Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_152281.3:c.231dup | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231070.5 | Saudi Arabia | Generalized joint laxity; Hip dysplasia; Cutis laxa; Osteopenia | Female | Yes | ||
| 231070.8 | Saudi Arabia | Global developmental delay; Multiple renal cysts; Thickened superior cerebellar peduncle | Female | Yes | Yes | |
| 231070.10 | Saudi Arabia | Global developmental delay; Abnormal facial shape; Generalized joint laxity; Cutis laxa | Male | Yes |