Search Ontology:
Human Disease

hypomyelinating leukodystrophy 14

Term ID
DOID:0080296
Synonyms
Definition
A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. https://pubmed.ncbi.nlm.nih.gov/28931644/
References
Ontology
Human Disease   ( DOID:0080296 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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