Among 13 patients with MYH9-related thrombocytopenia, 10 patients (77%) were asymptomatic, 1 patient (8%) suffered from sensorineural hearing loss, 1 patient (8%) had chronic renal failure and neurobehavioral disorders (19-I), and 1 patient (18-I) (8%) had facial dysmorphisms and Hirschsprung’s disease. Here, MYH9 is linked to Hirschsprung disease.