Disorder "Craniosynostosis"
Found 1 record
Disorder information
Disorder name:
Craniosynostosis 
Disoder ID:
DOID_2340  
OMIM entry:
OMIM:123100 ,OMIM:182212 ,OMIM:600593 ,OMIM:600775 ,OMIM:604757 ,OMIM:615314  
Synonyms:
Premature closure of cranial sutures 
Definition:
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. 
Modifier statisitcs
Record:
1 
Gene:
1 
Variant:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
Intergenic Intergenic:n.7106289T>C Penetrance  Altered incidence  Pedigree analysis  Increased incidencemore
27606499
more
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