Features include always present findings: Premature ovarian insufficiency, Dysmetria, Distal amyotrophy, and Low muscle tone (hypotonia) and others; and common findings: Reduced visual acuity, Frequent falls, Limited extraocular movements, and Cerebellar vermis atrophy and others.

CHP1 encodes calcineurin like EF-hand protein 1 (195 aa). Calcium-binding protein involved in different processes such as regulation of vesicular trafficking, plasma membrane Na(+)/H(+) exchanger and gene transcription. Highest expression in Esophagus Mucosa (91.8 TPM) and Lung (81.3 TPM).

Spastic ataxia 9, autosomal recessive is associated with mutations in the CHP1 gene on chromosome 15.

The CHP1 protein participates in HYAL2 hydrolyses HA into 20kDa fragments pathway.

CHP1 is classified as a druggable target (Kinase category) with score 0.0.

Genetic testing for CHP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spastic ataxia 9, autosomal recessive has been reported in the published literature.

Phenotype severity distribution: 16 always present features, 7 common features.

No clinical trials have been registered for spastic ataxia 9, autosomal recessive.

10 publications have been identified in PubMed for spastic ataxia 9, autosomal recessive. Research spans Case Report / Case Series (30%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).