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Metadata
ID DOID:0112212
Name developmental and epileptic encephalopathy 76
Definition A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in ACTL6B on chromosome 7q22.1.
https://pubmed.ncbi.nlm.nih.gov/31031012/
Xrefs

OMIM:618468

Synonyms

DECAM [EXACT]

DEE76 [EXACT]

developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination [EXACT]

early infantile epileptic encephalopathy 76 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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