Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001287.6:c.739-18G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611490.1.2 | Saudi Arabia | Blindness; Recurrent fractures; Osteopetrosis; Dolichocephaly | Male | Yes | Yes | Relative of 611490.1.1 |