Clinical characteristics
Truncating germline mutations in the last and penultimate exon of PPM1D cause intellectual disability (ID), behavioral problems, sensitivity for sounds, high pain threshold, hypotonia, broad based gait, periods of fever and vomiting, short stature, small hands and feet and overlapping facial features.
Prevalence
The prevalence is currently unknown, but germline mutations in PPM1D are very rare.
Inheritance
ID-related PPM1D mutations are inherited in an autosomal dominant manner, but to date all cases result from a de novo PPM1D mutation.