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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:0011968 | Feeding difficulties |
| HP:0002191 | Progressive spasticity |
| HP:0001260 | Dysarthria |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0000750 | Delayed speech and language development |
| HP:0003487 | Babinski sign |
| HP:0001332 | Dystonia |
