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hypomyelinating leukodystrophy 18
Summary
- Synonym
-
- HLD18
- Definition
- A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42.
- Super Class
- autosomal recessive disease hypomyelinating leukodystrophy
External Links
- Disease Ontology
- DOID:0070399
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002510 | Spastic tetraplegia |
| HP:0001263 | Global developmental delay |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0003676 | Progressive |
| HP:0001344 | Absent speech |
| HP:0000639 | Nystagmus |
| HP:0001508 | Failure to thrive |
| HP:0005484 | Secondary microcephaly |
| HP:0001257 | Spasticity |
