617145.3.2

Syria

Gait disturbance; Ataxia; Dysarthria; Vertical supranuclear gaze palsy; Mental deterioration; Cognitive impairment; Dystonia

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003900.5:c.286C>T	2	NA	Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset

Brother of 617145.3.1; patient had mild complex IV defect.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617145.3.1	Syria	Gait disturbance; Ataxia; Dysarthria; Vertical supranuclear gaze palsy; Mental deterioration; Muscle weakness; Thenar muscle atrophy; Scoliosis; Dysmetria; Cognitive impairment	Female	Yes	Yes	Patient from 'family 4' in the publication
617145.3.G	Syria					Relatives of 617145.3.1 (parents, 1 sister and 1 brother)