Details of Disease

General Information of Disease (ID: DISTTDR1)

Disease Name Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Disease Hierarchy
DISYKSRF: Genetic disease
DISTTDR1: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Disease Identifiers
MONDO ID
MONDO_0859197
UMLS CUI
C5561997
OMIM ID
619556
MedGen ID
1794207

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
TNPO2 OTGHFQAV Strong Autosomal dominant [1]
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References

1 Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.