OBO ID: DOID:0080457
Term Name: microcephaly, seizures, and developmental delay Search Ontology:
Synonyms:
  • developmental and epileptic encephalopathy 10
  • early infantile epileptic encephalopathy 10
Definition: A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (2)
References:
Ontology: Human Disease   (DOID:0080457)
OTHER microcephaly, seizures, and developmental delay PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PNKP Microcephaly, seizures, and developmental delay 613402
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None