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Human Disease

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
Ontology
Human Disease   ( DOID:0080470 )
Relationships
is a type of
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Genes Involved
Zebrafish Models