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Cerebrooculofacioskeletal syndrome 1
An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. [from NCI]
Deep longitudinal plantar crease
Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot. [from HPO]
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