Details of Disease

General Information of Disease (ID: DISJ54CE)

Disease Name Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Disease Hierarchy
DISYKSRF: Genetic disease
DISJ54CE: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Disease Identifiers
MONDO ID
MONDO_0859202
UMLS CUI
C5562012
OMIM ID
619595
MedGen ID
1794222

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
SRCAP OT82P6CN Definitive 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.