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
Displaying 1 entry
Gene ID Gene Symbol Description Source
347734 SLC35B2 solute carrier family 35 member B2
Displaying 1 entry
Gene ID Gene Symbol Description Source
42115 sll slalom
The Human Phenotype Ontology
Displaying entries 1 - 10 of 30 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
347734 SLC35B2 solute carrier family 35 member B2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024