| Disease ID | Source | Name | Description |
| 615760 | OMIM | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) | A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia. The disease is caused by variants affecting the gene represented in this entry. |