Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_181882.3:c.3099del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614895.3.1 | Egypt | Intellectual disability; Global developmental delay; Hyperactivity; Hypotonia; Seizure; Hypoplasia of the corpus callosum | Male | Yes | Yes |