Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_058172.5:c.134T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 228600.8 | United Arab Emirates | Bilateral talipes equinovarus; Limb joint contracture; Limitation of joint mobility | Female | Yes | ||
| 228600.9 | United Arab Emirates | Long philtrum; Rectal prolapse; Low-set ears; Depressed nasal bridge; Thin vermilion border; Micrognathia; Oral cleft; Abnormal acetabulum morphology; Osteopenia | Female | Yes | Yes | |
| 228600.10 | United Arab Emirates | Failure to thrive; Intractable diarrhea; Limb joint contracture; Limitation of joint mobility | Female | Yes | Yes | |
| 228600.11 | United Arab Emirates | Arthrogryposis multiplex congenita; Hip dysplasia; Global developmental delay; Hypoalbuminemia; Low levels of vitamin D; Allodynia; Mask-like facies; Unilateral cryptorchidism; Hyperhidrosis | Male | Yes | ||
| 228600.12 | United Arab Emirates | Arthrogryposis multiplex congenita | Female | Yes | Yes |