Details of Disease | DrugMAP

General Information of Disease (ID: DIS1DL6Y)

Disease Name	Diencephalic-mesencephalic junction dysplasia syndrome 2
Synonyms	spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia; DMJDS2
Disease Hierarchy	DIS91LZ2: Diencephalic-mesencephalic junction dysplasia DIS1DL6Y: Diencephalic-mesencephalic junction dysplasia syndrome 2
Disease Identifiers	MONDO ID MONDO_0020762 UMLS CUI C5231440 OMIM ID 618646 MedGen ID 1684846

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GSX2	OTLA7BAI	Limited	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.