Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_152281.3:c.231dup | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
231070.2.1 | Saudi Arabia | Prematurely aged appearance; Macrotia; Excessive skin wrinkling on dorsum of hands and fingers; Abnormal elasticity of skin; Reduced bone mineral density; Bone fracture; Delayed closure of the anterior fontanelle | Female | Yes | Yes | Family originates from the Central province of Saudi Arabia |