An abnormal shortening of the femur.

The gradual reduction in girth of the finger from proximal to distal.

Underdevelopment of the humerus.

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Difficulty in swallowing.

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

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.

A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.

Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.

Underdevelopment of the corpus callosum.

A degree of language development that is significantly below the norm for a child of a specified age.

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.

Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.

An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.

Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.

A proneness to anger, i.e., a tendency to become easily bothered or annoyed.

Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).

Delayed myelination in the central nervous system.

Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.

A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.

Head circumference below 2 standard deviations below the mean for age and gender.

Body temperature elevated above the normal range.

Habitual flow of saliva out of the mouth.

Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.

Increased density/number and/or increased diameter of eyebrow hairs.

Increased prominence or roundness of soft tissues between zygomata and mandible.

Decreased length of the umbilical cord.

A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.

A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.