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ZIRC
OBO ID: DOID:0080555
Term Name: congenital disorder of glycosylation Ic Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1c
Definition: A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. (2)
References:
Ontology: Human Disease   (DOID:0080555)
OTHER congenital disorder of glycosylation Ic PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALG6 Congenital disorder of glycosylation, type Ic 603147
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None