Male
No
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001197104.1:c.5239C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
605130.1 | United Arab Emirates | Intellectual disability; Attention deficit hyperactivity disorder; Abnormal facial shape | Female | Yes | No | Affected father and siblings |