Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003632.3:c.1561dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616286.2.1 | Qatar | Polyhydramnios; Fetal distress; Bradycardia; Bilateral microphthalmos; Weakness of facial musculature; Abnormality of jaw muscles | Female | Yes | Yes | Has 2 similarly affected siblings, and 6 first degree cousins who dies within a few months of birth with “muscle problems" |
| 616286.2.3 | Qatar | Joint contracture; Polyhydramnios; Muscular dystrophy; Neonatal death | Female | Yes | Yes | Sibling of 616286.2.1 |