Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.

Abnormally late or absent menarche in a female with normal secondary sexual characteristics.

The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.

A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent

Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.

Gliosis is the focal proliferation of glial cells in the central nervous system.

A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.

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.

Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.

A shaky or wobbly manner of walking.

An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.

An abnormal shift in patterns of thinking, acting, or feeling.

This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.

A loss of myelin from nerve fibers in the central nervous system.

The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.

Loss of developmental skills, as manifested by loss of developmental milestones.

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

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).

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.

Stagnation of head growth seen as flattening of the head circumference curve.

Body temperature elevated above the normal range.

An reduced concentration of progesterone in the blood.

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.