PHF6

PHD finger protein 6
OMIM: 300414
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
BOERJESON-FORSSMAN-LEHMANN SYNDROME 301900
R-numbers: R21, R412
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Borjeson-Forssman-Lehmann syndrome, OMIM:301900
R-numbers: R236
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Borjeson-Forssman-Lehmann syndrome, OMIM:301900, Fine and whorled Blaschko-linear hypo or hyperpigmentation
R-numbers: R149
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Borjeson-Forssman-Lehmann syndrome, OMIM:301900