Term Name: | congenital disorder of glycosylation Iw |
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Synonyms: | congenital disorder of glycosylation 1w |
Definition: | A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. |
Ontology: | Human Disease [DOID:0080572] ( DOID:0080572 ) |