Spinocerebellar ataxia-dysmorphism syndrome

Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.



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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: 26

HPO ID Term Frequency
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0000639 Nystagmus Very frequent (99-80%)
HP:0000974 Hyperextensible skin Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0002208 Coarse hair Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0002816 Genu recurvatum Very frequent (99-80%)
HP:0002967 Cubitus valgus Very frequent (99-80%)
HP:0003100 Slender long bone Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0003457 EMG abnormality Very frequent (99-80%)
HP:0004349 Reduced bone mineral density Very frequent (99-80%)
HP:0005692 Joint hyperflexibility Very frequent (99-80%)
HP:0007360 Aplasia/Hypoplasia of the cerebellum Very frequent (99-80%)
HP:0012471 Thick vermilion border Very frequent (99-80%)
HP:0000256 Macrocephaly Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000648 Optic atrophy Frequent (79-30%)
HP:0003298 Spina bifida occulta 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