Autosomal recessive omodysplasia is a rare genetic disorder that affects the development of bones and joints. It is caused by mutations in the gene that codes for the protein filamin B. Symptoms of this disorder include short stature, joint stiffn...

Autosomal recessive optic atrophy, OPA7 type is a rare genetic disorder that affects the eyes. It is caused by mutations in the OPA7 gene, which is responsible for producing a protein that is essential for the normal functioning of the optic nerve...

Autosomal recessive palmoplantar keratoderma and congenital alopecia is a rare genetic disorder characterized by thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and hair loss (alopecia) at birth. It is caused b...

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder that affects the kidneys and liver. It is caused by a mutation in the PKHD1 gene, which is responsible for the production of a protein called fibrocystin. This protei...

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity (AR-NKCC) is a rare genetic disorder that affects the immune system. People with this condition have an increased risk of recurrent infections...

Autosomal recessive progressive external ophthalmoplegia (AR-PEO) is a rare genetic disorder that affects the muscles that control eye movement. It is characterized by progressive weakness and paralysis of the muscles that control eye movement, re...

Autosomal recessive proximal renal tubular acidosis (AR-PRTA) is a rare inherited disorder that affects the kidneys. It is caused by a mutation in the SLC4A1 gene, which is responsible for the production of a protein called sodium bicarbonate cotr...

Autosomal recessive Robinow syndrome is a rare genetic disorder that affects the development of bones and other parts of the body. It is caused by mutations in the ROR2 gene. Symptoms can include short stature, skeletal abnormalities, facial dysmo...

Autosomal recessive secondary polycythemia not associated with VHL gene is a rare genetic disorder characterized by an increase in the number of red blood cells in the body. It is caused by mutations in genes other than the VHL gene, which is resp...

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare genetic disorder that affects the production of neutrophils, a type of white blood cell. People with this disorder have a mutation in the CSF3R gene, which is resp...

Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a rare genetic disorder that affects the body's ability to produce neutrophils, a type of white blood cell that helps fight infection. People with this disorder have very...

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare genetic disorder caused by mutations in the G6PC3 gene. This disorder is characterized by a severe reduction in the number of neutrophils, a type of white blood ce...

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare genetic disorder caused by mutations in the JAGN1 gene. It is characterized by a severe reduction in the number of neutrophils, a type of white blood cell that hel...

Autosomal recessive sideroblastic anemia is a rare inherited blood disorder in which the body is unable to produce enough healthy red blood cells. It is caused by a genetic mutation that affects the production of hemoglobin, the protein in red blo...

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare, inherited neurological disorder that affects the nervous system. It is characterized by progressive spasticity, ataxia, and intellectual disability. Symptoms usually beg...

Autosomal recessive spastic ataxia with leukoencephalopathy (ARSAL) is a rare, inherited neurological disorder characterized by progressive spasticity, ataxia, and leukoencephalopathy. Symptoms typically begin in childhood and include difficulty w...