DDHD1 deficiency

Synonym(s)
- Autosomal recessive spastic paraplegia type 28
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- DDHD1 / DDHD Domain Containing 1
  14q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- DDHD domain-containing protein 1
Disease group(s)
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism