DDHD2 deficiency

Synonym(s)
- Autosomal recessive spastic paraplegia type 54
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- DDHD2 / DDHD2
  8p11.23
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphatidic acid phosphatase type 2 domain-containing protein
Disease group(s)
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism