Usmani-Riazuddin syndrome, autosomal dominant
MONDO:0859174Mondo
Findings
No curated finding names Usmani-Riazuddin syndrome, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
29 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.
- Delayed speech and language developmentHPOHP:0000750
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- HypotoniaHPOHP:0001252
- 6 of 7 reported patients
- Aggressive behaviorHPOHP:0000718
- 4 of 8 reported patients
- SeizureHPOHP:0001250
- 3 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 8 reported patients
- HyperactivityHPOHP:0000752
- 3 of 8 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 6 reported patients
- AnisometropiaHPOHP:0012803
- 1 of 6 reported patients
- EsotropiaHPOHP:0000565
- 1 of 6 reported patients
- Lumbar hyperlordosisHPOHP:0002938
- 1 of 6 reported patients
Show the remaining 17
- StrabismusHPOHP:0000486
- 1 of 6 reported patients
- Thoracic kyphosisHPOHP:0002942
- 1 of 6 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 7 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 7 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 7 reported patients
- Hooded eyelidHPOHP:0030820
- 1 of 7 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.
- AP1G1HGNC:555
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
Where it sits
- A kind of