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Metadata
ID DOID:0080349
Name developmental and epileptic encephalopathy 39
Definition A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.
https://pubmed.ncbi.nlm.nih.gov/19641205/, https://pubmed.ncbi.nlm.nih.gov/24515575/, https://www.omim.org/entry/612949?search=612949
Xrefs

OMIM:612949

ORDO:353217

Alternateids

DOID:0080423

Synonyms

AGC1 deficiency [EXACT]

early infantile epileptic encephalopathy 39 [EXACT]

epileptic encephalopathy with global cerebral demyelination [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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