Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006031.6:c.5767C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 210720.6 | Saudi Arabia | Global developmental delay; Hypothyroidism; Hypogonadism | Male | No | Yes | |
| 210720.7 | Saudi Arabia | Sloping forehead; Retrognathia; Sparse scalp hair; Fair hair; Depressed nasal bridge | Female | No | No | |
| 210720.10 | Saudi Arabia | Unilateral ptosis; Long nose; Microtia; Delayed ossification of carpal bones; Epicanthus | Male | No | Yes | |
| 210720.11 | Saudi Arabia | Convex nasal ridge; Clinodactyly; Deeply set eye | Female | No | Yes | |
| 210720.12 | Saudi Arabia | Developmental regression; Failure to thrive; Short stature; Microcephaly; Delayed speech and language development | Male | Yes | Yes | |
| 210720.13 | Saudi Arabia | 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 |