OnlineIMD
POL3A-related disease
Synonym(s)
Hypomyelinating leukodystrophy type 7
Type
Disease
External link(s)
IEMbase
Gene
POLR3A
/ RNA Polymerase III Subunit A
10q22.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
DNA-directed RNA polymerase III subunit RPC1
Disease group(s)
16.5.2 RNA polymerase III disorders
Child entries
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Odontoleukodystrophy
Tremor-ataxia-central hypomyelination syndrome