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radioulnar synostosis-developmental delay-hypotonia syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).
Mondo Term and Equivalent IDs
MONDO:0009952:  radioulnar synostosis-developmental delay-hypotonia syndrome
GWAS Targets (0)
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Disease Hierarchy
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