213300.G.1

Country

Oman; United Arab Emirates

HPO Terms

Ataxia; Global developmental delay; Intellectual disability; Oculomotor apraxia; Retinopathy; Molar tooth sign on MRI
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_019892.6:c.1543C>T10
NM_019892.6:c.1534C>T 10

Remarks

Five Emirati patients of Omani origin from 'MTI-007' family in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
213300.G.3Oman; United Arab EmiratesAtaxia; Global developmental delay; Intellectual disability; Oculomotor apraxia; Molar tooth sign on MRI; Elevated hepatic transaminase; Hepatic fibrosisYesYesThree Egyptian patients from 'MTI-627' family in the publication
213300.G.4Oman; United Arab EmiratesAtaxia; Global developmental delay; Intellectual disability; Retinopathy; Molar tooth sign on MRI; Oculomotor apraxia; Optic disc pallor; PlagiocephalyYesYesFour Emirati patients from 'MTI-008' family in the publication
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