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deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).
Mondo Term and Equivalent IDs
MONDO:0017920:  deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
GARD:0004303: 
MESH:C537887: 
Orphanet:3224: 
SCTID:721086004: 
UMLS:C2931654: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found