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.

Increased levels of protein in the urine.

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).

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

Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

Accumulation of fluid in the peritoneal cavity.

A decreased magnitude of the sensory perception of sound.

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.

A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.

An increase in size of the ventricular system of the brain.

The presence of an abnormal lateral curvature of the spine.

Lack of subcutaneous adipose tissue.

Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.

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

Reduction in the concentration of albumin in the blood.

Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

Developmental hypoplasia of the dental enamel.

Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.

Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.

Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).

Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.

Partial or complete wasting (atrophy) of the skin.

Skin characterized by the lack of natural or normal moisture.

An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.

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.

An eye that is more deeply recessed into the plane of the face than is typical.

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.

Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.