| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024911.7:c.1433A>G | 3 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619648.2.1 | Egypt | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Visual impairment; Iris coloboma; Hypoplasia of the corpus callosum | Female | Yes | Patient from 'family 2' in the publication | |
| 619648.2.2 | Egypt | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Visual impairment; Iris coloboma; Hypoplasia of the corpus callosum; Ectrodactyly; Cerebellar vermis hypoplasia | Female | Yes | Sister of 619648.2.1 |