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 |