Catalog
Syndromic genetic deafness
Link to WHO Definition
Syndromic genetic deafness – http://id.who.int/icd/entity/186534168
Parents
Children
- 5A05 Generalised resistance to thyroid hormone
- Connexin palmoplantar keratoderma with sensorineural deafness
- Split hand - split foot - deafness
- Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
- Maxillonasal dysplasia
- Metaphyseal dysostosis - intellectual deficit - conductive deafness
- Richards-Rundle syndrome
- Oral-facial-digital syndrome type 3
- Keratitis – ichthyosis – deafness syndrome
- 5A00.02 Pendred syndrome
- Thiamine-responsive megaloblastic anaemia syndrome
- Alport syndrome
- Cockayne syndrome
- Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
- Olivopontocerebellar atrophy - deafness
- Knuckle pads – leukonychia – sensorineural deafness
- Renal tubular acidosis - deafness
- Deafness – enamel hypoplasia – nail defects
- LD2H.1 Neuropathy with hearing impairment
- Long QT syndrome with hearing impairment
- Deafness - craniofacial syndrome
- Craniofacial-deafness-hand syndrome
- Spastic paraplegia - nephritis - deafness
- Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes
- Corneal dystrophy - perceptive deafness
- Hypoparathyroidism - deafness - renal disease
- Developmental delay - deafness, Hildebrand type
- Deafness - genital anomalies - metacarpal and metatarsal synostosis
- LD2H.3 Waardenburg-Shah syndrome
- Deafness-infertility syndrome
- Oral-facial-digital syndrome type 4
- Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
- Corneal anaesthesia - deafness - intellectual disability
- Cataract - deafness - hypogonadism
- LD2H.4 Usher syndrome
- Hearing loss - familial salivary gland insensitivity to aldosterone
- Spastic paraparesis - deafness
- Deafness - vitiligo - achalasia
- Brown-Vialetto-van Laere syndrome
- Otopalatodigital syndrome
- Schizophrenia - intellectual disability - deafness - retinitis
- Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome
- Cardioauditory syndrome
- Cochleosaccular degeneration - cataract
- Microdontia - microtia type I - deafness
- Nephrosis - deafness - urinary tract - digital malformations
- Tietz hypomelanosis – deafness syndrome
- Deafness - epiphyseal dysplasia - short stature
- Athabaskan brainstem dysgenesis syndrome
- Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness
- Hirschsprung disease - deafness - polydactyly
- Nephropathy - deafness - hyperparathyroidism
- Deafness - skeletal dysplasia - lip granuloma
- Bosley-Salih-Alorainy syndrome
- Choanal atresia - deafness - cardiac defects - dysmorphism
- Deafness, lymphoedema and leukaemia syndrome
- Lethal ataxia with deafness and optic atrophy
- LD44.N0 CATCH 22 phenotype
- Deafness - small bowel diverticulosis - neuropathy
- Caudal appendage - deafness
- LD2H.2 Progressive deafness with stapes fixation
- Oral-facial-digital syndrome type 1
- Mitral regurgitation - deafness - skeletal anomalies
- Oral-facial-digital syndrome type 8
- Oral-facial-digital syndrome type 2
- Albinism-deafness syndrome
- Oral-facial-digital syndrome type 6
- Fechtner syndrome
- Deafness - hypogonadism
- N syndrome
- Ermine phenotype
- Central nervous system calcification - deafness - tubular acidosis - anaemia
- Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness
- Lowe-Kohn-Cohen syndrome
- Short stature - deafness - neutrophil dysfunction - dysmorphism
- Deaf blind hypopigmentation syndrome, Yemenite type
- Ataxia - deafness - intellectual disability syndrome
- Maternally inherited diabetes and deafness
- Stickler syndrome
- Multiple synostoses syndrome
- Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit
- Perrault syndrome
- Choroideremia - deafness - obesity
- Deafness - oligodontia
- Cleft lip or palate - deafness - sacral lipoma
- Deafness - opticoacoustic nerve atrophy - dementia
- Bilateral microtia - deafness - cleft palate
- Alström syndrome
- Stapes ankylosis with broad thumbs and toes
- Cataract - ataxia - deafness
- Kearns-Sayre syndrome
- Myoclonus - cerebellar ataxia - deafness
- Deafness - optic atrophy syndrome
- Developmental malformations - deafness - dystonia
- Hypospadias-hypertelorism-coloboma and deafness
- Deafness - intellectual deficit syndrome, Martin-Probst type
- Deafness - peripheral neuropathy - arterial disease
- Gingival fibromatosis - progressive deafness
- CHARGE syndrome
- Phocomelia - ectrodactyly - deafness - sinus arrhythmia
- Thickened earlobes - conductive deafness
- Hypertrophic cardiomyopathy due to Kearns–Sayre syndrome
- Infantile Bartter syndrome with deafness
- Norrie disease
- Sensorineural hearing loss - early greying - essential tremor
- Ocular albinism - late-onset sensorineural deafness
- SeSAME syndrome
- Neutropaenia - monocytopaenia - deafness
- Spondyloepiphyseal dysplasia, MacDermot type
- Microcephaly - deafness - intellectual disability
- Peripheral neuropathy, Fiskerstrand type
- Arthrogryposis-like hand anomaly - sensorineural deafness
- Lipodystrophy - intellectual deficit - deafness
- Ectodermal dysplasia - sensorineural deafness
- LEOPARD syndrome
- LD2H.0 Fraser syndrome
- Iris dysplasia - hypertelorism - deafness