Cholestenol delta-isomerase deficiency

Type

Disease
Gene
- EBP / Emopamil Binding Protein
  Xp11.23
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Emopamil binding protein
Disease group(s)
- 14.7.1 Disorders of sterol biosynthesis
Child entries
- X-linked chondrodysplasia punctata type 2
- Male EBP disorder with Neurologic Defects