Visualize Submit Comment
Metadata
ID DOID:0080470
Name developmental and epileptic encephalopathy 36
Definition A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
https://www.ncbi.nlm.nih.gov/pubmed/23033978, https://www.ncbi.nlm.nih.gov/pubmed/26138355
Xrefs

GARD:12401

OMIM:300884

ORDO:324422

Synonyms

congenital disorder of glycosylation, type Is [EXACT]

early infantile epileptic encephalopathy 36 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a X-linked dominant disease

Add an item to the term tracker