FGD1

FYVE, RhoGEF and PH domain containing 1
OMIM: 300546
PanelMode of inheritanceDetails
5 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
AARSKOG-SCOTT SYNDROME, AAS
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
AARSKOG-SCOTT SYNDROME 305400
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
AARSKOG-SCOTT 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
Aarskog-Scott syndrome, 305400Mental retardation, X-linked syndromic 16, 305400, AARSKOG-SCOTT SYNDROME (AAS)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Aarskog-Scott syndrome 305400