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GTR Home > Conditions/Phenotypes > Diencephalic-mesencephalic junction dysplasia syndrome 1

Diencephalic-mesencephalic junction dysplasia syndrome 1

Synonyms
Microcephaly with spastic quadriplegia; Recessive microcephaly with spastic quadriplegia

Summary

Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present (summary by Aran et al., 2016 and Guemez-Gamboa et al., 2018). Genetic Heterogeneity of Diencephalic-Mesencephalic Junction Dysplasia Syndrome See also DMJDS2 (618646), caused by mutation in the GSX2 gene (616253) on chromosome 4q12. [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DMJDS1, VE-cadherin-2, VECAD2, PCDH12
    Summary: protocadherin 12

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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