Details of Disease | DrugMAP

General Information of Disease (ID: DISP500B)

Disease Name	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
Synonyms	CHEDDA; CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES
Disease Hierarchy	DISYKSRF: Genetic disease DISP500B: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
Disease Identifiers	MONDO ID MONDO_0032781 UMLS CUI C5193125 OMIM ID 618494 MedGen ID 1674629

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
ATN1	OTNZFLKY	Strong	Autosomal dominant	[1]
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References

1	De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. Am J Hum Genet. 2019 Mar 7;104(3):542-552. doi: 10.1016/j.ajhg.2019.01.013. Epub 2019 Feb 28.