MAST1

microtubule associated serine/threonine kinase 1
OMIM: 612256
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures, Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273