Ads
related to: autosomal recessive disorders- Sign Up For More Updates
Register Now to Receive More Info
On Genetic Testing, Today
- About IRD
Learn More About Gene Variants
Find Out More About IRD
- Genetic Testing Benefits
View Potential Testing Benefits
Uncover New Insights & More Answers
- Steps to Genetic Testing
Learn More About Genetic Testing
& Help to Diagnose Your Patients
- Sign Up For More Updates
Search results
Results From The WOW.Com Content Network
Arterial tortuosity syndrome. Aspartylglucosaminuria. Atelosteogenesis, type II. Athabaskan brainstem dysgenesis syndrome. Atransferrinemia. Autosomal recessive axonal neuropathy with neuromyotonia. Autosomal recessive GTP cyclohydrolase I deficiency. Autosomal recessive multiple epiphyseal dysplasia.
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration. Symptoms can start to appear as early as ...
Chédiak–Higashi syndrome[1] (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, [2] which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy. In Chédiak–Higashi syndrome, the ...
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. It is one ...
Causes. Zellweger spectrum disorders are a group of autosomal recessive genetic disorders. They are caused due to pathogenic mutations in at least 13 different PEX genes that encode peroxins. [5] It affects the peroxisomes, which are organelles in the body that are meant to breakdown items like acids and toxic compounds.
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. [4] The syndrome was first identified in 1969 by pediatric neurologist Marie Joubert in ...
Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive [1] disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
Alström syndrome (AS), also called Alström–Hallgren syndrome, [1] is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy.