Details of Disease | DrugMAP

General Information of Disease (ID: DISUQE1E)

Disease Name	Intellectual disability, autosomal dominant 56
Synonyms	mental retardation, autosomal dominant 56; autosomal dominant intellectual disability 56; MRD56; autosomal dominant mental retardation 56; CLTC-related ID; CLTC-related disorder; intellectual disability, autosomal dominant 56; CLTC-related intellectual disability
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DISUQE1E: Intellectual disability, autosomal dominant 56
Disease Identifiers	MONDO ID MONDO_0030922 UMLS CUI C4693389 OMIM ID 617854 MedGen ID 1638835

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
CLTC	OTBFASMA	Strong	Autosomal dominant	[1]
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References

1	High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.