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Human Disease

Halperin-Birk syndrome

Term ID
DOID:0070539
Synonyms
  • 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. https://pubmed.ncbi.nlm.nih.gov/30464055/
References
Ontology
Human Disease   ( DOID:0070539 )
Relationships
is a type of
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Genes Involved
Zebrafish Models