SNIP1

Smad nuclear interacting protein 1
OMIM: 608241
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501, psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013787