXISOME BIOGENESIS DISORDER 14B, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, VESICOURETERAL REFLUX 3, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, ?RENAL HYPODYSPLASIA/APLASIA 2, YUNIS-VARON SYNDROME, NIEMANN-PICK DISEASE, TYPE C2, 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, PONTOCEREBELLAR HYPOPLASIA TYPE 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ACHONDROGENESIS IB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, KEUTEL SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, LONG QT SYNDROME 15, MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS, OSTEOGENESIS IMPERFECTA, TYPE II, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, 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, BARTTER SYNDROME, TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, WIEACKER-WOLFF SYNDROME, LOWE SYNDROME, ?PRUNE BELLY SYNDROME, LYMPHEDEMA, HEREDITARY, IA, MARFAN LIPODYSTROPHY SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, 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, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, ?MECKEL SYNDROME 12, VISCERAL MYOPATHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, MUCOPOLYSACCHARIDOSIS VII, EHLERS-DANLOS SYNDROME, TYPE VIIC, 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, GENITOPATELLAR SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PERLMAN SYNDROME, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, 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, SECKEL SYNDROME 9, ACHONDROGENESIS, TYPE IA, 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, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, VAN DEN ENDE-GUPTA SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, NIEMANN-PICK DISEASE TYPE C1, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPILEPSY, PYRIDOXINE-DEPENDENT, 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, RESTRICTIVE DERMOPATHY, LETHAL, 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, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, CAUDAL REGRESSION SYNDROME, HYDATIDIFORM MOLE, RECURRENT, 2, 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, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME

Associated genes: CALM1, LMNA, NEK8, WDR73, TRAIP, CNTNAP1, COL1A1, CPT2, CHRNG, NEK1, F5, LBR, COL3A1, EBP, B3GLCT, AGT, PMM2, PPARG, AGTR1, PPP1R3A, NPC1, UBA1, ALB, VANGL1, ITGA8, TRIP4, ADGRG6, SLC17A5, COL6A3, CBL, ALG1, IBA57, CLASP1, TRIP11, DNM2, COQ7, PNPO, EFEMP2, BMPER, POR, MBTPS2, OCRL, ECEL1, MKS1, ADCY6, CCDC174, SLC9A3, ATP6V0A2, SF3B4, MUSK, FIG4, ACTA1, PLOD1, ACE, HSD17B4, PIGY, DOK7, TRPV4, FBLN5, ERBB3, DOCK6, ABCA12, CHRND, CLCNKA, MYH7, COL6A2, IGF2, FLT4, NOS3, ALDH7A1, MYCN, TTC7A, PIEZO1, KCNJ1, TTC37, COL6A1, BUB1B, WDR34, RYR1, EPHX1, CHRM3, DIS3L2, COL1A2, ZBTB42, HADHA, KIF5C, KHDC3L, LONP1, MTM1, SPINT2, PTH1R, TALDO1, KAT6B, LMOD3, EP300, CRTAP, NEU1, ERCC5, FKBP14, ADAMTS2, TAZ, TSHR, TNNT2, CLCNKB, ATP8B1, BRAF, SLC26A3, DNM1L, SNAP25, SLC12A1, ISPD, CALM2, TAPT1, GPC3, ALPL, KIF14, SHOC2, KIAA0586, COL5A1, PLEC, FGF20, TMCO1, PEX19, RNU4ATAC, TSFM, GMPPB, PEX11B, CNTN1, BRAT1, SOX9, ASCC1, TMEM70, RAPSN, CHRNA1, CRB2, SOX17, IL1RN, GBE1, INPPL1, HADHB, NPHP3, PSAT1, WDR35, WDR62, PEX3, NPHS1, SOX18, ABCB4, COX15, MAP2K2, BSND, PIGA, RPS19, TPM3, SEC24D, FGFR3, SMN1, STS, NPC2, AMER1, TMEM231, ITGA6, PAH, GUSB, COL2A1, GLE1, ZC4H2, SLC26A2, CHRNE, PIGN, INVS, IGHMBP2, NECAP1, SEPN1, KLHL41, ASXL1, DHCR7, ITGB4, TLE6, COL5A2, GATA6, KLF1, COL11A1, DMPK, UPK3A, ORC1, PKLR, KIAA0196, SCARF2, FLVCR2, ZNF592, REN, WDR60, GBA, CPT1A, RPL11, ZMPSTE24, STRADA, SNRPB, FBN1, RET, RIT1, FOXF1, FLNB, HRAS, TSEN54, WNT4, SARS2, MGP, MYH11, ALDH18A1, NEB, SLC35D1, MEGF10, ACTG2, SKIV2L