Phenotypes for disease #03386 (SPAX4 (ataxia, spastic, type 4, autosomal dominant (SPAX-4)), OMIM:613672)

2 entries on 1 page. Showing entries 1 - 2.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000041530 ataxia, myoclonus, dystonia, epilepsy, high CK cerebellar ataxia EPM6 Familial, autosomal recessive - - 02y - - Erik-Jan Kamsteeg 00054866
0000041533 ataxia, ovarian dysgenesis, deafness, neuropathy, ID cerebellar ataxia MTDPS7 Familial, autosomal recessive - - 03y - - Erik-Jan Kamsteeg 00054869
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