OBO ID: DOID:0080283
Term Name: developmental and epileptic encephalopathy 55 Search Ontology:
Synonyms:
  • DEE55
  • early infantile epileptic encephalopathy 55
  • glycosylphosphatidylinositol biosynthesis defect 14
  • GPIBD14
Definition: A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. (2)
References:
Ontology: Human Disease   (DOID:0080283)
OTHER developmental and epileptic encephalopathy 55 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIGP Developmental and epileptic encephalopathy 55 617599
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None