| Medium-chain acyl-coenzyme A dehydrogenase deficiency |
C0220710 |
ACADM
|
Causal
Pathogenic evidence from ClinVar
|
1356169, 1363805, 1671131, 1684086, 1729890, 1902818, 1972503, 2251268, 2393404, 2394825, 3968063, 6434827, 6857268, 7603790, 7652482, 7730333, 7904584, 7929823, 8102510, 8104486, 8198141, 8535441, 9158144, 9797589, 9882619, 10767181, 11349232, 11409868, 11486912, 11673361, 15171998, 15479234, 15832312, 15915086, 16121256, 16291504, 16737882, 16763904, 17273963, 18075239, 18188679, 18241067, 18450854, 18767270, 19064330, 19156839, 19224950, 19649258, 19780764, 20036593, 20333879, 20434380, 20437613, 20567907, 21083904, 21228398, 21239873, 21483992, 21704015, 22166308, 22542437, 22630369, 22683754, 22796001, 22848008, 22975760, 23028790, 23095120, 23430840, 23509891, 23574375, 23700290, 23798014, 23810226, 23829193, 23842438, 24082139, 24294134, 24623196, 24718418, 24799540, 24816252, 24966162, 24998633, 25087612, 25333063, 25503862, 25763512, 25940036, 26215884, 26223887, 26947917, 27308838, 27477829, 27751224, 27856190, 27943070, 28581210, 29519241 |
ClinVar |