Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004933.3:c.2324G>A | 1 | |||
| NM_017519.3:c.4567C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 135900.3.1 | United Arab Emirates | Intellectual disability; Global developmental delay; Delayed speech and language development; Persistent head lag; Axial hypotonia; Agenesis of corpus callosum; Brachycephaly; Narrow forehead; Low anterior hairline; Thick eyebrow; Long eyelashes; Low-set ears; Broad nasal tip; Thick lower lip vermilion; Broad hallux; Hypertrichosis; Autistic behavior; Aggressive behavior | Female | Yes | Yes | Baluchi origin Emirati national |
| 135900.3.2 | United Arab Emirates | Intellectual disability; Global developmental delay; Delayed speech and language development; Persistent head lag; Axial hypotonia; Dysplastic corpus callosum; Brachycephaly; Narrow forehead; Low anterior hairline; Thick eyebrow; Long eyelashes; Low-set ears; Broad nasal tip; Thick lower lip vermilion; Broad hallux; Hypertrichosis; Ventricular septal defect | Male | Yes | Yes | Brother of 135900.3.1 |