Usmani-Riazuddin syndrome, autosomal recessive
MONDO:0859196Mondo
Findings
No curated finding names Usmani-Riazuddin syndrome, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
18 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
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- SpasticityHPOHP:0001257
- 3 of 3 reported patients
- Aggressive behaviorHPOHP:0000718
- 2 of 3 reported patients
- Joint hypermobilityHPOHP:0001382
- 2 of 3 reported patients
- SeizureHPOHP:0001250
- 2 of 3 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 3 reported patients
- Conjunctival hyperemiaHPOHP:0030953
- 1 of 3 reported patients
- EpicanthusHPOHP:0000286
- 1 of 3 reported patients
- High palateHPOHP:0000218
- 1 of 3 reported patients
Show the remaining 6
- HypertelorismHPOHP:0000316
- 1 of 3 reported patients
- Low-set earsHPOHP:0000369
- 1 of 3 reported patients
- Lumbar scoliosisHPOHP:0004626
- 1 of 3 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 3 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 1 of 3 reported patients
- Prominent supraorbital ridgesHPOHP:0000336
- 1 of 3 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 recessive · 2021
- Limited · G2P · Autosomal recessive · 2025
Where it sits
- A kind of