| Disease ID | Source | Name | Description |
| 615273 | OMIM | Congenital disorder of deglycosylation (CDDG) | A multisystem disorder characterized by developmental delay, hypotonia, abnormal involuntary movements and alacrima or poor tear production. Other features include microcephaly, intractable seizures, abnormal eye movements and evidence of liver dysfunction, probably due to cytoplasmic accumulation of storage material in vacuoles. The disease is caused by variants affecting the gene represented in this entry. |