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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
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001344 | Absent speech |
| HP:0012368 | Flat face |
| HP:0002188 | Delayed CNS myelination |
| HP:0000666 | Horizontal nystagmus |
| HP:0004233 | Advanced ossification of carpal bones |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002415 | Leukodystrophy |
| HP:0004322 | Short stature |
| HP:0001181 | Adducted thumb |
| HP:0008936 | Axial hypotonia |
