developmental and epileptic encephalopathy 36

Term ID

DOID:0080470

Synonyms

• congenital disorder of glycosylation, type Is
• early infantile 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. (2)

References

• GARD:12401
• MIM:300884
• ORDO:324422

Ontology

Human Disease   ( DOID:0080470 )