| Disease ID | Source | Name | Description |
| 271900 | OMIM | Canavan disease (CAND) | A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demyelination that gives rise to a spongy appearance. The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average. The disease is caused by variants affecting the gene represented in this entry. |