Syndromic constitutional thrombocytopenia

Part of

Sub-types of Syndromic constitutional thrombocytopenia

• GNE myopathy 3 trials
• Platelet storage pool deficiency 3 trials
• Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 trial
• Thrombocytopenia-absent radius syndrome 1 trial
• ACTB-associated syndromic thrombocytopenia 0 trials
• DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome 0 trials
• Jacobsen syndrome 0 trials
• Stormorken syndrome 0 trials
• Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 trials
• Marcothrombocytopenia with mitral valve insufficiency 0 trials
• Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 0 trials
  2 sub-types

  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 0 trials
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 trials
• Thrombocytopenia 6 0 trials