INTU-related skeletal ciliopathy
MONDO:1060154Mondo
Findings
No curated finding names INTU-related skeletal ciliopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A skeletal ciliopathy caused by a mutation in INTU gene and is characterized by facial dysmorphism, tongue nodules, developmental delay, and polydactyly. Some individuals may also present with short stature, or other variable syndromic findings.
Definition from the Mondo Disease Ontology (MONDO:1060154), 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.
- INTUHGNC:29239
- Definitive · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of