Details of Disease

General Information of Disease (ID: DISMQH8Y)

Disease Name Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISMQH8Y: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
Disease Identifiers
MONDO ID
MONDO_0859212
UMLS CUI
C5562040
OMIM ID
619653
MedGen ID
1794250

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
TNR OTVJGAFN Strong Autosomal recessive [1]
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References

1 Severe cognitive and motor coordination deficits in tenascin-R-deficient mice. Genes Brain Behav. 2003 Feb;2(1):20-31. doi: 10.1034/j.1601-183x.2003.00003.x.