Phenotypes for disease #00040 (MTDPS7 (mitochondrial DNA depletion syndrome (hepatocerebral), type 7 (MTDPS-7)), OMIM:271245)

7 entries on 1 page. Showing entries 1 - 7.
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AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     

Individual ID     
0000001865 - Isolated (sporadic) - - - - - Complicated Ataxie - Marcel Nelen 00003014
0000046779 - Unknown - - - - - - - Sarah Pierce 00060278
0000046780 - Familial, autosomal recessive - - - 00y08m delayed gross motor milestones see paper; ..., infantile-onset spinocerebellar ataxia (IOSCA) - Johan den Dunnen 00060281
0000046781 - Familial, autosomal recessive - - - - - see paper; ..., infantile onset spinocerebellar ataxia (IOSCA - Johan den Dunnen 00060282
0000046782 - Familial, autosomal recessive - - - - - infantile onset spinocerebellar ataxia (IOSCA) - Johan den Dunnen 00060284
0000046783 - Familial, autosomal recessive - - - - - infantile onset spinocerebellar ataxia (IOSCA) - Johan den Dunnen 00060285
0000046784 - Familial, autosomal recessive - - - - - infantile onset spinocerebellar ataxia (IOSCA); see paper ... - Johan den Dunnen 00060286
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