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Metadata
DOID DOID:0080415
Name early infantile epileptic encephalopathy 23
Definition An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.
https://www.ncbi.nlm.nih.gov/pubmed/24814191
Synonyms

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome [EXACT]

Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome [EXACT]

Xrefs

OMIM:615859

ORDO:411986

Relationships

is_a early infantile epileptic encephalopathy

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