silver-russell syndrome 2
MONDO:0030116Mondo
Findings
No curated finding names silver-russell syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Contiguous gene syndrome · Uniparental isodisomy
HPO, annotations 2026-09-02
Features
16 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.
- Clinodactyly of the 5th fingerHPOHP:0004209
- 5 of 5 reported patients
- Frontal bossingHPOHP:0002007
- 4 of 4 reported patients
- Relative macrocephalyHPOHP:0004482
- 5 of 5 reported patients
- Downturned corners of mouthHPOHP:0002714
- 4 of 5 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 4 of 5 reported patients · Antenatal onset
- Short statureHPOHP:0004322
- 4 of 5 reported patients
- Triangular faceHPOHP:0000325
- 4 of 5 reported patients
- Blue scleraeHPOHP:0000592
- 3 of 4 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 2 of 3 reported patients
- Delayed closure of the anterior fontanelleHPOHP:0001476
- 3 of 5 reported patients · Infantile onset
- MicrognathiaHPOHP:0000347
- 3 of 5 reported patients
- Mild global developmental delayHPOHP:0011342
- 3 of 5 reported patients
Show the remaining 4
- HyperhidrosisHPOHP:0000975
- 2 of 4 reported patients
- Thin skinHPOHP:0000963
- 2 of 5 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 4 reported patients
- Neonatal hypoglycemiaHPOHP:0001998
- 1 of 5 reported patients · Neonatal onset
Where it sits
- A kind of
Other names
2 names
Resolves to: silver-russell syndrome 2
- Also called
- SRS2Uniparental Disomy, Maternal, Chromosome 7