Details of Disease | DrugMAP

General Information of Disease (ID: DIS53611)

Disease Name	Houge-Janssens syndrome 3
Synonyms	NEDLBA; neurodevelopmental disorder and language delay with or without structural brain abnormalities
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISW4D10: Houge-Janssens syndrome DIS53611: Houge-Janssens syndrome 3
Disease Identifiers	MONDO ID MONDO_0032697 UMLS CUI C5193048 OMIM ID 618354 MedGen ID 1677130

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
PPP2CA	TTHTKNY	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
PPP2CA	OT83PT85	Strong	Autosomal dominant	[1]
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References

1	A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med. 2017 Sep;19(9):1055-1063. doi: 10.1038/gim.2017.1. Epub 2017 Mar 23.