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Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
rareIntellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterized 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.
- Identifiers
- MONDO:0015458 Orphanet:1495
- Also known as
- Da Silva syndrome · intellectual disability - hypoplastic corpus callosum - preauricular tag
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