Details of Disease

General Information of Disease (ID: DISWV4LU)

Disease Name Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISWV4LU: Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Disease Identifiers
MONDO ID
MONDO_0859207
UMLS CUI
C5562031
OMIM ID
619639
MedGen ID
1794241

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
UBE4A OTO4BYWL Strong Autosomal recessive [1]
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References

1 Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19.