syndromic constitutional thrombocytopenia
MONDO:0018795Mondo
Findings
No curated finding names syndromic constitutional thrombocytopenia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Where it sits
- A kind of
- Narrower terms (12)
- ACTB-associated syndromic thrombocytopenia
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
- GNE myopathy
- Jacobsen syndrome
- macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- marcothrombocytopenia with mitral valve insufficiency
- platelet storage pool deficiency
- radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- Stormorken syndrome
- thrombocytopenia 6
- thrombocytopenia-absent radius syndrome