Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_173791.5:c.2197_2200del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614235.1.5 | Oman | Autistic behavior; Myopathy; Decreased facial expression | Male | Yes | Father of 614235.1.1 | |
| 614235.1.6 | Oman | Myopathy; Decreased facial expression | Female | Yes | Mother of 614235.1.1 |