Details of Disease

General Information of Disease (ID: DIS484OJ)

Disease Name Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DIS484OJ: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
Disease Identifiers
MONDO ID
MONDO_0859236
UMLS CUI
C5676965
OMIM ID
619833
MedGen ID
1803456

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
NRCAM OT80HHQ2 Strong Autosomal recessive [1]
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References

1 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. Hum Mutat. 2019 Jun;40(6):801-815. doi: 10.1002/humu.23724. Epub 2019 Apr 29.