SMS

spermine synthase
OMIM: 300105
PanelMode of inheritanceDetails
3 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, SNYDER-ROBINSON TYPE, MRXSSR
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, Snyder-Robinson type 309583
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
Mental retardation, X-linked, Snyder-Robinson type, 309583, SNYDER-ROBINSON SYNDROME (SRS)