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spasticity-ataxia-gait anomalies syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive disorder characterized by childhood-onset of spasticity, spinal lesions, leukodystrophy, optic atrophy in some patients, non-ketotic hyperglycinemia, and defective enzymatic glycine cleavage. Glycine levels in the cerebrospinal fluid are mildly increased in some but not all patients. The increase is less pronounced than in patients with classic non-ketotic hyperglycinemia.
Mondo Term and Equivalent IDs
MONDO:0014803:  spasticity-ataxia-gait anomalies syndrome
Orphanet:401866: 
UMLS:C4225178: