617145.3.1

Country

Syria

HPO Terms

Gait disturbance; Ataxia; Dysarthria; Vertical supranuclear gaze palsy; Mental deterioration; Muscle weakness; Thenar muscle atrophy; Scoliosis; Dysmetria; Cognitive impairment

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

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

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Remarks

Patient from 'family 4' in the publication

References

Haack et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617145.3.2	Syria	Gait disturbance; Ataxia; Dysarthria; Vertical supranuclear gaze palsy; Mental deterioration; Cognitive impairment; Dystonia	Male	Yes	Yes	Brother of 617145.3.1; patient had mild complex IV defect.
617145.3.G	Syria					Relatives of 617145.3.1 (parents, 1 sister and 1 brother)