Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001204077.2:c.384G>A | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
619639.1.2 | Saudi Arabia | Intellectual disability, severe; Poor speech; Attention deficit hyperactivity disorder; Hypotonia; Seizure | Female | Yes | Yes | Sister of 619639.1.1 |
619639.1.3 | Saudi Arabia | Male | Father of 619639.1.1 | |||
619639.1.4 | Saudi Arabia | Female | Mother of 619639.1.1 |