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Halperin-Birk syndrome
Summary
- Synonym
-
- HLBKS
- NEDSOSB
- NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
- Definition
- A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0070539
- Mondo Disease Ontology
- OMIM
Related Genes
