Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_019892.6:c.1543C>T | 10 | |||
NM_019892.6:c.1534C>T | 10 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
213300.G.3 | Oman; United Arab Emirates | Ataxia; Global developmental delay; Intellectual disability; Oculomotor apraxia; Molar tooth sign on MRI; Elevated hepatic transaminase; Hepatic fibrosis | Yes | Yes | Three Egyptian patients from 'MTI-627' family in the publication | |
213300.G.4 | Oman; United Arab Emirates | Ataxia; Global developmental delay; Intellectual disability; Retinopathy; Molar tooth sign on MRI; Oculomotor apraxia; Optic disc pallor; Plagiocephaly | Yes | Yes | Four Emirati patients from 'MTI-008' family in the publication |