Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000048.4:c.1060C>T | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
207900.7.1 | Saudi Arabia | Attention deficit hyperactivity disorder; Delayed speech and language development; Hepatomegaly | Male | Yes | Yes | 'Patient 1' in the publication |