Details of Disease | DrugMAP

General Information of Disease (ID: DIS266RW)

Disease Name	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
Synonyms	NEDFASB; neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DIS266RW: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
Disease Identifiers	MONDO ID MONDO_0030852 UMLS CUI C5436821 OMIM ID 619103 MedGen ID 1777442

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
KAT5	OTL7257A	Strong	Autosomal dominant	[1]
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References

1	Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. Hum Genet. 2017 Apr;136(4):409-420. doi: 10.1007/s00439-017-1767-x. Epub 2017 Feb 17.