| 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
- Alport syndrome 770414008
- Alstrom syndrome 63702009
- Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007
- Arts syndrome 702441001
- 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
- Auriculo-condylar syndrome 702443003
- Autosomal dominant aplasia and myelodysplasia 778006008
- Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome 722293005
- 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
- Bartter syndrome type 4 700112007
- Beta-D-mannosidosis 238047006
- Bilateral microtia with deafness and cleft palate syndrome 717909004
- Black locks, oculocutaneous albinism, AND deafness of the sensorineural type 10170007
- Bosley Salih Alorainy syndrome 720567008
- Branchiogenic deafness syndrome 717944002
- Branchiootic syndrome 764810000
- Brown-Vialetto-Van Laere syndrome 699866005
- Camptodactyly and tall stature with scoliosis and hearing loss syndrome 720601000
- Cardiospondylocarpofacial syndrome 720612000
- Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome 1220595008
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 1236804009
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome 720634003
- Charcot-Marie-Tooth disease type IE 715666007
- Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome 763136000
- Chitty Hall Baraitser syndrome 716238003
- Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005
- Chudley McCullough syndrome 773610007
- Cleft palate with stapes fixation and oligodontia syndrome 719468005
- Cleft palate, large ears, small head syndrome 763130006
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008
- Combined oxidative phosphorylation defect type 25 1173035001
- 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 cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005
- Congenital deafness with labyrinthine aplasia, microtia and microdontia 702360007
- Congenital hereditary endothelial dystrophy and perceptive deafness syndrome 720749004
- Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002
- Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004
- Cooper Jabs syndrome 720748007
- Coxoauricular syndrome 732248005
- Craniofacial deafness hand syndrome 702362004
- Cryptomicrotia brachydactyly syndrome 725096002
- Deaf blind hypopigmentation syndrome Yemenite type 721084001
- Deafness and hypogonadism syndrome 718714006
- Deafness and myopia syndrome 720506002
- Deafness and oligodontia syndrome 715527006
- Deafness craniofacial syndrome 716245003
- Deafness with onychodystrophy syndrome 773735007
- Deafness, enamel hypoplasia, nail defect syndrome 721085000
- Deafness, encephaloneuropathy, obesity, valvulopathy syndrome 763688008
- Deafness, small bowel diverticulosis, neuropathy syndrome 733071009
- Deafness, vitiligo, achalasia syndrome 733069009
- Deafness-dystonia-optic neuronopathy syndrome 702423009
- Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome 721089006
- Developmental malformation, deafness, dystonia syndrome 721092005
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome 1172604004
- Duane retraction syndrome with congenital deafness 1230014007
- Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004
- Ectodermal dysplasia and sensorineural deafness syndrome 732953008
- Ehlers-Danlos syndrome kyphoscoliotic and deafness type 720859009
- Epibulbar lipodermoid, preauricular appendage, polythelia syndrome 1208480004
- EVEN-plus syndrome 1260203008
- External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006
- Facial dysmorphism, conductive hearing loss, heart defect syndrome 763279007
- Familial amyloid nephropathy with urticaria AND deafness 15123008
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness 783614008
- Fine Lubinsky syndrome 720955004
- Flat face, microstomia, ear anomaly syndrome 773750003
- Fountain syndrome 720957007
- Gemignani syndrome 782690007
- Gingival fibromatosis with progressive deafness syndrome 722449007
- Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance 93466004
- Hennekam Beemer syndrome 722453009
- Hereditary hearing loss 788953003
- Hereditary sensory and autonomic neuropathy with deafness and global delay 717826009
- Hirschsprung disease with deafness and polydactyly syndrome 721221000
- Hypertelorism with microtia and facial clefting syndrome 721836009
- Hypertelorism, preauricular sinus, punctual pits, deafness syndrome 773667003
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome 773665006
- Hypoparathyroidism, deafness, renal disease syndrome 724282009
- Hypotrichosis and deafness syndrome 783555001
- Infantile multisystem neurologic, endocrine, pancreatic disease 1260450002
- Inherited cochlear degeneration 232306005
- Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001
- Isotretinoin-like syndrome 722006004
- Jervell and Lange-Nielsen syndrome 373905003
- Johnson neuroectodermal syndrome 721584005
- Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome 1255271005
- Kawashima Tsuji syndrome 716112005
- Keipert syndrome 763774001
- KID syndrome 239059004
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome 1271009
- Lipodystrophy, intellectual disability, deafness syndrome 721973006
- Lowry Yong syndrome 716007007
- Mandibular hypoplasia, deafness, progeroid syndrome 773406003
- Maternally inherited cardiomyopathy and hearing loss syndrome 724173009
- Maternally inherited diabetes and deafness 237619009
- MEDNIK syndrome 722035007
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 237617006
- Melnick-Fraser syndrome 290006
- Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome 733419006
- Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome 1254651003
- Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome 724139004
- Multiple epiphyseal dysplasia Beighton type 719689005
- Mutilating keratoderma 24559001
- Myhre syndrome 699316006
- 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
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007
- Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome 771308008
- Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome 723442008
- Oculoauricular syndrome Schorderet type 763815000
- Oculootoradial syndrome 722019000
- Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009
- Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome 722108000
- Oto-onycho-peroneal syndrome 441944007
- Oto-palato-digital syndrome, type I 54036001
- Oto-palato-digital syndrome, type II 42432003
- Otodental syndrome 1237343009
- Palmoplantar keratoderma with deafness syndrome 722203001
- PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002
- Pendred's syndrome 70348004
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002
- Peripheral neuropathy with sensorineural hearing impairment syndrome 723497003
- Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome 782752005
- Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction 237612000
- Pili torti-deafness syndrome 67817003
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome 723452007
- Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome 1237413006
- Progressive deafness with stapes fixation 715529009
- Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome 719272007
- Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness 236529001
- Ramos Arroyo syndrome 723504000
- Renal tubular acidosis with progressive nerve deafness 236532003
- Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003
- Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005
- Retinitis pigmentosa-deafness syndrome 57838006
- Richards-Rundle syndrome 715415005
- Scalp, ear, nipple syndrome 721888002
- Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome 721207002
- Sellars Beighton syndrome 716243005
- Sensorineural deafness and male infertility 700489002
- Sensorineural deafness with dilated cardiomyopathy syndrome 723993005
- Sensorineural hearing loss, early graying, essential tremor syndrome 723721007
- Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome 770751003
- Severe X-linked intellectual disability Gustavson type 722213009
- Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome 774155009
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000
- Sinoatrial node dysfunction and deafness 770784003
- Spastic paraparesis and deafness 715504003
- 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
- Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 1260133007
- Temtamy preaxial brachydactyly syndrome 777998000
- Thickened earlobe with conductive deafness syndrome 722476007
- Thong Douglas Ferrante syndrome 716192009
- Tungland Bellman syndrome 716239006
- Upper limb defect with eye and ear abnormalities syndrome 716110002
- Waardenburg Shah syndrome 715952000
- Wolfram syndrome 70694009
- Wolfram-like syndrome 734022008
- X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome 1167372000
- X-linked hereditary sensory and autonomic neuropathy with deafness 719838008
- X-linked sensorineural hearing loss 232329002
- X-linked spinocerebellar ataxia type 3 719817002
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