Neuropathy, congenital hypomyelinating

Disease Term Disease ID Gene Symbol Classification References Source
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
C1328349
ND4L Unknown — Disgenet
ND5 Unknown — Disgenet
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
C4721436605253
CNTNAP1 Unknown — Disgenet
EGR2 Unknown — Disgenet HPO