congenital disorder of glycosylation Ic

Term ID

DOID:0080555

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

GARD:9829
OMIM:603147
ORDO:79320

Ontology

Human Disease ( DOID:0080555 )

Relationships

is a type of: autosomal recessive disease congenital disorder of glycosylation type I

autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations