Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001206999.1:c.1111+1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617090.2 | Egypt | Lissencephaly; Abnormality of neuronal migration; Sloping forehead; Proptosis; Prominent nasal tip; Macrotia; Thick vermilion border | Female | No | Yes | |
| 617090.5 | Egypt | Microcephaly; Microlissencephaly; Agenesis of corpus callosum; Cerebellar hypoplasia; Hypoplasia of the brainstem; Hyperintensity of cerebral white matter on MRI; Limb hypertonia; Axial hypotonia; Hyperreflexia; Spastic tetraplegia; Global developmental delay; Abnormal facial shape | Male | Yes | Yes | 'Proband A' in the publication. This patient had a similarly affected brother. |
| 617090.6 | Egypt | Microcephaly; Microlissencephaly; Agenesis of corpus callosum; Cerebellar hypoplasia; Hypoplasia of the brainstem; Abnormal cerebral ventricle morphology; Abnormal facial shape; Neonatal death | Male | Yes | Yes | 'Proband B' in the publication. This patient had a similarly affected sister. |