| Disease ID | Source | Name | Description |
| 218330 | OMIM | Cranioectodermal dysplasia 1 (CED1) | A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails. The disease is caused by variants affecting the gene represented in this entry. |