Autosomal recessive palmoplantar keratoderma and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and...

Autosomal recessive Parkinson disease 14 is an uncommon neurodegenerative movement disorder that primarily affects the brain’s motor pathways. It is c...

Autosomal recessive pericentral pigmentary retinopathy is characterized by the inheritance pattern of autosomal recessive, which means that both copie...

Autosomal recessive polycystic kidney disease is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity is a condition affecting the immune system, p...

Autosomal recessive primary microcephaly is a disorder of early brain development characterized by a head circumference that is significantly smaller...

autosomal recessive progressive external ophthalmoplegia is an extremely rare condition. Because few cases have been documented, detailed clinical inf...

Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a multisystem condition that primarily affects how the kidneys handle bicarbonate, an...

Autosomal recessive Robinow syndrome is a skeletal dysplasia that affects bone growth, facial development, and the external genitalia. It is caused by...

Autosomal recessive secondary polycythemia not associated with VHL gene is a rare condition that has been described under several names, including aut...

Autosomal recessive severe congenital neutropenia is a condition that primarily affects the immune system by reducing the number of neutrophils, the w...

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is caused by variants in the CSF3R gene. This condition is characterized by...

autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is an extremely rare condition. Because few cases have been documented, deta...

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a disorder primarily affecting blood cell production and multiple organ s...

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is characterized by a deficiency of neutrophils, which are crucial for fight...

Autosomal recessive sideroblastic anemia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limi...

Autosomal recessive spastic ataxia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Autosomal recessive spastic paraplegia type 59 (SPG59) is a rare neurological disorder characterized by spastic paraplegia, which affects the ability...

Currently, there is no established genetic basis or inheritance pattern for autosomal recessive spastic paraplegia type 60 (SPG60). The condition is c...

Autosomal recessive spastic paraplegia type 66 (SPG66) is a rare neurological condition characterized by a range of clinical features, although a spec...