Details of Disease

General Information of Disease (ID: DIS6FWH7)

Disease Name Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DIS6FWH7: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
Disease Identifiers
MONDO ID
MONDO_0859141
UMLS CUI
C5543332
OMIM ID
619306
MedGen ID
1786150

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
EXOC2 OT5QG1WG Limited Unknown [1]
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References

1 Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. Hum Mol Genet. 2011 Sep 15;20(18):3718-24. doi: 10.1093/hmg/ddr287. Epub 2011 Jun 23.