Phenotypes for disease #02445 (CDG-1C (glycosylation, congenital disorder of, type IC (CDG-1C)), OMIM:603147)

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000027854 Axial hypotonia, limited exercise tolerance, psychomotor developmental delay, inverted nipples , disturbed coagulation pathway - - Unknown 05y - 05y - - Anke Rietveld 00034457
0000027859 Hypotonia, fluctuating weakness, severe intellectual diability - - Unknown 00y00m - 00y00m - - Anke Rietveld 00034462
0000188531 growth retardation, hypotonia, cataracts, enlarged spleen, poor feeding, no cerebellar hypoplasia, normal liver function test - - - - - - - - Gert Matthijs 00249649
Legend   How to query