248800.2.1 | Egypt | Global developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract; Ataxia | Female | Yes | Yes | Proband |
248800.2.2 | Egypt | Global developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract; Ataxia | Female | Yes | Yes | Sister of 248800.2.1 |
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 |