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

• OMIM:618651

Ontology

Human Disease   ( DOID:0070539 )