Details of Disease | DrugMAP

General Information of Disease (ID: DISMSS9S)

Disease Name	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
Synonyms	NEDBAVC; NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISMSS9S: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
Disease Identifiers	MONDO ID MONDO_0032888 UMLS CUI C5231481 OMIM ID 618731 MedGen ID 1684772

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
DHX37	OTM1A5KP	Strong	Autosomal recessive	[1]
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References

1	Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.