Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_032856.3:c.703C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 251300.4.1 | Egypt | Intellectual disability, severe; Seizure; Hypotonia; Spasticity; Delayed gross motor development; Cerebellar atrophy; Brain atrophy; Abnormal myelination; hypoplasia of the corpus callosum; Dandy-Walker malformation; Aplasia/hypoplasia of the brainstem; Optic atrophy; Proteinuria; Abnormal facial shape; Hypopigmentation of the skin | Female | Yes | ||
| 251300.4.2 | Egypt | Intellectual disability; Seizure; Hypotonia; Spasticity; Cerebellar atrophy; Brain atrophy; Abnormal myelination; hypoplasia of the corpus callosum; Dandy-Walker malformation; Aplasia/hypoplasia of the brainstem; Optic atrophy; Abnormal facial shape; Hypopigmentation of the skin | Female | Yes | Sibling of 251300.4.1 | |
| 251300.4.3 | Egypt | Male | Father of 251300.4.1 |