EBP

emopamil binding protein (sterol isomerase)
OMIM: 300205
PanelMode of inheritanceDetails
8 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MEND SYNDROME, MEND
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED 302960
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
MEND syndrome 300960 XLR, Chondrodysplasia punctata, X-linked dominant 302960 XLD, X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Polydactyly, Chondrodysplasia punctata, X-linked dominant 302960
R-numbers: R166
Signed-off version 1.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Conradi-Hunnermann-Happle syndrome
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
X-linked dominant chondrodysplasia punctata, CDPXLD, MEND syndrome, Chondrodysplasia punctata, X-linked dominant, 302960, MEND syndrome-300960 XLR.