| children | - Abruzzo Erickson syndrome 718574003
- Ataxia with deafness and intellectual disability syndrome 720517001
- Athabaskan brainstem dysgenesis syndrome 720518006
- Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome 720519003
- Auditory neuropathy, optic atrophy syndrome 1222649004
- Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome 1229999001
- Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome 1204415006
- Black locks, oculocutaneous albinism, AND deafness of the sensorineural type 10170007
- Bosley Salih Alorainy syndrome 720567008
- Branchiootic syndrome 764810000
- Camptodactyly and tall stature with scoliosis and hearing loss syndrome 720601000
- Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome 1220595008
- Caudal appendage deafness syndrome 726621009
- Central nervous system calcification, deafness, tubular acidosis, anemia syndrome 726669007
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome 720634003
- Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome 763136000
- Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005
- Choroideremia with deafness and obesity syndrome 717761005
- Chudley McCullough syndrome 773610007
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008
- Congenital cataract with ataxia and deafness syndrome 719102004
- Congenital cataract with deafness and hypogonadism syndrome 722378009
- Congenital cataract, hearing loss, severe developmental delay syndrome 773648002
- Congenital deafness with labyrinthine aplasia, microtia and microdontia 702360007
- Congenital hereditary endothelial dystrophy and perceptive deafness syndrome 720749004
- Coxoauricular syndrome 732248005
- Deaf blind hypopigmentation syndrome Yemenite type 721084001
- Deafness and hypogonadism syndrome 718714006
- Deafness and intellectual disability Martin Probst type syndrome 721087008
- Deafness and myopia syndrome 720506002
- Deafness craniofacial syndrome 716245003
- Deafness with onychodystrophy syndrome 773735007
- Deafness, enamel hypoplasia, nail defect syndrome 721085000
- Deafness, encephaloneuropathy, obesity, valvulopathy syndrome 763688008
- Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome 721086004
- Deafness, small bowel diverticulosis, neuropathy syndrome 733071009
- Deafness, vitiligo, achalasia syndrome 733069009
- Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome 721089006
- Developmental malformation, deafness, dystonia syndrome 721092005
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome 1172604004
- Distal arthrogryposis type 6 720515009
- Duane retraction syndrome with congenital deafness 1230014007
- Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004
- Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome 1169356004
- Ectodermal dysplasia and sensorineural deafness syndrome 732953008
- Ehlers-Danlos syndrome kyphoscoliotic and deafness type 720859009
- Epiphyseal dysplasia, hearing loss, dysmorphism syndrome 766870005
- Epithelio-exfoliative colitis and deafness syndrome 718773007 removed: 2019-07-31
- Fine Lubinsky syndrome 720955004
- Fountain syndrome 720957007
- Gemignani syndrome 782690007
- Gingival fibromatosis with progressive deafness syndrome 722449007
- Hirschsprung disease with deafness and polydactyly syndrome 721221000
- Hypertelorism, preauricular sinus, punctual pits, deafness syndrome 773667003
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome 773665006
- Hypoparathyroidism, deafness, renal disease syndrome 724282009
- Keipert syndrome 763774001
- KID syndrome 239059004
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome 1271009
- Lipodystrophy, intellectual disability, deafness syndrome 721973006
- Lowe Kohn Cohen syndrome 766249007
- Lowry Yong syndrome 716007007
- Maternally inherited cardiomyopathy and hearing loss syndrome 724173009
- MEDNIK syndrome 722035007
- Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome 733419006
- Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome 1254651003
- Mitochondrial myopathy, lactic acidosis, deafness syndrome 732951005
- Myoclonus, cerebellar ataxia, deafness syndrome 733065003
- Nathalie syndrome 716170005
- Nephropathy, deafness, hyperparathyroidism syndrome 724093004
- Nephrosis, deafness, urinary tract, digital malformation syndrome 724092009
- Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome 773647007
- Neutropenia, monocytopenia, deafness syndrome 725137007
- Noise-induced permanent threshold shift 262764000
- Noise-induced temporary threshold shift 262763006 removed: 2020-01-31
- Oculootodental syndrome 770944002
- Oculootoradial syndrome 722019000
- Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009
- PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002
- Peripheral neuropathy with sensorineural hearing impairment syndrome 723497003
- Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome 782752005
- Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome 715506001
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome 723452007
- Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome 719272007
- Ramos Arroyo syndrome 723504000
- Renal caliceal diverticuli and deafness syndrome 782942003
- Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005
- Rubella deafness 186570004
- Sensorineural deafness with dilated cardiomyopathy syndrome 723993005
- Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome 770751003
- Severe X-linked intellectual disability Gustavson type 722213009
- Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome 1284851009
- Spastic paraplegia, nephritis, deafness syndrome 733089005
- Split hand, split foot malformation with sensorineural hearing loss syndrome 723611008
- Split-foot malformation, mesoaxial polydactyly syndrome 1172635005
- Spondyloepiphyseal dysplasia MacDermot type 718763005
- Stapes ankylosis with broad thumb and toe syndrome 719305006
- Stickler syndrome type 3 783097004
- Waardenburg's syndrome 47434006
- Wolfram-like syndrome 734022008
- X-linked hereditary sensory and autonomic neuropathy with deafness 719838008
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