PH is a rare autosomal recessive disorder
leading to elevated levels of endogenous oxalate causing kidney deterioration and a gradual calcification of soft tissues.
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder
caused by mutations in one of ten different genes that lead to platelet dense granule deficiency.
Leukocyte adhesion deficiency type I (LAD-1) is an autosomal recessive disorder
characterized by severe and recurrent bacterial infections, altered wound healing and significant morbidity that is caused by absent or diminished expression of integrins b2 class.
Allgrove's syndrome is an autosomal recessive disorder
with varied presentations.
To the Editor: Pompe disease, a rare autosomal recessive disorder
due to alpha-1,4-glucosidase (GAA) activity deficiency caused by its gene mutation, can cause an excessive lysosomal glycogen storage in muscular tissues.
Thalassemia is an inherited autosomal recessive disorder
which affect millions in the world and result in thousands of death each year.
Also, autosomal dominant or x-linked recessive disorder
has also been identified.
Joubert syndrome (JS) is a rare autosomal recessive disorder
, first described by Joubert in 1969.
Griscelli syndrome is another autosomal recessive disorder
that is characterised by similar partial oculocutaneous albinism with immunodeficiency, which is attributed to a mutation in one of three intracellular trafficking genes.
It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder
Haemophilia B is a deficiency in clotting factor 9 and is a gender-linked recessive disorder
This infant has an autosomal recessive disorder
described as multiple acyl-CoA dehydrogenase deficiency (MADD).