Details of Disease

General Information of Disease (ID: DISS7KVL)

Disease Name Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
Synonyms
language delay and ADHD/cognitive impairment with or without cardiac arrhythmia; LADCI; language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI; language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia
Disease Hierarchy
DISYKSRF: Genetic disease
DISS7KVL: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
Disease Identifiers
MONDO ID
MONDO_0014957
UMLS CUI
C4310678
OMIM ID
617182
MedGen ID
934645

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
GNB5 OT3ZSAXH Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.