SLC5A6

solute carrier family 5 member 6
OMIM: 604024
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SLC5A6-related Neurodevelopmental Disorder
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
Feeding difficulties, Failure to thrive, Global developmental delay, Developmental regression, Intellectual disability, Seizures, Microcephaly, Cerebral atrophy, Abnormality of the corpus callosum, Vomiting, Chronic diarrhea, Gastrointestinal hemorrhage, Abnormal immunoglobulin level, Osteopenia, Abnormality of metabolism/homeostasis