Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities (NEDMISBA)

Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities, also known as microcephaly 15, primary, autosomal recessive, is related to spastic monoplegia and microcephaly 2, primary, autosomal recessive, with or without cortical malformations. An important gene associated with Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities is MFSD2A (MFSD2 Lysolipid Transporter A, Lysophospholipid), and among its related pathways/superpathways is Cell Cycle, Mitotic. Affiliated tissues include brain, and related phenotypes are hyperreflexia and hypotonia