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Features include always present findings: Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal interstitial fibrosis, and Reduced kidney function (renal insufficiency) and others; and common findings: Strabismus, Portal fibrosis, Autistic behavior, and Ptosis.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 6 | Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal interstitial fibrosis |
RPGRIP1L function has not been fully characterized.
COACH syndrome 3 is associated with mutations in the RPGRIP1L gene on chromosome 16.
Genetic testing for RPGRIP1L is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 12 always present features, 4 common features.
No clinical trials have been registered for COACH syndrome 3.
3 publications have been identified in PubMed for COACH syndrome 3. Kisho has analyzed 2 by research type. Research spans Case Report / Case Series (100%).
Lucas SAM (2025). [PMID: 40330260](https://pubmed.ncbi.nlm.nih.gov/40330260/). *Clin Case Rep*. [Case Report / Case Series]
Xu H (2024). [PMID: 39479399](https://pubmed.ncbi.nlm.nih.gov/39479399/). *Front Genet*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about COACH syndrome 3
Eyes | 3 | Strabismus, Ptosis, Oculomotor apraxia |
Brain and nerves | 3 | Global developmental delay, Ataxia, Autistic behavior |
Muscles | 2 | Generalized hypotonia, Renal tubular atrophy |
Blood and immune system | 1 | Low red blood cell count (anemia) |