Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017653.5:c.194-1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 223800.5.1 | Lebanon | Disproportionate short-trunk short stature; Microcephaly; Global developmental delay ; Hyperactivity ; Thoracolumbar kyphosis ; Iliac crest serration ; Death in adolescence | Male | Yes | Yes |