syndromic intellectual disability syndromic disease skeletal dysplasia-epilepsy-short stature syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/gurrieri_syndrome https://www.malacards.org/card/skeletal_dysplasia_epilepsy_short_stature_syndrome Gurrieri-Sammito-Bellussi syndrome mental retardation, epilepsy, short stature and skeletal dysplasia intellectual disability, epilepsy, short stature and skeletal dysplasia MESH:C537625 UMLS:C0796046 SCTID:715428003 GARD:0000350 MEDGEN:208660 MONDO:0011011 Orphanet:1858 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. OMIM:601187 skeletal dysplasia congenital limb malformation