You are using an outdated browser. Please upgrade your browser to improve your experience.

diencephalic-mesencephalic junction dysplasia

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.
Mondo Term and Equivalent IDs
MONDO:0017868:  diencephalic-mesencephalic junction dysplasia
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found