hypomyelinating leukodystrophy 17

Term ID

DOID:0070404

Synonyms

• HLD17

Definition

A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. (2)

References

• OMIM:618006

Ontology

Human Disease   ( DOID:0070404 )