Metadata | |
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ID | DOID:0051049 |
Name | congenital disorder of glycosylation type IIt |
Definition | A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. https://pubmed.ncbi.nlm.nih.gov/32293671/ |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |