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P153-EYA1
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Branchio-oto-renal dysplasia syndrome (BOR)
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EYA1 8q13.3.
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P163-GJB-WFS1
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Hearing loss
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GJB3 1p34.3 (connexin 31), WFS1 4p16.1 (Wolframin)
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P186-PAX3-MITF-SOX10
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Waardenburg syndrome type 1 (WS1), 2A (WS2A), 2E (WS2E), 3 (WS3), 4C (WS4C)
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PAX3 2q36.1; MITF 3p14.1; SOX10 22q13.1
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P191-Alport-mix1
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Alport syndrome, X-linked
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COL4A5 Xq22.3
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P192-Alport-mix2
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Alport syndrome, X-linked
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COL4A5 Xq22.3
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P234-GATA3 - GATA4
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Ventricular septal defect-1 (VSD1); Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome
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GATA4 8p23.1; GATA3 10p14
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P280-SLC26A4
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Pendred syndrome
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SLC26A4 7q22.3
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P292-PCDH15
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Usher syndrome type 1F (USH1F)
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PCDH15 10q21.1
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P310-TCOF1
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Treacher Collins-Franceschetti syndrome
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TCOF1 5q32-q33.1
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P361-USH2A mix 1
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Usher syndrome type II (USH2)
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USH2A 1q41
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P362-USH2A mix 2
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Usher syndrome type II (USH2)
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USH2A 1q41
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P381-COL11A1 mix 1
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Marshall syndrome; Stickler syndrome type II
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COL11A1 1p21.1
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P382-COL11A1 mix 2
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Marshall syndrome; Stickler syndrome type II
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COL11A1 1p21.1
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P439-COL4A3
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Alport syndrome
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2q36.3
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P444-COL4A4
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Alport syndrome
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2q36.3
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P461-DIS
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Deafness Infertility Syndrome (DIS); Deafness 16, autosomal recessive (DFNB16); Deafness 22, autosomal recessive (DFNB22)
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STRC 15q15.3; CATSPER2 15q15.3; OTOA 16p12.2
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