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Table 1 Clinical features of individuals with osteopetrosis

From: Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants

  OP1-2 OP2-4 OP2-5 OP3-3 OP4-3 OP4-4 OP5-2 OP6-3 OP6-5 OP7-3 OP8-3 OP9-3 OP10-3
Gender M M M F M M F M F F M CVS M
Age at diagnosis (months) 09 01 01 01 03 01 At birth 2.5 01 03 1.5 - 07
Parents are related Yes Yes Yes Yes Yes Yes Yes No No Yes Yes Yes Yes
Another affected sibling No Yes Yes Yes Yes Yes Yes Yes Yes No No Yes No
Delayed developmental milestones Yes No Yes Yes Yes Yes Yes No No No Yes No
Macrocephaly No No No Yes Yes Yes Yes No No No Yes  
Hepatosplenomegaly Yes Yes Yes No Yes Yes Yes Yes Yes Yes Yes Yes
Impairments visual, hearing, speech Hearing Visual Visual Visual Visual No Visual and hearing No No No No Visual and hearing
Anemia Yes Yes Yes Mild Yes Yes Yes Yes Mild Yes No Severe
Thrombocytopenia Yes Yes Yes Yes Yes Yes Yes No No Yes Yes Yes
Required transfusions Yes Yes No No No Yes No Yes No Yes No Yes
  1. M male, F female, CVS chorionic villus sample, – not available