congenital disorder of deglycosylation 2

Term ID

DOID:0060990

Synonyms

Definition

A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24. https://pubmed.ncbi.nlm.nih.gov/35045343/

References

• MIM:619775

Ontology

Human Disease   ( DOID:0060990 )