Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_032040.4:c.803_807delinsT | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614205.1.2 | Saudi Arabia | Intrauterine growth retardation; Proportionate short stature; Abnormal facial shape; Heart murmur; Mitral regurgitation | Female | Yes | Yes | Sibling of 614205.1.1 |
614205.1.3 | Saudi Arabia | Proportionate short stature; Abnormal facial shape; Abnormal form of the vertebral bodies | Male | Yes | Yes | Sibling of 614205.1.1 |