Version: 8.0.0
Date: Tue Jan 28 2025
Halperin-Birk syndrome
DOID:0070539
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Halperin-Birk syndrome

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.
Synonyms
  • HLBKS
  • NEDSOSB
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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