Review of clinical information from 24 patients with PRR12 mutations showed that all patients had developmental impairment in one study, though ascertainment bias cannot be ruled out. At least one individual had no reported developmental issues in the other study.
Variable structural eye defects were observed in 12/24 individuals (50%) (including anophthalmia, microphthalmia, colobomas, optic nerve and iris abnormalities) in one study. Another study described eye anomalies in all 5 individuals reported, who were ascertained via their ocular phenotype.
Additional common features included hypotonia (61%), heart defects (52%), growth failure (54%), and kidney anomalies (35%) in the large study. While dysmorphic facial features were common, they were not consistent and did not constitute a recognizable pattern.
PRR12