| Metadata | |
|---|---|
| ID | DOID:0070539 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/30464055/ |
| Xrefs | |
| Synonyms |
HLBKS [EXACT] NEDSOSB [EXACT] NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES [EXACT] |
| Parent Relationships |
is_a syndrome |