General Information of Disease (ID: DISIO2Q0)

Disease Name Microcephaly 9, primary, autosomal recessive
Synonyms MCPH9; microcephaly 9, primary, autosomal recessive; autosomal recessive primary microcephaly caused by mutation in CEP152; CEP152 autosomal recessive primary microcephaly
Definition Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.
Disease Hierarchy
DIS29IE3: Autosomal recessive primary microcephaly
DISIO2Q0: Microcephaly 9, primary, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0013923
UMLS CUI
C3553886
OMIM ID
614852
MedGen ID
766800

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
CEP152 OTOKZR9B Strong Autosomal recessive [1]
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References

1 Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet. 2010 Jul 9;87(1):40-51. doi: 10.1016/j.ajhg.2010.06.003.