Details of Disease

General Information of Disease (ID: DISEVP9C)

Disease Name Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISEVP9C: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
Disease Identifiers
MONDO ID
MONDO_0859266
UMLS CUI
C5774185
OMIM ID
619972
MedGen ID
1823958

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
TAF8 OTWWGCHV Strong Autosomal recessive [1]
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References

1 [National Organization of Norwegian Student Nurses]. Sykepleien. 1977 Sep 20;64(15):843.