| children | - 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 711409002
- Albinism with deafness syndrome 722285005
- Albinism-deafness syndrome of Tietz 403805009
- Bartter syndrome type 4 700112007
- Black locks, oculocutaneous albinism, AND deafness of the sensorineural type 10170007
- Bosley Salih Alorainy syndrome 720567008
- Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome 763136000
- Chitty Hall Baraitser syndrome 716238003
- Congenital cataract with deafness and hypogonadism syndrome 722378009
- Congenital cataract, hearing loss, severe developmental delay syndrome 773648002
- Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005
- Congenital cochleovestibular malformation 1234911006
- Congenital mixed conductive and sensorineural hearing loss 737377004
- Craniofacial deafness hand syndrome 702362004
- Deafness and intellectual disability Martin Probst type syndrome 721087008
- Deafness and oligodontia syndrome 715527006
- Deafness with onychodystrophy syndrome 773735007
- Deafness, small bowel diverticulosis, neuropathy syndrome 733071009
- Epiphyseal dysplasia, hearing loss, dysmorphism syndrome 766870005
- Fountain syndrome 720957007
- Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance 93466004
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome 773665006
- Jervell and Lange-Nielsen syndrome 373905003
- Keipert syndrome 763774001
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome 1271009
- Lowry Yong syndrome 716007007
- Mandibular hypoplasia, deafness, progeroid syndrome 773406003
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 237617006
- Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome 1254651003
- Mondini defect 232302007
- Mutilating keratoderma 24559001
- Myoclonus, cerebellar ataxia, deafness syndrome 733065003
- Oculootodental syndrome 770944002
- PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002
- Pendred's syndrome 70348004
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002
- Pili torti-deafness syndrome 67817003
- Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness 236529001
- Renal caliceal diverticuli and deafness syndrome 782942003
- Retinitis pigmentosa-deafness syndrome 57838006
- Rubella deafness 186570004
- Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome 770751003
- Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome 1284851009
- Spastic paraplegia, nephritis, deafness syndrome 733089005
- Split-foot malformation, mesoaxial polydactyly syndrome 1172635005
- Stickler syndrome type 3 783097004
- Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 1260133007
- Temtamy preaxial brachydactyly syndrome 777998000
- Waardenburg Shah syndrome 715952000
- Waardenburg syndrome type 3 237918004
- Wildervanck's syndrome 79665007
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