| Contributed by: Dr Prajnya Ranganath Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad |
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| Email: prajnyaranganath@gmail.com | ||
| This 10 months-old male child was referred for evaluation of anemia with thrombocytopenia, hepatosplenomegaly, visual impairment with optic atrophy, and hearing loss. There was history of pathological fracture of the left femur at 6 months of age. Identify the condition. | ||
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