Lui-Jee-Baron syndrome
MONDO:0957919Mondo
Findings
No curated finding names Lui-Jee-Baron syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
13 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.
- Deep philtrumHPOHP:0002002
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Large for gestational ageHPOHP:0001520
- 1 of 1 reported patient
- MacrocephalyHPOHP:0000256
- 1 of 1 reported patient
- Normal pressure hydrocephalusHPOHP:0002343
- 1 of 1 reported patient
- OvergrowthHPOHP:0001548
- 1 of 1 reported patient
- Pes planusHPOHP:0001763
- 1 of 1 reported patient
- Protruding earHPOHP:0000411
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
- Wide intermamillary distanceHPOHP:0006610
- 1 of 1 reported patient
Show the remaining 1
- Intellectual disabilityHPOHP:0001249
- 0 of 1 reported patient
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.
- SPIN4HGNC:27040
- Moderate · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of