hereditary disease diencephalic-mesencephalic junction dysplasia https://github.com/monarch-initiative/mondo/issues/6197 https://www.malacards.org/card/diencephalic_mesencephalic_junction_dysplasia MEDGEN:1641855 OMIMPS:251280 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). Additionally, 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. UMLS:C4707858 GARD:0021407 MONDO:0017868 diencephalic-mesencephalic junction dysplasia syndrome Orphanet:319192 disorder of development or morphogenesis