| Metadata | |
|---|---|
| ID | DOID:0080567 |
| Name | congenital disorder of glycosylation Ip |
| Definition | A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. https://www.ncbi.nlm.nih.gov/pubmed/22213132 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital disorder of glycosylation 1p [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some bleeding has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some vomiting |