Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004813.4:c.859C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614876.1.1 | United Arab Emirates | Spastic diplegia; Tip-toe gait; Syringomyelia; Horizontal nystagmus; Head tremor; Hand tremor; Dysmetria; Lower limb hypertonia; Brisk reflexes; Babinski sign; Ankle clonus; Abnormality of coordination; Flexion contracture; Hip dislocation; Dysarthria; Dysphagia; Scoliosis | Male | Yes | Yes | Proband (Patient 'III-6' in the publication) |
| 614876.1.2 | United Arab Emirates | Aplasia of the phalanges of the toes; Deviation of the thumb; Motor regression | Female | Yes | Yes | Sister of 614876.1.1 (Patient 'III-9' in the publication) |