Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.



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: 13

HPO ID Term Frequency
HP:0000617 Abnormality of ocular smooth pursuit Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001251 Ataxia Very frequent (99-80%)
HP:0001260 Dysarthria Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001272 Cerebellar atrophy Very frequent (99-80%)
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0002070 Limb ataxia Very frequent (99-80%)
HP:0002078 Truncal ataxia Very frequent (99-80%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0002015 Dysphagia Frequent (79-30%)
HP:0002317 Unsteady gait Frequent (79-30%)
HP:0007979 Gaze-evoked horizontal nystagmus Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SYT14 synaptotagmin 14 255928