UGO-1 like protein deficiency

Synonym(s)
- Hereditary motor and sensory neuropathy type 6B,
- pontocerebellar hypoplasia type 1E
Type

Disease
External link(s)
- IEMbase
Gene
- SLC25A46 / solute carrier family 25 member 46
  5q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial carrier protein
Disease group(s)
- 19.2 Disorders of mitochondrial and peroxisomal dynamics