Disorder of nervous system
Finding of sensory function
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Disorder of sensory function (disorder)
Disorder of sensory function
aandoening van zintuiglijke functies
Id
60981000146109
Status
Defined
Interprets
Sensory function
Finding site
Structure of special senses organ system
Finding site
Structure of nervous system
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3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
Arts syndrome
Ataxia with deafness and intellectual disability syndrome
Athabaskan brainstem dysgenesis syndrome
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome
Auditory synaptopathy
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome
Autosomal dominant spastic paraplegia type 29
Brown-Vialetto-Van Laere syndrome
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
Charcot-Marie-Tooth disease type IE
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
Chudley McCullough syndrome
Combined oxidative phosphorylation defect type 25
Congenital cataract with ataxia and deafness syndrome
Congenital cataract, hearing loss, severe developmental delay syndrome
Congenital hereditary facial paralysis with variable hearing loss syndrome
Congenital trigeminal anesthesia
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
Deafness, small bowel diverticulosis, neuropathy syndrome
Developmental malformation, deafness, dystonia syndrome
Diabetes mellitus AND insipidus with optic atrophy AND deafness
Disorder of smell
3
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
Gemignani syndrome
Hereditary sensory and autonomic neuropathy with deafness and global delay
Hirschsprung disease with deafness and polydactyly syndrome
Horner's syndrome pupil
1
Hypogonadism with anosmia
1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
Myoclonus, cerebellar ataxia, deafness syndrome
Neural hearing loss
4
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
Olivopontocerebellar atrophy and deafness
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease
Peripheral neuropathy with sensorineural hearing impairment syndrome
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
Sellars Beighton syndrome
Sensorineural hearing loss, early graying, essential tremor syndrome
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
Severe X-linked intellectual disability Gustavson type
Spastic ataxia with congenital miosis
Spastic paraparesis and deafness
Spastic paraplegia, nephritis, deafness syndrome
Visual snow syndrome
Waardenburg Shah syndrome
Wildervanck syndrome
Wolfram-like syndrome
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked spinocerebellar ataxia type 3
