Halperin-Birk Syndrome
Disease ID: disease_node_20319
Connections displayed (default: 10).
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| Dbxref | MIM:618651 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLBKS, NEDSOSB, NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES |
| Doid Label | Halperin-Birk syndrome |
| Doid Description | 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. Tentative disease: two patients in one family have been identified to date [JAB, 2024-03-18]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20319 |
| Doid Id | DOID_0070539 |
| Label | Halperin-Birk Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)