Cataract-ataxia-deafness syndrome

Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000519 Developmental cataract Very frequent (99-80%)
HP:0000762 Decreased nerve conduction velocity Very frequent (99-80%)
HP:0001251 Ataxia Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0001276 Hypertonia Very frequent (99-80%)
HP:0001284 Areflexia Very frequent (99-80%)
HP:0008615 Adult onset sensorineural hearing impairment Very frequent (99-80%)
HP:0009830 Peripheral neuropathy Very frequent (99-80%)
HP:0000505 Visual impairment Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0001337 Tremor Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID