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