hypomyelinating leukodystrophy 16

Term ID

DOID:0070405

Synonyms

• HLD16

Definition

A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. https://pubmed.ncbi.nlm.nih.gov/29186371/

References

• OMIM:617964

Ontology

Human Disease   ( DOID:0070405 )