Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.

An abnormally decreased calcium concentration in the urine.

An increased rate of urine production.

A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).

High urine potassium in the presence of hypokalemia.

An abnormally increased sodium concentration in the urine in the presence of hyponatremia.

The presence of chronic increased pressure in the systemic arterial system.

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).

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

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.

Excessive thirst manifested by excessive fluid intake.

A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.

Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.

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.

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

An abnormality characterized by chronic impairment of the normal functioning of the axons.

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

A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).

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.

Generalized muscular hypotonia (abnormally low muscle tone).

An abnormally decreased potassium concentration in the blood.

An abnormally decreased magnesium concentration in the blood.

An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.

Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.

An increased level of renin in the blood.