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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease thrombocytopenia
Comorbidity C0018784|sensorineural hearing loss
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PubMedID- 23123319 Consistent with these studies, the patients from family 1 presented with moderate to severe thrombocytopenia associated with sensorineural hearing loss and/or bilateral cataracts in both the adult members.

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