Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016077.5:c.254A>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616263.1.1 | Saudi Arabia | Motor delay; Distal muscle weakness; Ataxia; Facial palsy; Sensorineural hearing impairment; Intellectual disability; Dysmetria; Achilles tendon contracture; Failure to thrive; Exotropia; Thin upper lip vermilion | Female | Yes | Yes | |
| 616263.1.2 | Saudi Arabia | Motor delay; Distal muscle weakness; Ataxia; Sensorineural hearing impairment; Intellectual disability; Dysmetria; Achilles tendon contracture; Failure to thrive; Thin upper lip vermilion; Cerebellar hypoplasia | Male | Yes | Yes | Brother of 616263.1.1 |
| 616263.1.4 | Saudi Arabia | Motor delay; Sensorineural hearing impairment; Intellectual disability; Exocrine pancreatic insufficiency; Exotropia | Male | Yes | Yes | Brother of 616263.1.3, Relative of 616263.1.1 |