Details of Disease

General Information of Disease (ID: DISZ8K7C)

Disease Name Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISZ8K7C: Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
Disease Identifiers
MONDO ID
MONDO_0859085
UMLS CUI
C5774179
OMIM ID
301094
MedGen ID
1823953

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
TCEAL1 OTAPG2L5 Strong X-linked [1]
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References

1 A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies. BMC Neurol. 2016 Aug 9;16:132. doi: 10.1186/s12883-016-0642-z.