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skeletal dysplasia-epilepsy-short stature syndrome

Disease Summary
Associated Targets (0)

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Mondo 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.
Mondo Term and Equivalent IDs
MONDO:0011011:  skeletal dysplasia-epilepsy-short stature syndrome
GARD:0000350: 
MESH:C537625: 
Orphanet:1858: 
SCTID:715428003: 
UMLS:C0796046: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found