Search Ontology:
Human Disease

hypomyelinating leukodystrophy 11

Term ID
DOID:0060792
Synonyms
  • HLD11
Definition
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/26151409
References
Ontology
Human Disease   ( DOID:0060792 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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