Genes associated with “neonatal seizures”
Some sources returned errors (2)
omim: Error: OMIM search: 429
omimClinSyn: Error: OMIM CS: 429
How are genes scored? (0–100 composite)
Strong Candidates
10 genesholoprosencephaly 12 with or without pancreatic agenesis
Consider
26 genesperoxisome biogenesis disorder 6A (Zellweger)
peroxisome biogenesis disorder 13A (Zellweger)
combined oxidative phosphorylation defect type 21
polycystic kidney disease 4
lethal acantholytic epidermolysis bullosa
congenital brain dysgenesis due to glutamine synthetase deficiency
mitochondrial complex III deficiency nuclear type 1
Possible
117 genes — click to expand
restrictive dermopathy 1
interstitial lung disease due to ABCA3 deficiency
VACTERL association, X-linked, with or without hydrocephalus
Denys-Drash syndrome
microphthalmia, syndromic 12
Fanconi anemia complementation group O
TARP syndrome
mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
nemaline myopathy 10
multiple mitochondrial dysfunctions syndrome 1
congenital myopathy 2b, severe infantile, autosomal recessive
cutis laxa, autosomal recessive, type 1B
short-rib thoracic dysplasia 20 with polydactyly
cardiomyopathy, dilated, 2G
mitochondrial complex I deficiency, nuclear type 9
epidermolysis bullosa simplex 5C, with pyloric atresia
surfactant metabolism dysfunction, pulmonary, 1
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
mitochondrial DNA depletion syndrome 9
alveolar capillary dysplasia with misalignment of pulmonary veins
Gaucher disease perinatal lethal
Silverman-Handmaker type dyssegmental dysplasia
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
mitochondrial complex I deficiency, nuclear type 15
mitochondrial complex I deficiency, nuclear type 30
mitochondrial complex IV deficiency, nuclear type 12
mitochondrial complex 2 deficiency, nuclear type 3
Fontaine progeroid syndrome
arthrogryposis multiplex congenita 6
mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
combined oxidative phosphorylation defect type 8
congenital afibrinogenemia
congenital afibrinogenemia
congenital afibrinogenemia
ALG8-congenital disorder of glycosylation
Neu-Laxova syndrome 1
IFAP syndrome 1, with or without BRESHECK syndrome
neuronal ceroid lipofuscinosis 10
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
mitochondrial trifunctional protein deficiency 2
3-methylglutaconic aciduria type 8
combined oxidative phosphorylation defect type 11
congenital myopathy 22A, classic
ABCD syndrome
mitochondrial complex 1 deficiency, nuclear type 35
VACTERL association, X-linked, with or without hydrocephalus
MEDNIK syndrome
NADH:ubiquinone oxidoreductase subunit S4
palmitoyl-protein thioesterase 1
cardiomyopathy, dilated, 2H
multiple acyl-CoA dehydrogenase deficiency
multiple acyl-CoA dehydrogenase deficiency
multiple acyl-CoA dehydrogenase deficiency
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.