Olivopontocerebellar atrophy-deafness syndrome

Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0001251 Ataxia Very frequent (99-80%)
HP:0001347 Hyperreflexia Very frequent (99-80%)
HP:0002119 Ventriculomegaly Very frequent (99-80%)
HP:0002120 Cerebral cortical atrophy Very frequent (99-80%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0002542 Olivopontocerebellar atrophy Frequent (79-30%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000567 Chorioretinal coloboma Occasional (29-5%)
HP:0000648 Optic atrophy Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001276 Hypertonia Occasional (29-5%)
HP:0002167 Neurological speech impairment Occasional (29-5%)
HP:0002353 EEG abnormality 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