Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_145064.3:c.851G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 255995.2.1 | Qatar | Delayed gross motor development; Kyphoscoliosis; Hypotonia; Ptosis; Myopathic facies | Female | Yes | Yes |