TMEM94

transmembrane protein 94
PanelMode of inheritanceDetails
2 panels
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with cardiac defects and dysmorphic facies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316, Global developmental delay, Intellectual disability, Abnormal heart morphology, Abnormality of head or neck