Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_022464.5:c.1312C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
248800.2.1 | Egypt | Global developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract; Ataxia | Female | Yes | Yes | Proband |
248800.2.3 | Egypt | Global developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract; Male hypogonadism | Male | Yes | Yes | Maternal uncle of 248800.2.1 |
248800.2.4 | Egypt | Global developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract | Female | Yes | Yes | Maternal aunt of 248800.2.1 |
248800.2.5 | Egypt | Female | Mother of 248800.2.1 |