Phenotype: Neonatal death (HP:0003811)
Associated genes and diseases:
gene_symbol: FGFR3
disease_id: OMIM:187601
disease_name: THANATOPHORIC DYSPLASIA, TYPE II
gene_symbol: FGFR3
disease_id: OMIM:187600
disease_name: THANATOPHORIC DYSPLASIA, TYPE I
gene_symbol: FGFR3
disease_id: OMIM:616482
disease_name: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: FGG
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGA
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGB
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: CNOT1
disease_id: OMIM:618500
disease_name: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS
gene_symbol: CNTNAP1
disease_id: OMIM:618186
disease_name: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
gene_symbol: ADCY6
disease_id: OMIM:616287
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 8
gene_symbol: LMOD3
disease_id: OMIM:616165
disease_name: NEMALINE MYOPATHY 10
gene_symbol: JAM3
disease_id: OMIM:613730
disease_name: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
gene_symbol: HADHB
disease_id: OMIM:620300
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
gene_symbol: ACTA1
disease_id: OMIM:620265
disease_name: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE
gene_symbol: PPFIBP1
disease_id: OMIM:620024
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
gene_symbol: GBA1
disease_id: OMIM:608013
disease_name: GAUCHER DISEASE, PERINATAL LETHAL
gene_symbol: GBA1
disease_id: ORPHA:85212
disease_name: Fetal Gaucher disease
Perinatal lethal Gaucher disease
gene_symbol: TARS2
disease_id: OMIM:615918
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
gene_symbol: FLNB
disease_id: OMIM:112310
disease_name: BOOMERANG DYSPLASIA
gene_symbol: FLNB
disease_id: OMIM:108720
disease_name: ATELOSTEOGENESIS, TYPE I
gene_symbol: SDHD
disease_id: OMIM:619167
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: NDUFS6
disease_id: OMIM:618232
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
gene_symbol: EFEMP2
disease_id: OMIM:614437
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
gene_symbol: NDUFAF4
disease_id: OMIM:618237
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
gene_symbol: ATP1A2
disease_id: OMIM:619602
disease_name: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
gene_symbol: RARB
disease_id: OMIM:615524
disease_name: MICROPHTHALMIA, SYNDROMIC 12
gene_symbol: PLEC
disease_id: OMIM:612138
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA
gene_symbol: GLE1
disease_id: OMIM:253310
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
gene_symbol: GLE1
disease_id: OMIM:611890
disease_name: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
gene_symbol: FAM20C
disease_id: OMIM:259775
disease_name: RAINE SYNDROME
gene_symbol: SFTPB
disease_id: OMIM:265120
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1
gene_symbol: PLS3
disease_id: OMIM:306950
disease_name: DIAPHRAGMATIC HERNIA 5, X-LINKED
gene_symbol: NDUFB11
disease_id: OMIM:301021
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30
gene_symbol: NEB
disease_id: OMIM:619334
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6
gene_symbol: PET100
disease_id: OMIM:619055
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: CDK5
disease_id: OMIM:616342
disease_name: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
gene_symbol: PAICS
disease_id: OMIM:619859
disease_name: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
gene_symbol: GET3
disease_id: OMIM:620203
disease_name: CARDIOMYOPATHY, DILATED, 2H
gene_symbol: CTSD
disease_id: OMIM:610127
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 10
gene_symbol: WT1
disease_id: OMIM:194080
disease_name: DENYS-DRASH SYNDROME
gene_symbol: WT1
disease_id: OMIM:608978
disease_name: MEACHAM SYNDROME
gene_symbol: ABCA3
disease_id: OMIM:610921
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
gene_symbol: SUCLG1
disease_id: OMIM:245400
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
gene_symbol: EDNRB
disease_id: OMIM:600501
disease_name: ABCD SYNDROME
gene_symbol: TMEM70
disease_id: OMIM:614052
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: ATAD3A
disease_id: OMIM:618810
disease_name: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: MRPS16
disease_id: OMIM:610498
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2
gene_symbol: GLUL
disease_id: OMIM:610015
disease_name: GLUTAMINE DEFICIENCY, CONGENITAL
gene_symbol: ALG8
disease_id: OMIM:608104
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
gene_symbol: AP1S1
disease_id: OMIM:609313
disease_name: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: DONSON
disease_id: OMIM:251230
disease_name: MICROCEPHALY-MICROMELIA SYNDROME
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
gene_symbol: TBXT
disease_id: OMIM:615709
disease_name: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
gene_symbol: RBM10
disease_id: OMIM:311900
disease_name: TARP SYNDROME
gene_symbol: ABCA12
disease_id: OMIM:242500
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
gene_symbol: IL6ST
disease_id: OMIM:619751
disease_name: STUVE-WIEDEMANN SYNDROME 2
gene_symbol: PKHD1
disease_id: OMIM:263200
disease_name: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: CEP55
disease_id: OMIM:236500
disease_name: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY
gene_symbol: NUP88
disease_id: OMIM:618393
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 4
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: MBTPS2
disease_id: ORPHA:85284
disease_name: BRESEK syndrome
BRESHECK syndrome
gene_symbol: ZIC3
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: FANCB
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: GAD1
disease_id: OMIM:619124
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89
gene_symbol: NDUFB10
disease_id: OMIM:619003
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35
gene_symbol: SLC25A4
disease_id: OMIM:617184
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
gene_symbol: LMOD1
disease_id: OMIM:619362
disease_name: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3
gene_symbol: NPHP3
disease_id: OMIM:208540
disease_name: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
gene_symbol: PEX10
disease_id: OMIM:614870
disease_name: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
gene_symbol: QRSL1
disease_id: OMIM:618835
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40
gene_symbol: PIP5K1C
disease_id: OMIM:611369
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 3
gene_symbol: GATC
disease_id: OMIM:618839
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SCN4A
disease_id: OMIM:620351
disease_name: CONGENITAL MYOPATHY 22A, CLASSIC
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: RAD51C
disease_id: OMIM:613390
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP O
gene_symbol: HSPG2
disease_id: OMIM:224410
disease_name: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: LMOD2
disease_id: OMIM:619897
disease_name: CARDIOMYOPATHY, DILATED, 2G
gene_symbol: ITGA6
disease_id: OMIM:619817
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA
gene_symbol: RMND1
disease_id: OMIM:614922
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
gene_symbol: PEX14
disease_id: OMIM:614887
disease_name: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
gene_symbol: ZMPSTE24
disease_id: OMIM:275210
disease_name: RESTRICTIVE DERMOPATHY, LETHAL
gene_symbol: THSD1
disease_id: OMIM:620244
disease_name: LYMPHATIC MALFORMATION 13
gene_symbol: DSP
disease_id: OMIM:609638
disease_name: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: AARS2
disease_id: OMIM:614096
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
gene_symbol: GPHN
disease_id: OMIM:615501
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C
gene_symbol: HTRA2
disease_id: OMIM:617248
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
gene_symbol: INTU
disease_id: OMIM:617925
disease_name: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
gene_symbol: ATP5F1A
disease_id: OMIM:615228
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: MDFIC
disease_id: OMIM:620014
disease_name: LYMPHATIC MALFORMATION 12
gene_symbol: ETFDH
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFA
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFB
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY