Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome (ARIS) is a rare genetic disorder characterized by a combination of neurological and ocular symptoms. It is caused by mutations in the SLC25A12 gene, which is re...

Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac sympto...

Autosomal recessive lower motor neuron disease with childhood onset is a rare genetic disorder that affects the lower motor neurons in the brain and spinal cord. It is characterized by progressive muscle weakness and wasting, as well as difficulty...

Autosomal recessive malignant osteopetrosis is a rare genetic disorder that affects the bones. It is caused by mutations in the CLCN7 gene, which is responsible for the production of a protein that helps regulate the activity of certain cells in t...

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency is a rare genetic disorder caused by mutations in the RORgamma gene. This gene is responsible for the production of a protein calle...

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency is a rare genetic disorder caused by mutations in the JAK1 gene. This disorder affects the immune system, making it more susceptible to mycobacte...

Autosomal recessive multiple pterygium syndrome (ARMP) is a rare genetic disorder characterized by multiple pterygia (webbed skin folds) on the neck, arms, legs, and other parts of the body. It is caused by mutations in the PTPN11 gene, which is r...

Autosomal recessive myogenic arthrogryposis multiplex congenita (AR-MMC) is a rare genetic disorder characterized by multiple joint contractures (stiffness) and muscle weakness that is present at birth. It is caused by mutations in genes that are ...

Autosomal recessive nail dysplasia is a rare genetic disorder that affects the nails. It is characterized by the abnormal growth and development of the nails, which can be thickened, discolored, and brittle. It is caused by mutations in the genes ...

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...