oculotrichodysplasia
MONDO:0009771Mondo
Findings
No curated finding names oculotrichodysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009771), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: oculotrichodysplasia
- Also called
- Cecato de Lima-Pinheiro syndrome