Male
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001128166.2:c.1279T>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
300558.2 | United Arab Emirates | Intellectual disability; Macrocephaly; Delayed speech and language development; Motor delay; Axial hypotonia | Male | Monozygotic twin of 300558.1 |