Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NC_000015.10:g.22765628_28691460del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 176270.2 | United Arab Emirates | Generalized hypotonia; Feeding difficulties in infancy; Global developmental delay; Failure to thrive; Talipes equinovarus; Small hand; Abnormal facial shape | Female | No | Yes |