Disease ID | Source | Name | Description |
600373 | OMIM | CODAS syndrome (CODASS) | A rare syndrome characterized by the combination of cerebral, ocular, dental, auricular, and skeletal features. These include developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts. The disease is caused by variants affecting the gene represented in this entry. |