Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004260.3:c.3056-2A>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 218600.1.1 | Lebanon | Intrauterine growth retardation; Absent thumb; Poikiloderma; Short stature; Abnormal facial shape; Motor delay; Failure to thrive; Poor appetite; Limb undergrowth; Hypoplasia of the radius; Hypoplasia of the ulna; Generalized bone demineralization | Male | No | Yes | Parents are first-cousins |
| 218600.1.3 | Lebanon | Female | No | Mother of patient 218600.1.1 |