" /> Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - CISMeF





Preferred Label : Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive;

Symbol : HSNSP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chaperonin-containing t-complex peptide-1 subunit 5 gene (CCT5, 610150.0001);

Laboratory abnormalities : Decreased plasma apolipoprotein B (APOB, 107730); Decreased plasma triglycerides; Decreased plasma total cholesterol;

Prefixed ID : #256840;

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03/05/2025


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