Disease #00108 (PDS (Pendred syndrome), OMIM:274600)

Official abbreviation PDS
Name Pendred syndrome
OMIM ID 274600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 4 genes DUOX2, GJB2, SCARB2, SLC26A4
Associated tissues ears
Disease features -
Remarks -


Individuals

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00000573 Yock-Ping Chow et al.(2017) F Malaysia - - Sister #1 - PDS diffused multinodular goiter, bilateral profound sensorineural hearing loss>60 dB, cochlear hypoplasia DUOX2, GJB2, SCARB2, SLC26A4 DUOX2, GJB2, SCARB2, SLC26A4 5 1 Nur Aisyah Athirah
00000574 Yock-Ping Chow et al.(2017) F Malaysia - - Sister #2 - PDS profound hearing loss at 10 months of age associated with delayed speech development, has large, diffused multinodular goiter, bilateral profound sensorineural hearing loss>60 dB DUOX2, GJB2, SCARB2, SLC26A4 DUOX2, GJB2, SCARB2, SLC26A4 5 1 Nur Aisyah Athirah
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