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spondyloepimetaphyseal dysplasia, Genevieve type

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.
Uniprot Description An autosomal recessive disorder characterized by global developmental delay with infantile onset, mental retardation, skeletal dysplasia, and short stature. Skeletal findings include flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, premature carpal ossification and small carpal bones.
Mondo Term and Equivalent IDs
MONDO:0012495:  spondyloepimetaphyseal dysplasia, Genevieve type
DOID:0080576: 
GARD:0010057: 
MESH:C535785: 
Orphanet:168454: 
UMLS:C1864872: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found