OBO ID: DOID:0080470
Term Name: developmental and epileptic encephalopathy 36 Search Ontology:
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:
OTHER developmental and epileptic encephalopathy 36 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALG13 Developmental and epileptic encephalopathy 36 300884
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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