Details of Disease

General Information of Disease (ID: DISZZHB0)

Disease Name Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
Synonyms INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS; Chromosome 12Q15 Deletion Syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISZZHB0: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
Disease Identifiers
MONDO ID
MONDO_0032832
UMLS CUI
C5231426
OMIM ID
618608
MedGen ID
1684881

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
CNOT2 OT98OJ42 Strong Autosomal dominant [1]
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References

1 Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr;49(4):504-510. doi: 10.1038/ng.3789. Epub 2017 Feb 13.