Details of Disease | DrugMAP

General Information of Disease (ID: DIS094OL)

Disease Name	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
Synonyms	NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; NEDCFSA
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DIS094OL: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
Disease Identifiers	MONDO ID MONDO_0032790 UMLS CUI C5193134 OMIM ID 618505 MedGen ID 1682403

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
KDM6B	TTDIJUQ	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
KDM6B	OTMZVHSG	Strong	Autosomal dominant	[1]
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References

1	Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features. Am J Med Genet A. 2019 Jul;179(7):1276-1286. doi: 10.1002/ajmg.a.61173. Epub 2019 May 23.