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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:0001382 | Joint hypermobility |
| HP:0000175 | Cleft palate |
| HP:0003026 | Short long bone |
| HP:0011968 | Feeding difficulties |
| HP:0002650 | Scoliosis |
| HP:0001272 | Cerebellar atrophy |
| HP:0004976 | Knee dislocation |
| HP:0000278 | Retrognathia |
| HP:0003593 | Infantile onset |
| HP:0002079 | Hypoplasia of the corpus callosum |
