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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies

Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies

Summary

Halperin-Birk syndrome (HLBKS) is an autosomal recessive neurodevelopmental disorder characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy. Death occurs in early childhood (Halperin et al., 2019). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABP125, ABP130, HPBKS, HSPC275, HSPC334, NEDSOSB, SEC31L1, SEC31A
    Summary: SEC31 homolog A, COPII coat complex component

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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