OBO ID: DOID:0080451
Term Name: developmental and epileptic encephalopathy 29 Search Ontology:
Synonyms:
  • DEE29
  • early infantile epileptic encephalopathy 29
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22. https://www.ncbi.nlm.nih.gov/pubmed/25817015
References:
Ontology: Human Disease   (DOID:0080451)
OTHER developmental and epileptic encephalopathy 29 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AARS1 Developmental and epileptic encephalopathy 29 616339
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None