Search Ontology:
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 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models