Term Name: | congenital disorder of glycosylation type IIy |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0051052] ( DOID:0051052 ) |