retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
MONDO:0014495Mondo
Findings
No curated finding names retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 3 of 3 reported patients
- CataractHPOHP:0000518
- 3 of 3 reported patients · Juvenile onset
- Dental malocclusionHPOHP:0000689
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- NyctalopiaHPOHP:0000662
- 3 of 3 reported patients · Juvenile onset
- Retinal dystrophyHPOHP:0000556
- 3 of 3 reported patients
- Retinal pigment epithelial atrophyHPOHP:0007722
- 3 of 3 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Spicular pigmentation of the retinaHPOHP:0007737
- 3 of 3 reported patients
- Underdeveloped nasal alaeHPOHP:0000430
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 22
- Upslanted palpebral fissureHPOHP:0000582
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Widely spaced teethHPOHP:0000687
- 3 of 3 reported patients
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Juvenile cataractHPOHP:0001118
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
- Progressive night blindnessHPOHP:0007675
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.
- RDH11HGNC:17964
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · G2P · Autosomal recessive · 2017
Where it sits
- A kind of
Other names
1 name
Resolves to: retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
- Also called
- retinal dystrophy-juvenile cataract-short stature syndrome