OBO ID: DOID:0060795 |
Term Name: | hypomyelinating leukodystrophy 13 | Search Ontology: | |
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Definition: | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. https://www.ncbi.nlm.nih.gov/pubmed/26545878 | ||
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Ontology: | Human Disease ( DOID:0060795 ) |
OTHER hypomyelinating leukodystrophy 13 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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