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Metadata
ID DOID:0090130
Name cortical dysplasia-focal epilepsy syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/27439707, https://www.omim.org/entry/610042
Xrefs

ICD10CM:Q04.8

OMIM:610042

ORDO:163681

Synonyms

CDFE syndrome [EXACT]

CDFES [EXACT]

Pitt-Hopkins-like syndrome-1 [EXACT]

PTHSL1 [EXACT]

Parent Relationships

is_a brain disease

is_a autosomal recessive disease

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