OBO ID: DOID:0112213
Term Name: developmental and epileptic encephalopathy 77 Search Ontology:
Synonyms:
  • DEE77
  • early infantile epileptic encephalopathy 77
  • glycosylphosphatidylinositol biosynthesis defect 19
  • GPIBD19
  • MCAHS4
  • multiple congenital anomalies-hypotonia-seizures syndrome-4
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in PIGQ on chromosome 16p13.3. https://pubmed.ncbi.nlm.nih.gov/31148362/
References:
Ontology: Human Disease   (DOID:0112213)
OTHER developmental and epileptic encephalopathy 77 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIGQ Multiple congenital anomalies-hypotonia-seizures syndrome 4 618548
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None