Details of Disease | DrugMAP

General Information of Disease (ID: DISW3CL3)

Disease Name	Neurodevelopmental disorder with dysmorphic facies and variable seizures
Synonyms	NEDDFAS
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISW3CL3: Neurodevelopmental disorder with dysmorphic facies and variable seizures
Disease Identifiers	MONDO ID MONDO_0031011 UMLS CUI C5543268 OMIM ID 619264 MedGen ID 1784197

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
EMC10	OTQ6S50X	Strong	Autosomal recessive	[1]
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References

1	Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants. Sci Rep. 2018 Jun 8;8(1):8775. doi: 10.1038/s41598-018-26274-y.