thrombocytopenia 13, syndromic
MONDO:0958333Mondo
Findings
No curated finding names thrombocytopenia 13, syndromic 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
- Neonatal onset · Childhood 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.
- Abnormal bleedingHPOHP:0001892
- 3 of 3 reported patients
- Giant plateletsHPOHP:0001902
- 7 of 7 reported patients
- Gingival bleedingHPOHP:0000225
- 1 of 1 reported patient
- HypergalactosemiaHPOHP:0012024
- 1 of 1 reported patient
- MacrothrombocytopeniaHPOHP:0040185
- 5 of 5 reported patients
- Megakaryocyte dysplasiaHPOHP:0031689
- 10 of 10 reported patients
- Megakaryocyte nucleus hypolobulationHPOHP:0031385
- 2 of 2 reported patients
- ThrombocytopeniaHPOHP:0001873
- 5 of 5 reported patients
- EpistaxisHPOHP:0000421
- 3 of 4 reported patients
- AnemiaHPOHP:0001903
- 7 of 10 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 6 of 9 reported patients
- Cerebral hemorrhageHPOHP:0001342
- 3 of 5 reported patients
Show the remaining 13
- CataractHPOHP:0000518
- 2 of 4 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 4 reported patients
- ReticulocytosisHPOHP:0001923
- 1 of 2 reported patients
- Mitral valve prolapseHPOHP:0001634
- 4 of 9 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.
- GALEHGNC:4116
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of