Amish, Mennonite, and Hutterite
Genetic Disorder Database

Mental retardation, autosomal recessive 34 (MRT34)

Disorder
OMIM #: #614499  (Click to access OMIM database)
Disorder: Mental retardation, autosomal recessive 34 (MRT34) 
Also known as:  
Clinical
Phenotype: Delayed language development, mild-moderate mental retardation  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: CRADD
Base Change: G>C, at nucleotide 382
Amino Acid Change: gly 128 --> arg
Last updated: 2015-04-23 

References
Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 7(1):e28936.
PubMed ID: 22279524 

Back