Amish, Mennonite, and Hutterite
Genetic Disorder Database

Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED)

OMIM #: #614501  (Click to access OMIM database)
Disorder: Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) 
Also known as:  
Phenotype: skull dysplasia, severe psychomotor delay, intractable seizures, bulbous nose, wide mouth and tongue, broad jaw with protuberant angles, short hands, short tapered fingers, broad thumbs 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
1   Amish  
Gene: SNIP1
Base Change: A>G, at nucleotide 1097
Amino Acid Change: glu 336 --> gly
Last updated: 2015-04-15 

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