Details of Disease

General Information of Disease (ID: DISZUDAP)

Disease Name Leukodystrophy and acquired microcephaly with or without dystonia;
Synonyms LDAMD; leukodystrophy and acquired microcephaly with or without dystonia
Disease Hierarchy
DISYKSRF: Genetic disease
DISZUDAP: Leukodystrophy and acquired microcephaly with or without dystonia;
Disease Identifiers
MONDO ID
MONDO_0014766
UMLS CUI
C4225213
OMIM ID
616763
MedGen ID
908888

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
PLEKHG2 OTMGR6I6 Strong Autosomal recessive [1]
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References

1 The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.