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Metadata
ID DOID:0051052
Name congenital disorder of glycosylation type IIy
Definition A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22.
https://pubmed.ncbi.nlm.nih.gov/32395830/
Xrefs

MIM:620200

Parent Relationships

is_a congenital disorder of glycosylation type II

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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