Mowat-Wilson syndrome is a rare genetic mutation, with the main symptoms being mild to severe mental retardation, cerebral spasms, and various congenital malformations, such as Hirschsprung's disease, heart defects, and ocular abnormalities.
The motor neurone disease Madras is a syndrome that causes severe limb weakness.
Wilson disease is a rare autosomal recessive disease that causes copper metabolism disorders.
Waldenström macroglobulinemia represents a malignant proliferative disease of B cells.
Pompe disease is a lysosomal glycogen storage disease that affects skeletal and respiratory musculature to varying degrees of severity and can occur at any age.
Mucopolysaccharidosis II , also known as Hunter's disease, is an inheritable metabolic disease.
Gaucher disease (Gaucher syndrome) is a genetic lipid metabolism disorder. It is the most common lysosomal storage disease from the group of sphingolipidoses.
Fabry disease is a congenital metabolic disorder and is one of the lysosomal storage diseases.
Darier's disease is a hereditary skin disease with cornification disorder (hyperkeratosis).
Castleman's disease is understood as a hypertrophy of the lymph nodes with an angiofollicular lymphatic hyperplasia.
Ankylosing spondylitis is a chronic inflammatory rheumatic disease in the pelvis and spine.
Monosomy 18p describes a chromosomal disease in which a partial or complete deletion of the short arm of a chromosome 18 occurs.
Moebius syndrome is a rare congenital neurological disease whose main symptoms are facial paralysis and eye muscle paralysis. Additionally, abnormalities of the extremities and the trunk are conspicuous.
The microphthalmia, which is based on a disturbance of the eye development, refers to a rudimentary formation of one or both eyeballs.
Mevalonic aciduria describes the autosomal recessive inherited deficiency of mevalonate kinase (MVK). MVK is the first key enzyme in the biosynthetic pathway of cholesterol.
Vitamin B12-responive methylmalonic acidemia describes an autosomal recessive metabolic disorder that belongs to the group of organoacidopathies.
Methylmalonic acidemia with homocystinuria is a metabolic disease due to a congenital defect in vitamin B12-cobalamin metabolism.
Mesothelioma is a malignant tumor of the mesothelium that grows diffusely and occurs in the pleura, pericardium, peritoneum and man on the tunica vaginalis testis.
The type Verloes-David-Pfeiffer of mesomelen dysplasia, also called mesomelia synostosis syndrome (MSS), is caused by a contiguous gene deletion. Significant symptoms include advanced flexion of the forearms and thighs.
The type Langer of mesomelic dysplasia is characterized by severe disproportional dwarfism and mesomeler and rhizomelic shortening of the upper and lower limbs.