Search Ontology:
Human Disease

hypomyelinating leukodystrophy 16

Term ID
DOID:0070405
Synonyms
  • 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. https://pubmed.ncbi.nlm.nih.gov/29186371/
References
Ontology
Human Disease   ( DOID:0070405 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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