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hypomyelinating leukodystrophy 26
Summary
- Synonym
-
- HLD26
- Definition
- A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21.
- Super Class
- autosomal recessive disease hypomyelinating leukodystrophy
External Links
- Disease Ontology
- DOID:0070403
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002451 | Limb dystonia |
| HP:0001263 | Global developmental delay |
| HP:0004626 | Lumbar scoliosis |
| HP:0000201 | Pierre-Robin sequence |
| HP:0003042 | Elbow dislocation |
| HP:0010585 | Small epiphyses |
| HP:0002059 | Cerebral atrophy |
| HP:0000162 | Glossoptosis |
| HP:0002673 | Coxa valga |
| HP:0008434 | Hypoplastic cervical vertebrae |
