Details of Disease

General Information of Disease (ID: DISLVDTL)

Disease Name Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISLVDTL: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
Disease Identifiers
MONDO ID
MONDO_0859297
UMLS CUI
C5774231
OMIM ID
620073
MedGen ID
1824004

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
HNRNPR OT3FITK2 Strong Autosomal dominant [1]
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References

1 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016 Sep;18(9):898-905. doi: 10.1038/gim.2015.186. Epub 2016 Jan 21.