Details of Disease

General Information of Disease (ID: DISUJXFQ)

Disease Name Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Synonyms CIMDAG syndrome
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISUJXFQ: Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Disease Identifiers
MONDO ID
MONDO_0035819
UMLS CUI
C5543287
OMIM ID
619273
MedGen ID
1780242
Orphanet ID
603448

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
VPS4A OT1CZDZU Strong Autosomal dominant [1]
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References

1 De novo mutations in moderate or severe intellectual disability. PLoS Genet. 2014 Oct 30;10(10):e1004772. doi: 10.1371/journal.pgen.1004772. eCollection 2014 Oct.