Disease ID | Source | Name | Description |
617008 | OMIM | Cerebral palsy, spastic quadriplegic 3 (CPSQ3) | A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment. The disease is caused by variants affecting the gene represented in this entry. |