Lysophosphatidylcholine-esterified long-chain fatty acid transporter deficiency

Synonym(s)
- Autosomal recessive primary microcephaly type 15
Type

Disease
External link(s)
- IEMbase
Gene
- MFSD2A / Major Facilitator Superfamily Domain Containing 2A
  1p34.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Major facilitator superfamily domain-containing protein 2A
Disease group(s)
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism