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Brunet-Wagner neurodevelopmental syndrome

Summary

Brunet-Wagner neurodevelopmental syndrome (BRUWAG) is an autosomal recessive disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills. Affected individuals either do not achieve independent ambulation or walk with an unsteady gait; those who walk may lose the ability due to spasticity of the lower limbs. They have absent language, poor or absent social skills, and behavioral abnormalities. Most have variable ocular findings, including nystagmus, strabismus, optic atrophy, myopia, or hypermetropia (summary by Brunet et al., 2020 and Samra et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BRUWAG, P130, Rb2, RBL2
    Summary: RB transcriptional corepressor like 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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