Disease causing gene changes in PPP1CB are responsible for Noonan syndrome with loose anagen hair type 2 (NSLH2), a rare condition inherited in an autosomal dominant manner. To date less than 25 patients have been reported in the published literature and the presentation is variable. Common findings include short stature, dysmorphic features, cardiovascular (heart and blood vessels) manifestations, café-au-lait spots/freckles (skin findings), abnormal hair and developmental delays; seizures have also been described and in some cases central nervous system structural abnormalities.
PPP1CB