Patients rarely live beyond 1 year of age (mean age
at death is approximately 12 weeks). Neurologic signs include severe hypotonia,
psychomotor retardation, inability to suck, agenesis of the corpus callosum,
and absent neonatal reflexes. Patients have low-set ears, small mandible,
and glaucoma. Cardiac defects may include patent ductus arteriosus, aortic
abnormalities, and septal defects. Other features can include enlarged
clitoris, hypospadias, and finger flexion.