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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:0011471 | Gastrostomy tube feeding in infancy |
| HP:0001310 | Dysmetria |
| HP:0002650 | Scoliosis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001371 | Flexion contracture |
| HP:0003828 | Variable expressivity |
| HP:0001250 | Seizure |
| HP:0011344 | Severe global developmental delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0002518 | Abnormal periventricular white matter morphology |
