Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001365716.1:c.761A>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
84859.1.2 | Syria | Intellectual disability, severe; Seizure; Hypotonia; Abnormal heart morphology; Cerebral atrophy | Female | Yes | Yes | Relative of 84859.1.1 |
84859.1.3 | Syria | Intellectual disability, severe; Seizure; Hypotonia; Abnormal heart morphology; Cerebral atrophy | Female | Yes | Yes | Relative of 84859.1.1 |