Disease ID | Source | Name | Description |
617527 | OMIM | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) | An autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, spastic quadriparesis, global developmental delay, profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. The disease is caused by variants affecting the gene represented in this entry. |