OBO ID: DOID:0060848
Term Name: developmental and epileptic encephalopathy 9 Search Ontology:
Synonyms:
  • DEE9
  • early infantile epileptic encephalopathy 9
  • early infantile female-limited epilecptic encephalopathy
  • EFMR
  • EIEE9
  • female restricted epilepsy with mental retardation
  • Juberg Hellman syndrome
Definition: A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. (3)
References:
Ontology: Human Disease   ( DOID:0060848 )
OTHER developmental and epileptic encephalopathy 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PCDH19 Developmental and epileptic encephalopathy 9 300088
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None