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cerebral palsy, spastic quadriplegic, 1

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Any spastic quadriplegia in which the cause of the disease is a mutation in the GAD1 gene.
Uniprot Description A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, mental retardation and sometimes epilepsy can be part of the clinical picture.
Mondo Term and Equivalent IDs
MONDO:0011329:  cerebral palsy, spastic quadriplegic, 1
GARD:0010447: 
MESH:C567853: 
UMLS:C2751938: