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Metadata
ID DOID:0080415
Name developmental and epileptic encephalopathy 23
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features 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
Xrefs

OMIM:615859

ORDO:411986

Synonyms

DEE23 [EXACT]

early infantile epileptic encephalopathy 23 [EXACT]

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

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

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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