Silver-Russell syndrome 5
MONDO:0020795Mondo
Findings
No curated finding names Silver-Russell syndrome 5 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
8 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
- 2 of 2 reported patients · Congenital onset
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 2 reported patients · Infantile onset
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients · Antenatal onset
- Prominent foreheadHPOHP:0011220
- 3 of 3 reported patients
- Relative macrocephalyHPOHP:0004482
- 2 of 2 reported patients · Congenital onset
- Small for gestational ageHPOHP:0001518
- 2 of 2 reported patients · Congenital onset
- 1 of 1 reported patient
- Triangular faceHPOHP:0000325
- 3 of 3 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.
- HMGA2HGNC:5009
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2026
Where it sits
- A kind of
Other names
1 name
Resolves to: Silver-Russell syndrome 5
- Also called
- SRS5