DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for hypomyelinating leukodystrophy

Hypomyelinating leukodystrophy [DOID:0060786]

A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging.

Synonyms:  hypomyelinating leukodystrophy,  DOID:0060786,  hypomyelinating leukodystrophies,  HLD