Amish, Mennonite, and Hutterite
Genetic Disorder Database

Failure to thrive, developmental delay, liver dysfunction, and abnormal subcortical white matter

Disorder
OMIM #: *603623  (Click to access OMIM database)
Disorder: Failure to thrive, developmental delay, liver dysfunction, and abnormal subcortical white matter 
Also known as:  
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: YARS
Base Change: C>A, at nucleotide 499
Amino Acid Change: pro 167 --> thr
Last updated: 2019-12-06 

References
Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder M, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. (2018) Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Hum Mol Genet Feb 15;28(4):525-538.
PubMed ID: 30304524 

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