Luo-Schoch-Yamamoto syndrome
MONDO:0859171Mondo
Findings
No curated finding names Luo-Schoch-Yamamoto syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
33 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.
- ExotropiaHPOHP:0000577
- 2 of 2 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients · Fetal onset
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Severe global developmental delayHPOHP:0011344
- 2 of 2 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 2 of 2 reported patients
- StrabismusHPOHP:0000486
- 2 of 2 reported patients
- Abnormal pinna morphologyHPOHP:0000377
- 1 of 2 reported patients
- Almond-shaped palpebral fissureHPOHP:0007874
- 1 of 2 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 2 reported patients
Show the remaining 21
- AstigmatismHPOHP:0000483
- 1 of 2 reported patients
- Deeply set eyeHPOHP:0000490
- 1 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 2 reported patients
- Ectropion of lower eyelidsHPOHP:0007651
- 1 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 2 reported patients
- Highly arched eyebrowHPOHP:0002553
- 1 of 2 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.
- RNF2HGNC:10061
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of