Details of Disease | DrugMAP

General Information of Disease (ID: DISI5M6G)

Disease Name	Developmental delay, hypotonia, and impaired language
Disease Hierarchy	DISYKSRF: Genetic disease DISI5M6G: Developmental delay, hypotonia, and impaired language
Disease Identifiers	MONDO ID MONDO_0859280 UMLS CUI C5774202 OMIM ID 620012 MedGen ID 1823975

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FBXW7	TT29KY7	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBXW7	OTJXE4OT	Strong	Autosomal dominant	[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.