Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_138422.4:c.430G>A | 28 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615286.G.2 | Saudi Arabia | Intellectual disability; Esotropia; Failure to thrive | Yes | Yes | 24 patients (12 males; 12 females) from 8 families. |