Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004713.6:c.2517_2520del | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
619099.3.1 | Egypt | Intellectual disability; Global developmental delay; Delayed speech and language development; Autistic behavior; EEG abnormality | Female | Yes | Yes |