Wilson's Disease is a rare autosomal recessive disorder
caused by mutations in the ATP7B gene, resulting in deficient production of the copper-transporter ATPase-2.
It is known as an autosomal recessive disorder
, which means both parents must carry copies of the mutation for a child to be affected.
Joubert syndrome is a rare autosomal recessive disorder
affecting the brainstem and cerebellum.
PH is a rare autosomal recessive disorder
leading to markedly elevated levels of endogenous oxalate in plasma and urine.
SMA is the second most common pediatric autosomal recessive disorder
with an incidence of one in 6,000 live births.
Although the gene was not discovered until 1996, recognition that FA is an autosomal recessive disorder
occurred in 1976 (11).
The molar tooth sign was initially identified in Joubert syndrome, named after Marie Joubert who first described it in 1968 as a rare autosomal recessive disorder
characterised by the neuroradiological hallmark of the molar tooth sign caused by cerebellar vermian hypoplasia.
Primary deficiency of MPO is inherited as an autosomal recessive disorder
2) In contrast, Ribbing disease is an autosomal recessive disorder
that usually presents after puberty, commonly found in women, where skull is spared, and asymmetric intramedullary diaphyseal scleroses of long bones is seen.
By far the most common of the urea cycle defects is the X-linked recessive disorder
, ornithine transcarbamylase deficiency (OTC).
Familial dysautonomia is an autosomal recessive disorder
that affects the sensory and autonomic nervous system.
Gaucher disease is an autosomal recessive disorder
caused by mutations in the GBA gene which results in a deficiency of the lysosomal enzyme beta-glucocerebrosidase.