congenital disorder of glycosylation type IIv

Term ID

DOID:0051050

Synonyms

Definition

A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. https://pubmed.ncbi.nlm.nih.gov/34143952/

References

MIM:619493

Ontology

Human Disease ( DOID:0051050 )

Relationships

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

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

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Genes Involved

Zebrafish Models