Hypomyelinating leukodystrophy

Disease Term Disease ID Gene Symbol References
LEUKODYSTROPHY, HYPOMYELINATING, 15 C4693733 EPRS1 29576217
Pelizaeus-Merzbacher Disease, Atypical C0751915 LMNB1
PLP1 18571143
Pelizaeus-Merzbacher Disease, Transitional C0751917 LMNB1
PLP1 18571143
LEUKODYSTROPHY, HYPOMYELINATING, 17 C4693912 AIMP2 29215095, 26795593
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 C1850053 AIMP1 26173967, 26257172, 21092922, 30486714
LEUKODYSTROPHY, HYPOMYELINATING, 14 C4693535 UFM1 30914295, 29868776, 28931644
LEUKODYSTROPHY, HYPOMYELINATING, 16 C4693779 TMEM106B 29186371, 29444210
VPS11-related autosomal recessive hypomyelinating leukodystrophy 466934 VPS11
RARS-related autosomal recessive hypomyelinating leukodystrophy 438114 RARS1
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy 495844 HIKESHI
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 527497 NKX6-2