KIF5A deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- KIF5A / Kinesin Family Member 5A
  12q13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Kinesin heavy chain isoform 5A
Disease group(s)
- 23.6 Disorders of the synaptic vesicle cycle
Child entries
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
- Autosomal dominant spastic paraplegia type 10