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...

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome (ARSOD) is a rare genetic disorder characterized by progressive spasticity, ataxia, optic atrophy, and dysarthria. It is caused by mutations in the SLC25A12 gene, which is respon...

Autosomal recessive spastic paraplegia type 11 (SPG11) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG11 gene, which is responsibl...

Autosomal recessive spastic paraplegia type 14 (SPG14) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG14 gene, which is responsibl...

Autosomal recessive spastic paraplegia type 15 (SPG15) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG15 gene, which is responsibl...

Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG18 gene, which is located on...

Autosomal recessive spastic paraplegia type 20 (SPG20) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness and difficulty with movement) of the lower limbs. It is caused by mutations in the SPG20 gene, whi...

Autosomal recessive spastic paraplegia type 21 (SPG21) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG21 gene, which is located on...

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved i...

Autosomal recessive spastic paraplegia type 24 (SPG24) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG24 gene, which is involved i...