Metadata | |
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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/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |