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

• OMIM:619310

Ontology

Human Disease   ( DOID:0070407 )