Preaxial polydactyly-colobomata-intellectual disability syndrome

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.

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

0 clinical trials for this condition and its sub-types, 0 tagged with Preaxial polydactyly-colobomata-intellectual disability syndrome itself.