SSR4

signal sequence receptor subunit 4
OMIM: 300090
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Congenital disorder of glycosylation, type Iy 300934
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Congenital disorder of glycosylation, type Iy 300934
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
Congenital disorder of glycosylation, type Iy, 300934, CDG syndrome type Iy, SSR4-CDG