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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 18

Hereditary spastic paraplegia 18

Synonyms
INTELLECTUAL DISABILITY, MOTOR DYSFUNCTION, AND JOINT CONTRACTURES; SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPASTIC PARAPLEGIA 18B, AUTOSOMAL RECESSIVE; Spastic paraplegia 18
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spastic paraplegia-18B (SPG18B) is a severe autosomal recessive neurologic disorder characterized by onset in early childhood of progressive spastic paraplegia resulting in motor disability. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures (summary by Alazami et al., 2011 and Yildirim et al., 2011). [from OMIM]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C8orf2, Erlin-2, NET32, SPFH2, SPG18, SPG18A, SPG18B, ERLIN2
    Summary: ER lipid raft associated 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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