X-linked intellectual disability-retinitis pigmentosa syndrome
Findings
No curated finding names X-linked intellectual disability-retinitis pigmentosa syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.
Definition from the Mondo Disease Ontology (MONDO:0010364), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
24 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.
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Rod-cone dystrophyHPOHP:0000510
- 5 of 5 reported patients · Infantile onset
- Visual impairmentHPOHP:0000505
- 5 of 5 reported patients · Male
- Iris hypopigmentationHPOHP:0007730
- Very frequent (80% to 99% of cases)
Where it sits
Other names
5 names
Resolves to: X-linked intellectual disability-retinitis pigmentosa syndrome
- Also called
- Aldred syndromechromosome xp11.3 deletion syndrome, X-linked recessiveretinitis pigmentosa and intellectual disability due to del(X)(p11.3)retinitis pigmentosa and intellectual disability due to monosomy Xp11.3retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion