Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_032856.3:c.129T>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 251300.3.1 | Morocco | Death in childhood; Microcephaly; Intellectual disability; Seizure; Hypotonia; Cerebellar atrophy; Proteinuria; Focal segmental glomerulosclerosis; Abnormal facial shape; hypoplasia of the corpus callosum | Male | Yes | ||
| 251300.3.2 | Morocco | Microcephaly; Intellectual disability; Seizure; Hypotonia; Cerebellar atrophy; Brain atrophy; Optic atrophy; Abnormal facial shape | Male | Yes | Sibling of 251300.3.1 | |
| 251300.3.3 | Morocco | Male | Father of 251300.3.1 |