Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000528.4:c.215A>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 248500.1.2 | Palestine | Intellectual disability, mild; Delayed speech and language development; Coarse facial features; Limitation of joint mobility | Male | Yes | Yes | Brother of 248500.1.1 |
| 248500.1.3 | Palestine | Male | Yes | Father of 248500.1.1 |