choroideremia-deafness-obesity syndrome
Findings
No curated finding names choroideremia-deafness-obesity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.
Definition from the Mondo Disease Ontology (MONDO:0010558), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance · Contiguous gene syndrome
HPO, annotations 2026-09-02
Features
40 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.
- Chorioretinal scalloped atrophyHPOHP:0001139
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- 7 of 7 reported patients
- Incomplete partition of the cochleaHPOHP:0011373
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Abnormal chorioretinal morphologyHPOHP:0000532
- Very frequent (80% to 99% of cases)
- Chorioretinal atrophyHPOHP:0000533
- Very frequent (80% to 99% of cases)
Show the remaining 28
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- Dilatated internal auditory canalHPOHP:0004458
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.
- POU3F4HGNC:9217
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: choroideremia-deafness-obesity syndrome
- Also called
- Ayazi syndromeXq21 deletion syndrome, X-linked recessive