| Metadata | |
|---|---|
| ID | DOID:0080564 |
| Name | congenital disorder of glycosylation Il |
| Definition | A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/26453364 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital disorder of glycosylation 1l [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some left upper quadrant abdominal rigidity has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |