Details of Disease

General Information of Disease (ID: DISNT9JK)

Disease Name CEBALID syndrome
Synonyms
CEBALID; CEBALID SYNDROME; Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development; MN1 C-terminal truncation syndrome; MCTT
Disease Hierarchy
DISYKSRF: Genetic disease
DISNT9JK: CEBALID syndrome
Disease Identifiers
MONDO ID
MONDO_0032908
UMLS CUI
C5394044
OMIM ID
618774
MedGen ID
1710973

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
MN1 OTVQR4R9 Strong Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.