Details of Disease

General Information of Disease (ID: DIS9EOT2)

Disease Name Seckel syndrome 4
Synonyms Seckel syndrome 4; SCKL4; CENPJ Seckel syndrome; Seckel syndrome type 4; Seckel syndrome caused by mutation in CENPJ
Definition Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene.
Disease Hierarchy
DISEVUBA: Seckel syndrome
DISBDL4S: Microcephaly 6 with or without short stature
DIS9EOT2: Seckel syndrome 4
Disease Identifiers
MONDO ID
MONDO_0013358
UMLS CUI
C3888212
OMIM ID
613676
MedGen ID
854819

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
CENPJ OTZCQZN5 Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J Med Genet. 2003 Jul;40(7):540-2. doi: 10.1136/jmg.40.7.540.