cortical dysplasia-focal epilepsy syndrome

Term ID

DOID:0090130

Synonyms

• CDFE syndrome
• CDFES
• Pitt-Hopkins-like syndrome-1
• PTHSL1

Definition

A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. (2)

References

• ICD10CM:Q04.8
• MESH:C567657
• OMIM:610042
• ORDO:163681

Ontology

Human Disease   ( DOID:0090130 )