Phenotypes for disease #01626 (ACADVLD (deficiency, very long chain acyl-CoA dehydrogenase (ACADVLD)), OMIM:201475)

34 entries on 1 page. Showing entries 1 - 34.
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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     
0000060416 VLCAD deficiency (OMIM:201475) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080847
0000105380 - - - Unknown - - - - - Martina Witsch-Baumgartner 00132613
0000143316 - - - Familial, autosomal recessive - - - - - Belen Perez 00181063
0000143396 - - - Familial, autosomal recessive - - - - - Belen Perez 00181011
0000143397 see paper; ..., newborn screening, asymptomatic - - Familial, autosomal recessive 00y18m - - - - Belen Perez 00181012
0000231781 - - - Familial, autosomal recessive - - - - - Sha Hong 00305931
0000231970 - - - Unknown - - - - - Sha Hong 00306126
0000302306 see paper; ..., newborn screening, asymptomatic very long chain acyl-CoA dehydrogenase deficiency - Familial, autosomal recessive 5y6m - - - - Johan den Dunnen 00410202
0000302307 see paper; ..., newborn screening, metabolic decompensation, hepatopathy, myopathy, hypertrophic cardiomyopathy very long chain acyl-CoA dehydrogenase deficiency - Familial, autosomal recessive 3y - - - - Johan den Dunnen 00410203
0000302308 see paper; ..., newborn screening, asymptomatic very long chain acyl-CoA dehydrogenase deficiency - Familial, autosomal recessive 4y6m - - - - Johan den Dunnen 00410204
0000302309 see paper; ..., newborn screening, asymptomatic; 15d-infections; 14m-paroxysmal supraventricular tachycardia very long chain acyl-CoA dehydrogenase deficiency - Familial, autosomal recessive 14m - - - - Johan den Dunnen 00410205
0000302310 see paper; ..., newborn screening, asymptomatic very long chain acyl-CoA dehydrogenase deficiency - Familial, autosomal recessive 3y - - - - Johan den Dunnen 00410206
0000302311 see paper; ..., newborn screening, asymptomatic very long chain acyl-CoA dehydrogenase deficiency - Familial, autosomal recessive 5y6m - - - - Johan den Dunnen 00410207
0000302312 see paper; ..., newborn screening, asymptomatic very long chain acyl-CoA dehydrogenase deficiency - Familial, autosomal recessive 4y6m - - - - Johan den Dunnen 00410208
0000302313 see paper; ..., newborn screening, asymptomatic very long chain acyl-CoA dehydrogenase deficiency - Familial, autosomal recessive 5y - - - - Johan den Dunnen 00410209
0000302314 see paper; ..., newborn screening, metabolic decompensation very long chain acyl-CoA dehydrogenase deficiency - Familial, autosomal recessive 5y6m - - - - Johan den Dunnen 00410210
0000302315 see paper; ..., newborn screening, asymptomatic, infections very long chain acyl-CoA dehydrogenase deficiency - Familial, autosomal recessive 3y - - - - Johan den Dunnen 00410211
0000302316 see paper; ..., newborn screening, asymptomatic very long chain acyl-CoA dehydrogenase deficiency - Familial, autosomal recessive 2y - - - - Johan den Dunnen 00410212
0000302320 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 4y - - - - Johan den Dunnen 00410216
0000302321 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 12m - - - - Johan den Dunnen 00410217
0000302322 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 21m - - - - Johan den Dunnen 00410218
0000302323 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 4y - - - - Johan den Dunnen 00410219
0000302324 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 3y - - - - Johan den Dunnen 00410220
0000302325 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 12m - - - - Johan den Dunnen 00410221
0000302326 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 12m - - - - Johan den Dunnen 00410222
0000302327 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 2y6m - - - - Johan den Dunnen 00410223
0000302328 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 4y6m - - - - Johan den Dunnen 00410224
0000302329 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 17m - - - - Johan den Dunnen 00410225
0000302330 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 2y6m - - - - Johan den Dunnen 00410226
0000302331 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 14m - - - - Johan den Dunnen 00410227
0000302332 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 14m - - - - Johan den Dunnen 00410228
0000302333 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 20m - - - - Johan den Dunnen 00410229
0000302334 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 13m - - - - Johan den Dunnen 00410230
0000302335 see paper; ..., newborn screening, asymptomatic suspected very long chain acyl-CoA dehydrogenase deficiency - Unknown 21m - - - - Johan den Dunnen 00410231
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