Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_024884.2:c.1015delA | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
236792.1.1 | Saudi Arabia | Global developmental delay; Febrile seizure (within the age range of 3 months to 6 years) | Male | Yes | Yes | Patient from family 'F5' in the publication |