Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Chondrodysplasia punctata, X-linked recessive 302950 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | 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 |
Green in Palmoplantar keratodermasR-numbers: R166 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Chondrodysplasia punctata |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE, CDPX1, Chondrodysplasia punctata |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | 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 |