OBO ID: DOID:0060798 |
Term Name: | hypomyelinating leukodystrophy 6 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/23582646 | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0060798 ) |
OTHER hypomyelinating leukodystrophy 6 PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
TUBB4A | Leukodystrophy, hypomyelinating, 6 |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.