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Standards Ontologies Notations
hypomyelinating leukodystrophy 16

Summary
Synonym
  • HLD16
Definition
A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21.
Super Class
autosomal dominant disease hypomyelinating leukodystrophy
Disease Ontology
DOID:0070405
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54664 TMEM106B transmembrane protein 106B
Displaying 1 entry
Gene ID Gene Symbol Description Source
71900 Tmem106b transmembrane protein 106B
Displaying 1 entry
Gene ID Gene Symbol Description Source
312132 Tmem106b transmembrane protein 106B
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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: December 9, 2024