hypomyelinating leukodystrophy 14

Term ID

DOID:0080296

Synonyms

Definition

A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. https://pubmed.ncbi.nlm.nih.gov/28931644/

References

• OMIM:617899

Ontology

Human Disease   ( DOID:0080296 )