Alazami-Yuan syndrome
MONDO:0014931Mondo
Findings
No curated finding names Alazami-Yuan syndrome 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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HirsutismHPOHP:0001007
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Prominent noseHPOHP:0000448
- 4 of 4 reported patients
- SynophrysHPOHP:0000664
- 4 of 4 reported patients
- Broad halluxHPOHP:0010055
- 3 of 4 reported patients
- Low anterior hairlineHPOHP:0000294
- 3 of 4 reported patients
- Low hanging columellaHPOHP:0009765
- 3 of 4 reported patients
- Thick eyebrowHPOHP:0000574
- 3 of 4 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 4 reported patients
- Highly arched eyebrowHPOHP:0002553
- 1 of 4 reported patients
- Long eyelashesHPOHP:0000527
- 1 of 4 reported patients
Show the remaining 6
- Long philtrumHPOHP:0000343
- 1 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 4 reported patients
- Narrow mouthHPOHP:0000160
- 1 of 4 reported patients
- Short statureHPOHP:0004322
- 1 of 4 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 1 of 4 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 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.
- TAF6HGNC:11540
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: Alazami-Yuan syndrome
- Also called
- Alazami-Yuan syndrome; ALYUSALYUS