Details of Disease

General Information of Disease (ID: DISRA4KS)

Disease Name Intellectual developmental disorder with or without peripheral neuropathy
Disease Hierarchy
DISYKSRF: Genetic disease
DISRA4KS: Intellectual developmental disorder with or without peripheral neuropathy
Disease Identifiers
MONDO ID
MONDO_0859240
UMLS CUI
C5676969
OMIM ID
619844
MedGen ID
1807523

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
NUDT2 OTMHM1DH Strong Autosomal recessive [1]
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References

1 Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19.