Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 (DMJDS1)

Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1, also known as microcephaly, seizures, spasticity, and brain calcifications, is related to microcephaly with spastic quadriplegia and diencephalic-mesencephalic junction dysplasia syndrome 2. An important gene associated with Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 is PCDH12 (Protocadherin 12). Affiliated tissues include brain and hypothalamus, and related phenotypes are seizure and global developmental delay