TOR1AIP1-related multisystem disorder
Findings
No curated finding names TOR1AIP1-related multisystem disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
TOR1AIP1-related multisystem disorder is a rare, early-onset disorder affecting multiple organ systems that is caused by variation in the TOR1AIP1 gene. Clinical features reported in affected individuals are variable but may include hypotonia, dystonia, cerebellar atrophy, contractures, cardiomyopathy, microcephaly, cataract, deafness, skeletal anomalies, progeroid appearance and other facial dysmorphism, and nephrolithiasis.
Definition from the Mondo Disease Ontology (MONDO:0100591), 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.
- TOR1AIP1HGNC:29456
- Definitive · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of