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GTR Home > Conditions/Phenotypes > Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development

Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development

Summary

Autosomal recessive peripheral neuropathy with or without impaired intellectual development is an early childhood-onset neurologic disorder characterized by slowly progressive distal motor impairment resulting in gait difficulties, often with loss of ambulation, and difficulties using the hands in most patients. Most affected individuals also have impaired intellectual development, although some have normal cognition. Electrophysiologic testing and sural nerve biopsy are most compatible with an axonal motor neuropathy; some patients may show signs of demyelination. Additional features may include eye movement abnormalities, claw hands, foot deformities, and scoliosis (summary by Ylikallio et al., 2017). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GANP, MAP80, PNRIID, SAC3, MCM3AP
    Summary: minichromosome maintenance complex component 3 associated protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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