Finnish heritage disease

condition involving a decreased ability to digest lactose due to a lack of lactase in the small intestines, either genetically or from injury

syndrome characterized by a combination of hearing loss and visual impairment

extremely rare and fatal autosomal recessive neurodegenerative disorder in humans

a rare, lethal, ciliopathic, genetic disorder with malformations of the urinary system, of central nervous system, hepatic developmental defects, and pulmonary hypoplasia.

Choroideremia (; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life. Progression continues throughout the individual's life, but both the rate of change and the degree of visual loss are variable among those affected, even within the same family.

Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory layers, usually in the outer plexiform layer. Retinoschisis can be divided into degenerative forms which are very common and almost exclusively involve the peripheral retina and hereditary forms which are rare and involve the central retina and sometimes the peripheral retina. The degenerative forms are asymptomatic and involve the peripheral retina only and do not affect the visual acuity. Some rarer forms result in a loss of vision in the corresponding visual field.

a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity

Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues. AGU is a autosomal recessive disease.

Human disease

medical condition

group of autosomal recessive genetic disorders that affect Finns much more frequently

Human disease

osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the SLC26A2 gene which results in short limb dwarfism

inherited metabolic disease

metaphyseal dysplasia that results in short-limbed dwarfism and fine sparse hair

gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female

autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs

Human disease

autosomal recessive lysosomal storage disease

amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues

Human disease

late-onset muscular dystrophy beginning in the anterior comparment of the legs

disease

Human disease

human disease