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 due to a DNA repair defect

Autosomal recessive

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive

Adolescent, Childhood

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome

Autosomal recessive

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 chorioretinopathy-microcephaly syndrome

Autosomal recessive

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

Autosomal recessive

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Autosomal recessive

Childhood, Infancy

Autosomal recessive congenital cerebellar ataxia

Autosomal recessive

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Autosomal recessive

Infancy, Neonatal

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Autosomal recessive

Infancy, Neonatal

Autosomal recessive congenital ichthyosis

Autosomal recessive

Infancy, Neonatal

Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

Autosomal recessive