Phenotypes for disease #01816 (MADD (acyl-CoA dehydrogenation deficiency, multiple (MADD)), OMIM:231680)

18 entries on 1 page. Showing entries 1 - 18.
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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     
0000143263 (HP:0045045) Elevated plasma acylcarnitine levels - - Familial, autosomal recessive - - - - - Belen Perez 00180982
0000143318 - - - Familial, autosomal recessive - - - - - Belen Perez 00181065
0000173125 - multiple acyl-CoA dehydrogenation deficiency MADD;GA-2B Familial, autosomal recessive - - - - - Belen Perez 00181017
0000173126 see paper; … multiple acyl-CoA dehydrogenation deficiency LSMFLAD Familial, autosomal recessive - - - - - Johan den Dunnen 00230646
0000173127 see paper; … multiple acyl-CoA dehydrogenation deficiency LSMFLAD Familial, autosomal recessive - - - - - Johan den Dunnen 00230647
0000173128 see paper; … multiple acyl-CoA dehydrogenation deficiency LSMFLAD Familial, autosomal recessive - - - - - Johan den Dunnen 00230648
0000173129 see paper; … multiple acyl-CoA dehydrogenation deficiency LSMFLAD Familial, autosomal recessive - - - - - Johan den Dunnen 00230649
0000173130 see paper; … multiple acyl-CoA dehydrogenation deficiency LSMFLAD Familial, autosomal recessive - - - - - Johan den Dunnen 00230650
0000173131 see paper; … multiple acyl-CoA dehydrogenation deficiency LSMFLAD Familial, autosomal recessive - - - - - Johan den Dunnen 00230651
0000173132 see paper; … multiple acyl-CoA dehydrogenation deficiency LSMFLAD Familial, autosomal recessive - - - - - Johan den Dunnen 00230652
0000173468 severe form multiple acyl-CoA dehydrogenation deficiency MADD Familial, autosomal recessive - - - - - Rikke Katrine Jentoft Olsen 00230984
0000201655 muscle weakness, muscular hypotonia, mild myogenic damage，myocardial damage，fatty liver - - Familial, autosomal recessive - - - - - Guorui Hu 00263297
0000228660 - - - Familial, autosomal recessive - - - - - Helen Latsoudis 00301529
0000342151 see paper; ..., birth 32w-urgent caesarean section due to cardiotocographic alterations in primigravida, 31w-pregnancy complicated by oligo-hydramnios, intrauterine fetal growth retardation, significantly hypotonic, weight 1470g (24th centile), length 40cm (21st centile), OFC 31cm (84th centile) multiple acyl-CoA dehydrogenase deficiency MADD Familial, autosomal recessive - - - - - Johan den Dunnen 00453493
0000342152 see paper; ..., newborn screening multiple acyl-CoA dehydrogenase deficiency MADD Familial, autosomal recessive 3y - - - - Johan den Dunnen 00453494
0000342153 see paper; ..., newborn screening multiple acyl-CoA dehydrogenase deficiency MADD Familial, autosomal recessive - - - - - Johan den Dunnen 00453495
0000342154 see paper; ..., newborn screening multiple acyl-CoA dehydrogenase deficiency MADD Familial, autosomal recessive - - - - - Johan den Dunnen 00453496
0000342155 see paper; ..., newborn screening multiple acyl-CoA dehydrogenase deficiency MADD Familial, autosomal recessive - - - - - Johan den Dunnen 00453497
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