Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cleft palate with ankyloglossia

Disorder
OMIM #: #303400  (Click to access OMIM database)
Disorder: Cleft palate with ankyloglossia 
Also known as:  
Clinical
Phenotype: cleft palate, ankyloglossia 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: TBX22
Base Change: G>T, at nucleotide 359
Amino Acid Change: gly 118 --> cys
Last updated: 2008-08-28 

References
Braybrook C, Doudney K, Marçano AC, Arnason A, Bjornsson A, Patton MA, Goodfellow PJ, Moore GE, Stanier P. (2001) The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat Genet 29(2):179-83.
PubMed ID: 11559848 
Gorski SM, Adams KJ, Birch PH, Chodirker BN, Greenberg CR, Goodfellow PJ. (1994) Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia native kindreds. Human Genet. 94:141-148.
PubMed ID: 8045560 

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