Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_032504.1:c.601-1G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616801.7.1 | Egypt | Global developmental delay; Failure to thrive; Intellectual disability; Axial hypotonia; Hypoplasia of the corpus callosum | Female | Yes | Yes | Similarly affected male sibling deceased |