Spasticity, Childhood-Onset, with Hyperglycinemia (SPAHGC)

Alias:

Spasticity-Ataxia-Gait Anomalies Syndrome

Spahgc

Childhood-Onset Spasticity with Variant Non-Ketotic Hyperglycinemia

Childhood-Onset Spasticity with Hyperglycinemia

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spasticity, Childhood-Onset, with Hyperglycinemia, is also known as spasticity-ataxia-gait anomalies syndrome. An important gene associated with Spasticity, Childhood-Onset, with Hyperglycinemia is GLRX5 (Glutaredoxin 5). Affiliated tissues include spinal cord, and related phenotypes are progressive spasticity and nonketotic hyperglycinemia

Related ID：

MALACARDS：SPS211

OMIM：616859

MESH：D020158