Details of Disease

General Information of Disease (ID: DISO5NMO)

Disease Name Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
Synonyms MCAND; multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive; Linked syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISO5NMO: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
Disease Identifiers
MONDO ID
MONDO_0025351
UMLS CUI
C5542341
OMIM ID
301056
MedGen ID
1788942

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
OTUD5 OTMCR6JM Strong X-linked [1]
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References

1 Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4.