SLC26A4

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
Phenotypes
Pendred syndrome, 274600 (congenital deafness and thyroid goitre), Sensorineural deafness, enlarged vestibular aqueduct, Mondini defect, partial iodide organification defect, goitre, mild hypothyroidism
R-numbers: R67
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonsyndromic Hearing Loss, Recessive, Pendred syndrome, 274600, hearing loss, Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791, enlarged vestibular aqueducts