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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1495
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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