Disease ID | Source | Name | Description |
617672 | OMIM | Neurodegeneration, childhood-onset, with brain atrophy (CONDBA) | An autosomal dominant neurodegenerative disease with onset in childhood, characterized by progressive cortical atrophy, developmental delay, developmental regression, loss of motor skills and ambulation, absence of language, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry. |