Li-Campeau syndrome
MONDO:0030963Mondo
Findings
No curated finding names Li-Campeau syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
25 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
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- HypotoniaHPOHP:0001252
- 6 of 7 reported patients
- SeizureHPOHP:0001250
- 6 of 7 reported patients
- CryptorchidismHPOHP:0000028
- 5 of 6 reported patients · Male
- PtosisHPOHP:0000508
- 5 of 7 reported patients
- Short statureHPOHP:0004322
- 5 of 7 reported patients
- HypertelorismHPOHP:0000316
- 4 of 7 reported patients
- HypothyroidismHPOHP:0000821
- 4 of 7 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 7 reported patients
- Low-set earsHPOHP:0000369
- 3 of 7 reported patients
- Prominent foreheadHPOHP:0011220
- 3 of 7 reported patients
Show the remaining 13
- Long philtrumHPOHP:0000343
- 2 of 7 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 2 of 7 reported patients · Neonatal onset
- Ventricular septal defectHPOHP:0001629
- 2 of 7 reported patients · Congenital onset
- MicropenisHPOHP:0000054
- 1 of 6 reported patients · Male
- Atrial septal defectHPOHP:0001631
- 1 of 7 reported patients
- Gastrointestinal dysmotilityHPOHP:0002579
- 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.
- UBR7HGNC:20344
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Li-Campeau syndrome
- Also called
- LICAS