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Which disease is an inherited condition characterized by the absence of a single lysosomal enzyme called Hex A?
Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on (human) chromosome 15. It is a rare autosomal recessive genetic disorder. And not sex-linked.
it causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around six months of age and usually results in death by the age of four. Two Tay–Sachs alleles are required for an individual to exhibit symptoms of the disease. This means that both parents must be carriers.
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Which medical condition is characterized by grand mal and petit mal?
Epilepsy is the medical condition characterized by both grand mal seizures (generalized tonic-clonic seizures) and petit mal seizures (absence seizures). Epilepsy is a neurological disorder that causes abnormal brain activity leading to seizures. Treatment typically involves medications to help control and manage the seizures.
What is anophthalmia?
Anophthalmia is a birth defect characterized by the absence of one or both eyes. It can occur as an isolated condition or as part of a syndrome with other physical or developmental anomalies. Treatment may include prosthetic eyes and specialized care to address any associated issues.
The genotype xo results from what?
The genotype XO results from the absence of a second sex chromosome in an individual. This condition is known as Turner syndrome and is characterized by a single X chromosome in females instead of the usual two. It can lead to various developmental and physical abnormalities.
What is hypocalvaria?
Hypocalvaria is a condition in which the cranial bones are hypoplastic. It happens often after using ACE Inhibitors while pregnancy. Yours: Amir Kettanie.. Hypocalvaria is a condition in which the cranial bones are hypoplastic. It happens often after using ACE Inhibitors while pregnancy. Yours: Amir Kettanie..
The major biome characterized by relative absence of trees is the?
The major biome characterized by the relative absence of trees is the grassland biome. Grasslands are dominated by grasses and other herbaceous plants rather than large trees, with varying levels of precipitation influencing the specific types of grassland such as savannas, prairies, and steppes. These biomes are important habitats for a wide variety of wildlife and are often found in regions with seasonal climates.
What are anomers?
It is a state or condition of individuals or society characterized by a breakdown or absence of social norms and values, as in the case of uprooted people.
What are anomic activities?
It is a state or condition of individuals or society characterized by a breakdown or absence of social norms and values, as in the case of uprooted people.
Which condition is the absence of hydrochloric acid from gastric secretions?
Achlorhydria is the condition characterized by the absence of hydrochloric acid in gastric secretions. It can lead to impaired digestion and increased risk of gastrointestinal infections. Treatment may involve supplementation with hydrochloric acid.
Characterized by an absence of watchfullness?
sleep
Which is characterized by an absence of jaws?
sea horse
Which medical condition is characterized by grand mal and petit mal?
Epilepsy is the medical condition characterized by both grand mal seizures (generalized tonic-clonic seizures) and petit mal seizures (absence seizures). Epilepsy is a neurological disorder that causes abnormal brain activity leading to seizures. Treatment typically involves medications to help control and manage the seizures.
What is the name of the condition in which there is a complete absence of germs?
asepsis
What is a blood disorder characterized by an absence of all formed blood elements?
aplastic anemia
What is an agranulocyte?
An agranulocyte is a form of white blood cell characterized by the absence of granules in its cytoplasm.
What is anophthalmia?
Anophthalmia is a birth defect characterized by the absence of one or both eyes. It can occur as an isolated condition or as part of a syndrome with other physical or developmental anomalies. Treatment may include prosthetic eyes and specialized care to address any associated issues.
What does TH genetic defect mean in cattle?
TH genetic defect, or Tibial Hemimelia, is a congenital condition in cattle characterized by the partial or complete absence of the tibia, leading to severe limb deformities and other skeletal abnormalities. This defect is inherited in an autosomal recessive manner, meaning that both parents must carry the gene for a calf to be affected. Affected animals typically do not survive long after birth due to the significant challenges posed by their condition. Genetic testing can help identify carriers and reduce the incidence of TH in breeding programs.
What is the medical term meaning absence of the external ear?
The medical term for absence of the external ear is "anotia." This condition involves complete absence of the external ear.
