USP9X

ubiquitin specific peptidase 9, X-linked
OMIM: 300072
PanelMode of inheritanceDetails
6 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
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
Mental retardation, X-linked 99 300919 XLR, Mental retardation, X-linked 99, syndromic, female-restricted 300968
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
MENTAL RETARDATION, X-LINKED 99
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 3.5
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked 99, OMIM:300919, Mental retardation, X-linked 99, syndromic, female-restricted OMIM:300968
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
Mental retardation, X-linked 99 300919 XLR, Mental retardation, X-linked 99, syndromic, female-restricted 300968
Component of the following Super Panels:
  • - Paediatric disorders
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
Mental retardation, X-linked 99, syndromic, female-restricted, Polydactyly
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
Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968