Table 2.

List of non-Usher syndromes that cause hearing loss and inherited retinal disease.

Disease	Omim reference	Gene	Retinal phenotype	Systemic phenotype/s
Cone-rod dystrophy and hearing loss 1 (CRDHL1)	#617236	CEP78	Cone-rod dystrophy	Hearing loss
Cone-rod dystrophy and hearing loss 2 (CRDHL2)	#618358	CEP250	Cone-rod dystrophy	Early-onset sensorineural hearing loss
Leber congenital amaurosis with early-onset deafness (LCAEOD)	#617879	TUBB4B	Leber congenital amaurosis	Early-onset deafness
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	#612674	ABHD12	Retinitis pigmentosa	Hearing loss, polyneuropathy, ataxia
Diabetes and deafness, maternally inherited (MIDD)	#520000	MTTL1	Macular dystrophy	Adult-onset sensorineural hearing loss and diabetes, ptosis, cardiomyopathy, myopathy, renal failure, neuropsychiatric symptoms

See www.omim.org for further information.