A rare inherited genetic disorder, caused by a deficiency of HGPRT, in which uric acid builds up in all body fluids.

(rare) gender identity disorder

An aneuploidy of the sex chromosomes in which a human male receives an extra Y chromosome, giving a total of 47 chromosomes instead of the usual 46; the condition is associated with learning difficulties and above-average height.

abetalipoproteinemia

A group of mental phenomena involving religious delusion or obsession relating to the city of Jerusalem.

A neurological disorder characterized by a constellation of symptoms that suggest the presence of a lesion in a particular area of the brain.

A rare genetic disorder linked to the X chromosome, causing physical anomalies and developmental delays, characterised by retardation, hyperactive behaviour, constipation, hypotonia, and a characteristic facial appearance.

A rare symptom of brain damage occurring in the occipital lobe, in which the patient is "cortically blind" but affirms that he or she is capable of seeing.

A relatively common autosomal-dominant congenital disorder, a form of dwarfism accompanied by heart defect, learning difficulties, and a characteristic facial appearance.

obesity hypoventilation syndrome