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GTR Home > Conditions/Phenotypes > Progressive bulbar palsy of childhood

Progressive bulbar palsy of childhood

Synonyms
Bulbar HMN II; Bulbar hereditary motor neuronopathy (HMN) type II; Childhood Progressive Bulbar Palsy; Fazio Londe syndrome; Fazio-Londe disease; Progressive bulbar paralysis of childhood

Summary

Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011). [from OMIM]

Available tests

30 tests are in the database for this condition.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2, SLC52A3
    Summary: solute carrier family 52 member 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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