Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_058172.6:c.720del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 228600.6 | Saudi Arabia | Multiple joint contractures; Fibrous dysplasia of the bones; ; | Male | No | ||
| 228600.8 | Saudi Arabia | Bilateral talipes equinovarus; Limb joint contracture; Limitation of joint mobility | Female | Yes | ||
| 228600.9 | Saudi Arabia | 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 | Saudi Arabia | Failure to thrive; Intractable diarrhea; Limb joint contracture; Limitation of joint mobility | Female | Yes | Yes | |
| 228600.12 | Saudi Arabia | Arthrogryposis multiplex congenita | Female | Yes | Yes |