Male
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 | ||
231070.7 | Saudi Arabia | Congenital bilateral hip dislocation; Hyperextensibility at wrists; Failure to thrive | Female | Yes | Yes | |
231070.8 | Saudi Arabia | Global developmental delay; Multiple renal cysts; Thickened superior cerebellar peduncle | Female | Yes | Yes |