1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0080567 | congenital disorder of glycosylation Ip | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050570 | congenital disorder of glycosylation type I | A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. |
