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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 44

Hereditary spastic paraplegia 44

Synonyms
Spastic Paraplegia 44; Spastic paraplegia 44, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A very rare, complex form of hereditary spastic paraplegia characterised by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leucodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. Caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. [from SNOMEDCT_US]

Available tests

29 tests are in the database for this condition.

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Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CX46.6, Cx47, GJA12, HLD2, LMPH1C, LMPHM3, PMLDAR, SPG44, GJC2
    Summary: gap junction protein gamma 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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