Details of Disease

General Information of Disease (ID: DISR99J3)

Disease Name Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISR99J3: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Disease Identifiers
MONDO ID
MONDO_0859179
UMLS CUI
C5551361
OMIM ID
619480
MedGen ID
1790413

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
SUPT16H OT9XWMQZ Strong Autosomal dominant [1]
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References

1 Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay. Am J Med Genet A. 2016 May;170A(5):1325-9. doi: 10.1002/ajmg.a.37579. Epub 2016 Feb 2.