developmental and epileptic encephalopathy 9

Term ID

DOID:0060848

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

• GARD:10806
• OMIM:300088
• ORDO:101039

Ontology

Human Disease   ( DOID:0060848 )