Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006031.6:c.1519C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 210720.6 | Egypt | Global developmental delay; Hypothyroidism; Hypogonadism | Male | No | Yes | |
| 210720.8 | Egypt | Broad forehead; Thin upper lip vermilion; Retrognathia; Low posterior hairline | Male | Yes | Yes | |
| 210720.10 | Egypt | Unilateral ptosis; Long nose; Microtia; Delayed ossification of carpal bones; Epicanthus | Male | No | Yes | |
| 210720.11 | Egypt | Convex nasal ridge; Clinodactyly; Deeply set eye | Female | No | Yes | |
| 210720.12 | Egypt | Developmental regression; Failure to thrive; Short stature; Microcephaly; Delayed speech and language development | Male | Yes | Yes | |
| 210720.13 | Egypt | Moderate to late preterm birth; Intrauterine growth retardation; Delayed speech and language development; Delayed gross motor development; High pitched voice; Short stature; Truncal obesity; Diabetes mellitus | Male |