skeletal dysplasia-epilepsy-short stature syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0018230
skeletal dysplasia
is_a
MONDO:0019054
congenital limb malformation
is_a
Gurrieri-Sammito-Bellussi syndrome
exact
intellectual disability, epilepsy, short stature and skeletal dysplasia
related
mental retardation, epilepsy, short stature and skeletal dysplasia
related