Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_032856.3:c.68T>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 251300.2.1 | Somalia | Intellectual disability; Hypotonia; Ataxia; Spasticity; Dystonia; Delayed gross motor development; Feeding difficulties; Delayed speech and language development; Cerebellar atrophy; Brain atrophy; Abnormal myelination; Proteinuria; Ptosis; Myopia; Strabismus; Oculomotor apraxia; Weakness of facial musculature; Joint laxity | Female | Yes | ||
| 251300.2.3 | Somalia | Female | Mother of 251300.2.1 |