intellectual developmental disorder and retinitis pigmentosa; IDDRP
MONDO:0032594Mondo
Findings
No curated finding names intellectual developmental disorder and retinitis pigmentosa; IDDRP 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
9 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
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- NyctalopiaHPOHP:0000662
- 4 of 4 reported patients
- Optic disc pallorHPOHP:0000543
- 4 of 4 reported patients
- Reduced visual acuityHPOHP:0007663
- 4 of 4 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 4 of 4 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 4 reported patients
- Abnormal flash visual evoked potentialsHPOHP:0007928
- 1 of 2 reported patients
- Posterior subcapsular cataractHPOHP:0007787
- 1 of 4 reported patients
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.
- SCAPERHGNC:13081
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2015
- Moderate · Ambry Genetics · Autosomal recessive · 2019