ARSE

arylsulfatase E (chondrodysplasia punctata 1)
OMIM: 300180
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CHONDRODYSPLASIA PUNCTATA 1, 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, biallelic mutations in females
Phenotypes
Chondrodysplasia punctata, X-linked recessive 302950
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, biallelic mutations in females
Phenotypes
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CDPXL, Chondrodysplasia punctata, X-linked recessive, 302950, X-linked recessive chondrodysplasia punctata, CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
R-numbers: R166
Signed-off version 1.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Chondrodysplasia punctata
R-numbers: R236
Signed-off version 1.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE, CDPX1, Chondrodysplasia punctata
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CDPXL, Chondrodysplasia punctata, X-linked recessive, 302950, CHONDRODYSPLASIA PUNCTATA 1, X-LINKED, X-linked recessive chondrodysplasia punctata