Unknown
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_019892.6:c.1543C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
213300.2 | Oman; United Arab Emirates | Ataxia; Global developmental delay; Intellectual disability; Oculomotor apraxia; Dyspnea; Molar tooth sign on MRI | Female | No | Yes | Emirati patient of Omani origin from 'MTI-134' family in the publication |