234200.2.1

Egypt

Bradykinesia; Rigidity; Kinetic tremor; Dystonia; Depression; Eye of the tiger anomaly of globus pallidus

Female

Yes

Yes

Variant Name	Allele Count	Associated Disease
NM_001386393.1:c.1253C>T	2	Neurodegeneration with Brain Iron Accumulation 1

Patient's brother with a history of forced eyelid closure and jaw-opening dystonia died at age 23

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
234200.2.2	Egypt	Dystonia; Dysarthria; Agitation; Atypical behavior	Female	Yes	Yes	Sister of 234200.2.1
234200.2.3	Egypt	Dystonia; Dysarthria; Agitation; Atypical behavior; Eye of the tiger anomaly of globus pallidus	Male	Yes	Yes	Brother of 234200.2.1
234200.2.4	Egypt	Psychosis	Male			Father of 234200.2.1.