EIF2S3

eukaryotic translation initiation factor 2 subunit gamma
OMIM: 300161
PanelMode of inheritanceDetails
4 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
MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE, MRXSBRK
R-numbers: R143
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
diabetes, intellectual disability, microcephaly, epilepsy, hypogonadism, hypogenitalism, central obesity, MEHMO syndrome (X-linked NDM and microcephaly),300148
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MEHMO syndrome, 300148
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked, syndromic, Borck type, 300987