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Inflammatory myopathy. Allelic to McArdle disease (GSD-V) is a recently discovered disease that has a pathogenic autosomal dominant mutation in exon 16 of the PYGM gene c.1915G>C (p.Asp639His). Discovered in 2020, it affected 13 members of a family over four generations and has yet to be assigned a GSD number.
Glycogen storage disease type II has an autosomal recessive pattern of inheritance. Pompe disease has an autosomal recessive inheritance pattern. This means the defective gene is located on an autosome, and two faulty copies of the gene—one from each parent—are required to be born with the disorder. As with all cases of autosomal recessive ...
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel[1]) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. [2] It is characterized by intrauterine growth restriction and postnatal dwarfism with ...
Werner syndrome has an autosomal recessive pattern of inheritance. Werner syndrome (WS) or Werner's syndrome, also known as "adult progeria ", [1] is a rare, autosomal recessive disorder [2] which is characterized by the appearance of premature aging. [3] Werner syndrome is named after the German scientist Otto Werner. [4]
Trapezoidocephaly-synostosis syndrome, [1] Antley–Bixler syndrome has an autosomal recessive pattern of inheritance. Specialty. Medical genetics. Antley–Bixler syndrome is a rare, severe autosomal recessive [2] congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the ...
Griscelli syndrome is a rare autosomal recessive [1] disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Type 1 Griscelli Syndrome is associated ...
Gunther disease is a congenital form of erythropoietic porphyria. The word porphyria originated from the Greek word porphura. Porphura actually means "purple pigment", which, in suggestion, the color that the body fluid changes when a person has Gunther's disease. [3] It is a rare, autosomal recessive [4] metabolic disorder affecting heme ...
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. It is caused by a mutation in the ESCO2 gene.