label: skeletal dysplasia-epilepsy-short stature syndrome
label_lc: skeletal dysplasia-epilepsy-short stature syndrome
description: Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.