solute carrier family 26 member 4
OMIM: 605646
PanelMode of inheritanceDetails
2 panels
R-numbers: R145
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Pendred syndrome, 274600 (congenital deafness and thyroid goitre), Sensorineural deafness, enlarged vestibular aqueduct, Mondini defect, partial iodide organification defect, goitre, mild hypothyroidism
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.39
BIALLELIC, autosomal or pseudoautosomal
Nonsyndromic Hearing Loss, Recessive, Pendred syndrome, 274600, hearing loss, Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791, enlarged vestibular aqueducts