Term Name:	Halperin-Birk syndrome
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.
Ontology:	Human Disease [DOID:0070539]   ( DOID:0070539 )