ARX

aristaless related homeobox
OMIM: 300382
PanelMode of inheritanceDetails
6 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
MENTAL RETARDATION X-LINKED ARX-RELATED 300419, AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004, LISSENCEPHALY X-LINKED TYPE 2 300215, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350, PARTINGTON SYNDROME 309510
R-numbers: R146
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004, ARX-related Disorders, Lissencephaly, X-linked 2 300215
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
PARTINGTON SYNDROME, MENTAL RETARDATION X-LINKED ARX-RELATED, LISSENCEPHALY X-LINKED TYPE 2, AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Epileptic encephalopathy, early infantile, 1 308350, Hydranencephaly with abnormal genitalia 300215, Lissencephaly, X-linked 2 300215, Mental retardation, X-linked 29 and others 300419, Partington syndrome 309510, Proud syndrome 300004
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
Epileptic encephalopathy, early infantile, 1, 308350Lissencephaly, X-linked 2, 300215Mental retardation, X-linked 29 and others, 300419Proud syndrome, 300004Partington syndrome, 309510Hydranencephaly with abnormal genitalia, 300215, MENTAL RETARDATION X-LINKED ARX-RELATED (MRXARX)
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Lissencephaly, X-Linked, 2 300215, Epileptic encephalopathy, early infantile, 1 308350, Hydranencephaly with abnormal genitalia 300215, Mental retardation, X-linked 29 and others 300419, Partington syndrome 309510, Proud syndrome 300004