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short stature-brachydactyly-obesity-global developmental delay syndrome

Disease Summary
Associated Targets (1)
Tchem

1


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Uniprot Description An autosomal recessive disease characterized by developmental delay, learning disabilities, mild mental retardation, delayed speech, and skeletal abnormalities. Skeletal features include short stature, brachydactyly, and short metacarpals and metatarsals.
Mondo Term and Equivalent IDs
MONDO:0014944:  short stature-brachydactyly-obesity-global developmental delay syndrome
Orphanet:464288: 
UMLS:C4310689: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found