Female
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 |
---|---|---|---|---|---|---|
135900.3.2 | 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 |
135900.3.3 | United Arab Emirates | Intellectual disability; Global developmental delay; Delayed speech and language development; Persistent head lag; Axial hypotonia; Bicuspid aortic valve; Brachycephaly; Narrow forehead; Low anterior hairline; Thick eyebrow; Long eyelashes; Low-set ears; Broad nasal tip; Thick lower lip vermilion; Broad hallux; Hypertrichosis | Male | Yes | Yes | Brother of 135900.3.1 |