Details of Disease

General Information of Disease (ID: DIS72RRQ)

Disease Name Neurodevelopmental disorder with central and peripheral motor dysfunction
Synonyms NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION; NEDCPMD
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS72RRQ: Neurodevelopmental disorder with central and peripheral motor dysfunction
Disease Identifiers
MONDO ID
MONDO_0032698
UMLS CUI
C5193049
OMIM ID
618356
MedGen ID
1674767

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
NFASC OTBDUXZT Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Neurofascins are required to establish axonal domains for saltatory conduction. Neuron. 2005 Dec 8;48(5):737-42. doi: 10.1016/j.neuron.2005.10.019.