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A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. It is considered to be a mild variant of Roberts syndrome.
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A rare, autosomal recessive inherited syndrome caused by mutations in the ESCO2 gene. It is characterized by limb and facial abnormalities and slow growth. Intellectual impairment occurs in approximately half of the affected individuals.
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