PHF6

PHD finger protein 6
OMIM: 300414
PanelMode of inheritanceDetails
4 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
BOERJESON-FORSSMAN-LEHMANN SYNDROME 301900
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
BOERJESON-FORSSMAN-LEHMANN SYNDROME
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
Borjeson-Forssman-Lehmann syndrome, 301900, BOERJESON-FORSSMAN-LEHMANN SYNDROME (BFLS)
R-numbers: R149
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Obesity, Borjeson-Forssman-Lehmann syndrome, 301900, Borjeson-Forssman-Lehmann syndrome