Preaxial polydactyly-colobomata-intellectual disability syndrome

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Preaxial polydactyly-colobomata-intellectual disability syndrome is characterized by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.

Identifiers: MONDO:0017377 Orphanet:2921
Part of: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as: Pfeiffer Mayer syndrome · Pfeiffer-Mayer syndrome · short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities · short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities

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