Patient informs himself in diagnostic booklet

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family

Patient informs himself in diagnostic booklet

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Patient informs himself in diagnostic booklet

Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome.