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 |
---|---|---|---|---|---|---|
611490.1.1 | Saudi Arabia | Blindness; Recurrent fractures; Osteopetrosis; Dolichocephaly | Male | Yes | Yes |