Term Name: | congenital disorder of glycosylation Id |
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Synonyms: | congenital disorder of glycosylation 1d |
Definition: | A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. |
Ontology: | Human Disease [DOID:0080556] ( DOID:0080556 ) |