silver-russell syndrome 4
MONDO:0030118Mondo
Findings
No curated finding names silver-russell syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Birth length less than 3rd percentileHPOHP:0003561
- 5 of 5 reported patients · Congenital onset
- Feeding difficulties in infancyHPOHP:0008872
- 4 of 4 reported patients · Infantile onset
- Triangular faceHPOHP:0000325
- 5 of 5 reported patients
- Prominent foreheadHPOHP:0011220
- 4 of 5 reported patients
- Small for gestational ageHPOHP:0001518
- 4 of 5 reported patients · Congenital onset
- Decreased body weightHPOHP:0004325
- 3 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.
- PLAG1HGNC:9045
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: silver-russell syndrome 4
- Also called
- SRS4