| children | - Albinism with deafness syndrome 722285005
- Alstrom syndrome 63702009
- Auditory neuropathy, optic atrophy syndrome 1222649004
- Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome 1229999001
- Autosomal dominant spastic paraplegia type 29 733029008
- Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome 1204415006
- Beta-D-mannosidosis 238047006
- Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005
- Congenital cochleovestibular malformation 1234911006
- Congenital conductive hearing loss 737344003
- Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004
- Deafness with onychodystrophy syndrome 773735007
- Deafness, enamel hypoplasia, nail defect syndrome 721085000
- Duane retraction syndrome with congenital deafness 1230014007
- Hearing difficulty 162340000
- Hearing for conversational voice impaired 300223008
- Hearing for loud voice impaired 300225001
- Hearing for voice impaired 300227009
- Hearing loss remits during vertigo attacks 103303007 removed: 2022-05-31
- Hennekam Beemer syndrome 722453009
- Infantile multisystem neurologic, endocrine, pancreatic disease 1260450002
- Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome 1255271005
- KID syndrome 239059004
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 237617006
- Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome 1254651003
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007
- Non-syndromic genetic hearing loss 1260199008
- Ocular albinism with congenital sensorineural deafness 773575001 removed: 2022-10-31
- Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009
- Otodental syndrome 1237343009
- PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002
- Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome 1237413006
- Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome 1284851009
- Spastic paraplegia, nephritis, deafness syndrome 733089005
- Stickler syndrome type 3 783097004
- Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 1260133007
- Unable to hear conversational voice 306971007
- Unable to hear loud voice 306972000
- Unable to hear whisper 306970008
- Waardenburg's syndrome 47434006
- Wolfram syndrome 70694009
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