Midline indentation or cleft of the scrotum.

Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.

Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.

Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.

Location of the urethral opening on the inferior aspect of the penis.

Ambiguous genitalia in an individual with XY genetic gender.

Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

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

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

An abnormality in which the mandible is mislocalised posteriorly.

Ribs with a reduced diameter.

An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).

The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.

Generalized muscular hypotonia (abnormally low muscle tone).

Collapse of part of a lung associated with absence of inflation (air) of that part.

Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

The presence of excess amniotic fluid in the uterus during pregnancy.

An abnormal reduction in quantity or strength of fetal movements.