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GTR Home > Conditions/Phenotypes > Diencephalic-mesencephalic junction dysplasia syndrome 2

Diencephalic-mesencephalic junction dysplasia syndrome 2

Synonyms
SPASTIC TETRAPARESIS, DYSTONIA, DEVELOPMENTAL DELAY, AND STRUCTURAL ABNORMALITIES OF THE BASAL GANGLIA

Summary

Diencephalic-mesencephalic junction dysplasia syndrome-2 (DMJDS2) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay and hypotonia apparent from infancy. Affected individuals develop severe progressive hyperkinetic movements, including spastic tetraplegia, dystonia, and bulbar dysphagia necessitating tube feeding. Patients are unable to walk and have severely impaired intellectual development with absent speech. Brain imaging shows a unique malformation reflecting abnormal embryonic development of the diencephalic-mesencephalic junction (DMJ), with agenesis of the basal ganglia and olfactory bulb, hypoplasia of the thalamus, and abnormal course of the corticospinal tracts (summary by De Mori et al., 2019). For a discussion of genetic heterogeneity of DMJDS, see DMJDS1 (251280). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DMJDS2, GSH2, GSX2
    Summary: GS homeobox 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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