PNPLA6-related spastic paraplegia with or without ataxia
Findings
No curated finding names PNPLA6-related spastic paraplegia with or without ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.
Definition from the Mondo Disease Ontology (MONDO:0100149), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PNPLA6HGNC:16268
- Definitive · ClinGen · Autosomal recessive · 2022
Where it sits
- A kind of