A deletion in the chromosomal region 22q11 is often found in patients with congenital heart defects (typically conotruncal defects).

Obesity is an increasing problem in industrialized countries. Dramatically increasing mortality and morbidity from hypertension …

Skeletal dysplasia due to mutations in the FGFR3 gene, achondroplasia, are the most frequent cause of disproportionate undergrowth.

Obesity is an increasing problem in industrialized countries. Dramatically increasing mortality and morbidity from hypertension …

Autistic disorders comprise a group of profound developmental disorders of the brain that are present from birth and appear symptomatically in the first few years of life.

Glaucoma describes a group of eye diseases in which the optic nerves are increasingly damaged. Glaucoma is one of the most common causes of irreversible blindness. Other symptoms include increased intraocular pressure, increasing enlargement of the eye (buphthalmus) and abnormal sensitivity to light (photophobia).

Mental retardation describes the developmental disorder with intellectual disabilities. Affected patients are characterized by impaired cognitive and adaptive abilities and show a reduced intelligence (IQ <70). The prevalence in the population is about 2%.

Acute intermittent porphyria (AIP) is inherited autosomal dominant and is the most common form of acute porphyria.