Professionals

Bi-allelic truncating mutations in PCDH12have been reported in patients presenting either with global developmental delay, microcephaly, dystonia, and a characteristic midbrain malformation at the diencephalic–mesencephalic junction (Diencephalic–Mesencephalic Junction Dysplasia Syndrome 1 (DMJDS1), MIM: 251280); or cerebral palsy combined with a neurodevelopmental disorder; or cerebellar ataxia with retinopathy.