Spastic paraparesis-deafness syndrome

Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.



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Total: 0 (papers)
  


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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:0001288 Gait disturbance Very frequent (99-80%)
HP:0001347 Hyperreflexia Very frequent (99-80%)
HP:0002313 Spastic paraparesis Very frequent (99-80%)
HP:0004374 Hemiplegia/hemiparesis Very frequent (99-80%)
HP:0007328 Impaired pain sensation Very frequent (99-80%)
HP:0000135 Hypogonadism Frequent (79-30%)
HP:0000505 Visual impairment Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0100022 Abnormality of movement Frequent (79-30%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0001251 Ataxia Occasional (29-5%)


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