Amish, Mennonite, and Hutterite
Genetic Disorder Database

Holt-Oram syndrome

Disorder
OMIM #: #142900  (Click to access OMIM database)
Disorder: Holt-Oram syndrome 
Also known as: HOS1 HEART-HAND SYNDROME ATRIODIGITAL DYSPLASIA  
Clinical
Phenotype: abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion - triphalangeal thumb with a secundum atrial septal defect (ASD) 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: TBX5
Base Change: ins.C, at nucleotide 474
Amino Acid Change: Frame shift
Last updated: 2019-07-05 

References
Personal communication; seen at CSC.  

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