Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy (MSCCA)

Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy, also known as diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, is related to hypomyelinating leukodystrophy. An important gene associated with Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy is QARS1 (Glutaminyl-TRNA Synthetase 1), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and tRNA Aminoacylation. Affiliated tissues include cortex and eye, and related phenotypes are hyperreflexia and microcephaly