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GTR Home > Conditions/Phenotypes > Gaze palsy, familial horizontal, with progressive scoliosis 1

Gaze palsy, familial horizontal, with progressive scoliosis 1

Summary

HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal (summary by Bosley et al., 2005). Genetic Heterogeneity of Familial Horizontal Gaze Palsy With Progressive Scoliosis See also HGPPS2 (617542), caused by mutation in the DCC gene (120470) on chromosome 18q21. [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: HGPPS, HGPPS1, HGPS, RBIG1, RIG1, ROBO3
    Summary: roundabout guidance receptor 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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