Autosomal recessive ataxia due to PEX16 deficiency

Autosomal recessive

Autosomal recessive ataxia due to PEX2 deficiency

Autosomal recessive

Adolescent, Childhood

Autosomal recessive ataxia due to ubiquinone deficiency

Autosomal recessive

Childhood

Autosomal recessive ataxia, Beauce type

Autosomal recessive

Adult, Childhood, Neonatal

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Autosomal recessive

Adolescent, Infancy

Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive

Childhood

Autosomal recessive bestrophinopathy

Autosomal recessive

All ages

Autosomal recessive centronuclear myopathy

Autosomal recessive

Childhood, Infancy, Neonatal

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

Autosomal recessive

Adolescent, Adult, Childhood

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive

Adolescent, Childhood

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

Autosomal recessive

Infancy

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency

Autosomal recessive

Childhood, Infancy

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cerebellar ataxia-movement disorder syndrome

Autosomal recessive

Adult, Childhood, Elderly, Infancy

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive

Childhood

Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cerebelloparenchymal disorder type 3

Autosomal recessive

Adolescent, Childhood, Infancy

Autosomal recessive cerebral atrophy

Autosomal recessive

Infancy, Neonatal

Autosomal recessive combined immunodeficiency due to IL6R deficiency

Autosomal recessive

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Autosomal recessive

Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency

Autosomal recessive

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Autosomal recessive

Childhood, Infancy

Autosomal recessive cutis laxa type 1

Autosomal recessive

Infancy, Neonatal