Amish, Mennonite, and Hutterite
Genetic Disorder Database

Jalili syndrome

Disorder
OMIM #: #217080  (Click to access OMIM database)
Disorder: Jalili syndrome 
Also known as:  
Clinical
Phenotype: cone-rod dystrophy/early-onset childhood retinal dystrophy; amelogenesis imperfecta 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CNNM4
Base Change: C>T, at nucleotide 1813
Amino Acid Change: arg 605 --> term
Last updated: 2019-02-19 

References
Li S, Xi Q, Zhang X, Yu D, Li L, Jiang Z, Chen Q, Wang QK, Traboulsi EI. (2018) Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1. Mol Genet Genomics Jun;293(3):699-710.
PubMed ID: 29322253 

Back