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Metadata
ID	DOID:0060990
Name	congenital disorder of deglycosylation 2
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/
Xrefs	MIM:619775
Parent Relationships	is_a congenital disorder of deglycosylation is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance