Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cleidocranial dysplasia

Disorder
OMIM #: #119600  (Click to access OMIM database)
Disorder: Cleidocranial dysplasia 
Also known as: CCD
CLEIDOCRANIAL DYSOSTOSIS (CLCD) 
Clinical
Phenotype: ossification abnormalities, late eruption of teeth, other teeth anomalies, hypoplastic clavicles, delayed closure of fontanelles 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: RUNX2
Base Change: A>G, at nucleotide 598
Amino Acid Change: thr 200 --> ala
Last updated: 2017-11-03 

References
Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb BD, Pirinen S, Berry SA, Greenberg CR, Karsenty G, Lee B. (1999) CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet 8(12):2311-6.
PubMed ID: 10545612 

Back