Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).

An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.

Thickening of the heart walls in both ventricles.

A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.

Absence of neurologic reflexes such as the knee-jerk reaction.

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

A severe delay in the achievement of motor or mental milestones in the domains of development of a child.

Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.

Protrusion of the contents of the abdominal cavity through the inguinal canal.

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.

Respiratory difficulty as newborn.