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Human Disease

congenital disorder of glycosylation If

Term ID
DOID:0080558
Synonyms
  • congenital disorder of glycosylation 1f
Definition
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/11733556
References
Ontology
Human Disease   ( DOID:0080558 )
Relationships
is a type of
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Genes Involved
Zebrafish Models