Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect is a rare inherited disorder caused by mutations in the ATP7A gene. This gene is responsible for the production of a protein that helps regulate copper levels i...

Autosomal recessive axonal neuropathy with neuromyotonia is a rare genetic disorder characterized by progressive muscle weakness and stiffness (neuromyotonia) and nerve damage (axonal neuropathy). It is caused by mutations in the SLC6A8 gene, whic...

Autosomal recessive bestrophinopathy is a rare genetic disorder that affects the eyes and kidneys. It is caused by mutations in the BEST1 gene, which is responsible for producing a protein called bestrophin. This protein is important for maintaini...

Autosomal recessive brachyolmia is a rare genetic disorder that affects the bones and muscles. It is caused by mutations in the RMRP gene, which is responsible for the production of a protein that helps to maintain the structure of the skeleton. S...

Autosomal recessive centronuclear myopathy (AR-CNM) is a rare, inherited neuromuscular disorder characterized by muscle weakness and wasting (atrophy) that begins in infancy or early childhood. It is caused by mutations in the DNM2 gene, which is ...

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency is a rare genetic disorder caused by mutations in the CWF19L1 gene. It is characterized by progressive difficulty with balance and coordination, as well as other neurological symptoms...

Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare genetic disorder caused by mutations in the STUB1 gene. It is characterized by progressive ataxia (lack of coordination) of the limbs and trunk, as well as intellectual disabi...

Autosomal recessive cerebellar ataxia with late-onset spasticity (ARCA-S) is a rare, inherited neurological disorder characterized by progressive ataxia (lack of muscle coordination) and spasticity (stiffness and jerky movements) that usually begi...

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency is a rare genetic disorder caused by mutations in the RUBCN gene. It is characterized by progressive cerebellar ataxia (lack of coordination), ...

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare genetic disorder caused by mutations in the TUD gene. It is characterized by progressive ataxia (lack of muscle coordination), epilepsy...

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare genetic disorder caused by mutations in the WWOX gene. It is characterized by a combination of cerebellar ataxia (a lack of coordinati...

Autosomal recessive cerebellar ataxia-movement disorder syndrome is a rare genetic disorder that affects the cerebellum, a part of the brain that controls movement. It is characterized by progressive difficulty with coordination, balance, and spee...

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome (ARCPD) is a rare genetic disorder characterized by progressive ataxia (loss of coordination) and psychomotor delay (slowed development). It is caused by mutations in the SLC25A12 ge...

Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (ARCA-PNS-NAO) is a rare, inherited neurological disorder characterized by progressive ataxia (lack of muscle coordination), pyramidal signs (abnormal refl...

Autosomal recessive cerebral atrophy (ARCA) is a rare genetic disorder that affects the brain and spinal cord. It is characterized by progressive degeneration of the brain and spinal cord, leading to physical and mental disability. Symptoms may in...

Autosomal recessive Charcot-Marie-Tooth disease type 2X (AR-CMT2X) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as ...

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness is a rare genetic disorder that affects the peripheral nerves. It is caused by mutations in the GJB1 gene, which is responsible for the production of a protein called connexin 32. Peo...