Whole exome sequencing identified candidate mutations in the UTRs of 3 genes, Eif2ak3, Mrpl35, and Usp39, but none has yet been proven causative. (J:176116)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count