Details of Disease

General Information of Disease (ID: DIST3YHO)

Disease Name Hypomagnesemia, seizures, and intellectual disability 1
Synonyms HOMGSMR1; HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1; hypomagnesemia, seizures, and mental retardation
Disease Hierarchy
DISZKQGN: Hypomagnesemia, seizures, and intellectual disability
DIST3YHO: Hypomagnesemia, seizures, and intellectual disability 1
Disease Identifiers
MONDO ID
MONDO_0020787
UMLS CUI
C4225333
OMIM ID
616418
MedGen ID
906582

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
CNNM2 OTZHO8WU Definitive Semidominant [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.