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radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.
Mondo Term and Equivalent IDs
MONDO:0008357:  radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
GARD:0004626: 
MESH:C536262: 
Orphanet:2252: 
SCTID:716092007: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found