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GTR Home > Conditions/Phenotypes > Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Synonyms
Poretti-Boltshauser syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. Affected individuals have delayed motor development and often have speech delay. Cognitive function can range from normal to intellectually disabled (summary by Aldinger et al., 2014). [from OMIM]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LAMA, PTBHS, S-LAM-alpha, LAMA1
    Summary: laminin subunit alpha 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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