Disorder	Type	Pattern of Inheritance	Genes	Age of Onset	Relative Frequency	Prevale nce	Test Availab le?	Patent Holder (Patent Number)
Pendred's Syndrome	Syndromic	AR	SLC26A4	Prelingual	4–10%		SLC26A4
Type 4 Barter'st Syndrome	Syndromic	AR or digenic	BSND, CLCNKA, CLCNKB		con-sanguineous Middle Easterners
Branchio-oto-renal (BOR) Syndrome	Syndromic	AD	EYA1, SIX1		1 in 40,000		EYA1, SIX1
Alport Syndrome	Syndromic	AD	MYH9, COL4A5, COL4A3, COL4A4		Rare		MYH9, COL4A5, COL4A3, COL4A4
Fechtner's Syndrome	Syndromic	AD	MYH9		Rare
Sebastian Syndrome	Syndromic	AD	MYH9		Rare
(DFNA22)	Syndromic	AD	MYO6	Postlingual	Rare
Renal Tubular Acidosis	Syndromic	AR, consanguinity	ATP6B1, ATP6N1B		con-sanguineous North Africans
Waardenburg's Syndrome	Syndromic	AD or AR	PAX3, MITF, SOX10, EDN3, EDNRB		1–4%
Wolfram Syndrome	Syndromic	AD	WFS1	Prelingual			WFS1	Washington University School of Medicine (WOO18787A1)
Meniere's Disease	Syndromic	AD	COCH	Postlingual			COCH5B2	Brigham and Women's Hospital (7030235), Brigham and Women's Hospital & U-Antwerp (6730475)
Cockayne Syndrome Type A	Syndromic		ERCC8	Prelingual			ERCC8
Cockayne Syndrome Type B	Syndromic		ERCC6	Prelingual			ERCC6
Diabetes-Deafness Syndrome	Syndromic		MTND5, MTTL1				MTTL1
Charcot-Marie Tooth Neuropathy Type 1A	Syndromic	AD	PMP22				PMP22
Charcot-Marie Tooth Neuropathy Type 1B	Syndromic	AD	MPZ				MPZ
Charcot-Marie Tooth Neuropathy Type 1C	Syndromic	AD	LITAF				LITAF
Charcot-Marie Tooth Neuropathy Type 1D	Syndromic	AD	EGR2				EGR2
Charcot-Marie Tooth Neuropathy Type 1E	Syndromic	AD	PMP22				PMP22	Athena (5691144), Athena (6001576)
Charcot-Marie Tooth Neuropathy Type 1F/2E	Syndromic	AD	NEFL				NEFL
Isolated Renal Hypomagnesemia	Syndromic		CLDN16,				CLDN16,
Urticaria-Deafness-Amyloidosis (UDA) Syndrome	Syndromic		CIAS1, NLRP3				CIAS1, NLRP3
Long QT Syndromes and Deafness	Syndromic		KVLQT1, SCN5A				KVLQT1, SCN5A	U-Utah Research Foundation (20020061524A1), U-Utah Research Foundation and Genzyme, Inc (6582913), U-Utah Research Foundation (6787309)
Jervell and Lange Nielsen (JLN) Syndrome	Syndromic	AR	KLVQT1, KCNQ1 (JLN1), KCNE1 (JLN2)	Prelingual	Rare		KLVQT1, KCNQ1 (JLN1), KCNE1 (JLN2)	U-Utah Research Foundation (6150104)
Stickler Syndrome	Syndromic	AD	COL11A2, COL2A1, COL11A1, COL9A1				COL11A1, COL11A2, COL2A1, COL9A1
Epstein Syndrome	Syndromic	AD	MYH9				MYH9
Norrie Disease	Syndromic		NDP				NDP
Treacher Collins Syndrome	Syndromic		TCOF1				TCOF1
Usher Syndrome Type I (USH1)	Syndromic	AR	MY07A,O USH1C, CDH23, PCDH15, SANS	Prelingual	all Usher combined 3–6% of child deafness	all Usher combined 4.4/100,000	MY07A, PCDH15
Usher Syndrome Type II (USH2)	Syndromic	AR	USH2A, VLGR1, WHRN	Prelingual	all Usher combined 3–6% of child deafness	all Usher combined 4.4/100,001	USH2A
Usher Syndrome Type III (USH3)	Syndromic	AR	USH3	Postlingual	all Usher combined 3–6% of child deafness	all Usher combined 4.4/100,002	USH3A (CLRN1)
Kearns-Sayre Syndrome	Syndromic	Mitochondrial					mtDNA deletion syndromes
Pearson Syndrome	Syndromic	Mitochondrial					mtDNA deletion syndromes
Progressive External Ophthalmoplegia	Syndromic	Mitochondrial					mtDNA deletion syndromes
Leigh Syndrome	Syndromic	Mitochondrial	MTATP6, MTTL1, MTTK, MTND1, MTND3, MTND4, MTND5, MTND6, MTCO3, MTTW, and MTTV				MT-ATP6, MT-CO3, MT-ND1, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TL1, MT-TV, MT-TW
NARP	Syndromic	Mitochondrial	MTATP6				MT-ATP6
MELAS	Syndromic	Mitochondrial	MTTL1, MTND5, MT-TC, MT-TV, MT-TF, and MT-TS1				MTTL1, MTND5
MERRF	Syndromic	Mitochondrial	MTTK				MTTK
Vohwinkel Syndrome	Syndromic		GJB2 (Cx 26)		GJB2 >50%		GJB2 (Cx 26)	Institut Pasteur (5998147, 6485908)
Deafness-Dystonia Syndrome (DDON)	Syndromic	XL	TIMM8A	Varies
Hypoparathyroidism, Sensorineural Deafness, and Renal (HDR) Disease	Syndromic		GATA3				GATA3
Ichthyosis, Hystrix-like, with Deafness	Syndromic		GJB2 (Cx 26)				GJB2 (Cx 26)	Institut Pasteur (5998147, 6485908)