Genetics

Familial paroxysmal nonkinesigenic dyskinesia

Neurofibromatosis type 1

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

SMN2 gene

CLRN1 gene

Timothy syndrome

Achromatopsia

Bradyopsia

KDM6A gene

2-hydroxyglutaric aciduria

TBXT gene

DVL1 gene