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cerebral palsy, spastic quadriplegic, 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0014862:  cerebral palsy, spastic quadriplegic, 3
UMLS:C4310767: