Details of Disease | DrugMAP

General Information of Disease (ID: DISLP2XI)

Disease Name	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISLP2XI: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Disease Identifiers	MONDO ID MONDO_0859286 UMLS CUI C5774213 OMIM ID 620029 MedGen ID 1823986

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNA1C	DTAIV1Z	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
CACNA1C	OT6KFNMS	Strong	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.