Details of Disease

General Information of Disease (ID: DISB295G)

Disease Name Okur-Chung neurodevelopmental syndrome
Synonyms Okur-Chung neurodevelopmental syndrome; Okur-Chung neurodevelopmental syndrome; OCNDS; OCNDS
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISB295G: Okur-Chung neurodevelopmental syndrome
Disease Identifiers
MONDO ID
MONDO_0014893
UMLS CUI
C4310739
OMIM ID
617062
MedGen ID
934706

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CSNK2A1 TTER6YH Limited Genetic Variation [1]
CSNK2A1 TTER6YH Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CSNK2A1 OT9T8WQM Definitive Autosomal dominant [2]
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References

1 Okur-Chung neurodevelopmental syndrome in a patient from Spain.Am J Med Genet A. 2020 Jan;182(1):20-24. doi: 10.1002/ajmg.a.61405. Epub 2019 Nov 15.
2 De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016 Jul;135(7):699-705. doi: 10.1007/s00439-016-1661-y. Epub 2016 Apr 5.