| Disease ID | Source | Name | Description |
| 606056 | OMIM | Type IIb congenital disorder of glycosylation (CDGIIb) | Characterized by marked generalized hypotonia and hypomotility of the neonate, dysmorphic features, including a prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia. Symptoms of the infant included hepatomegaly, hypoventilation, feeding problems and seizures. The clinical course was progressive and the infant did not survive more than a few months. The disease is caused by variants affecting the gene represented in this entry. |