hypomyelinating leukodystrophy 25

Term ID

DOID:0070401

Synonyms

• HLD25

Definition

A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21. (2)

References

• OMIM:620243

Ontology

Human Disease   ( DOID:0070401 )