Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000302.4:c.955C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 225400.5.1 | Qatar | Generalized hypotonia; Kyphoscoliosis; Blue sclerae; Microcornea; Delayed gross motor development | Female | Yes | Yes | |
| 225400.5.2 | Qatar | Generalized hypotonia; Kyphoscoliosis; Blue sclerae; Microcornea; Delayed gross motor development | Female | Yes | Yes | Sibling of 225400.5.1 |
| 225400.5.3 | Qatar | Female | Mother of 225400.5.1 |