C190870Level 9
Spastic Paraplegia 56
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the CYP2U1 gene, encoding cytochrome P450 2U1.
**Synonyms:** - Autosomal Recessive Spastic Paraplegia-56 with or without Pseudoxanthoma Elasticum - SPG56
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