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Human Disease

hypomyelinating leukodystrophy 21

Term ID
DOID:0070407
Synonyms
  • HLD21
Definition
A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13. https://pubmed.ncbi.nlm.nih.gov/30584594/
References
Ontology
Human Disease   ( DOID:0070407 )
Relationships
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Genes Involved
Zebrafish Models