Details of Disease | DrugMAP

General Information of Disease (ID: DISY4LCH)

Disease Name	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Synonyms	NEDBAF; NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISY4LCH: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Disease Identifiers	MONDO ID MONDO_0032820 UMLS CUI C5231416 OMIM ID 618577 MedGen ID 1684725

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
RAC3	TT9BQ50	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
RAC3	OT2RE7A7	Strong	Autosomal dominant	[1]
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References

1	WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21.