Male
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002860.4:c.412C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616603.2 | Jordan | Intrauterine growth retardation; Postnatal growth retardation; Abnormal facial shape; Cutis laxa; Joint hypermobility; Thin skin; Hernia; Hip dislocation; Adducted thumb; Talipes equinovarus; Abnormality of the curvature of the vertebral column; Microcephaly; Psychomotor retardation; Cataract | Male | No | No |