610190.G.1

United Arab Emirates

Ataxia; Molar tooth sign on MRI; Global developmental delay; Hypotonia

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_025114.4:c.5668G>T	3	NA	Joubert Syndrome 5
NM_025114.4:c.5932C>T	3	NA	Joubert Syndrome 5

Three patients from 'MTI_1001' family in the publication