Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001206999.2:c.753+3A>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617090.1 | Saudi Arabia | Sloping forehead; Micrognathia; Open mouth; Hand clenching; Arthrogryposis multiplex congenita ; Generalized ichthyosis; Short neck; Renal agenesis | Female | Yes | Yes | |
| 617090.5 | Saudi Arabia | 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 | Saudi Arabia | 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. |