Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001127671.2:c.1601-1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601559.1.1 | Palestine | Bowing of the long bones; Flared lower limb metaphysis; Feeding difficulties; respiratory distress | Unknown | Yes | Yes |