Details of Disease | DrugMAP

General Information of Disease (ID: DISDLBTL)

Disease Name	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Synonyms	NEDHIB; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISDLBTL: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Disease Identifiers	MONDO ID MONDO_0032829 UMLS CUI C5231423 OMIM ID 618603 MedGen ID 1684818

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
POLR2A	OTHJQ1DZ	Strong	Autosomal dominant	[1]
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References

1	De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25.