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progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia (DOID:0070716)
Alliance: disease page
Synonyms: MGCH
Alt IDs: OMIM:621436
Definition: A congenital nervous system abnormality characterized by severe to profound global developmental delay with inability to sit or walk independently, almost no cognitive development, poor visual fixation, and absent speech; progressive, severe microcephaly; and notable structural brain abnormalities apparent on brain imaging, including simplified gyral pattern, lissencephaly, partial or complete agenesis of the corpus callosum, enlarged ventricles, and cerebellar hypoplasia, that has_material_basis_in heterozygous mutation in the CRNKL1 gene on chromosome 20p11.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
05/26/2026
MGI 6.24 		The Jackson Laboratory