Progressive anemia, hepatosplenomegaly and blindness in early infancy.
D000740:Anemia / Q000209:etiology*; D001766:Blindness / Q000209:etiology*; D002675:Child, Preschool; D006529:Hepatomegaly / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010022:Osteopetrosis / Q000150:complications* / Q000175:diagnosis; D013163:Splenomegaly / Q000209:etiology*