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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
Pfeiffer Mayer syndrome
related
Pfeiffer-Mayer syndrome
exact
short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities
related
short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities
related