Phenotypes associated with the disease peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain (OMIM:260970):
- Polyneuropathy (HP:0001271): A generalized disorder of peripheral nerves. Evidence: IEA. (OMIM:260970)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: IEA. (OMIM:260970)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:260970)
- Chronic axonal neuropathy (HP:0007267): An abnormality characterized by chronic impairment of the normal functioning of the axons. Evidence: TAS. (OMIM:260970)
- Cerebral degeneration (HP:0007313). Evidence: TAS. (OMIM:260970)
- Necrotizing encephalopathy (HP:0006976): A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue. Evidence: IEA. (OMIM:260970)