Details of Disease

General Information of Disease (ID: DISO0SJ7)

Disease Name Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
Disease Hierarchy
DISYKSRF: Genetic disease
DISO0SJ7: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
Disease Identifiers
MONDO ID
MONDO_0859277
UMLS CUI
C5774199
OMIM ID
620007
MedGen ID
1823972

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
LGI3 OT0CZ85H Limited Unknown [1]
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References

1 Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan. Tohoku J Exp Med. 2017 Dec;243(4):297-309. doi: 10.1620/tjem.243.297.