Disease #01624 (ACADMD (medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD)), OMIM:201450)

Official abbreviation ACADMD
Name medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD)
OMIM ID 201450
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 34
Phenotype entries for this disease 19
Associated with 1 gene ACADM
Associated tissues -
Disease features -
Remarks -


Individuals

34 entries on 1 page. Showing entries 1 - 34.
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00181009 - - - - - - - - - - - ACADMD - ACADM ACADM 2 1 Belen Perez
00181010 - - - - - - - - - - - ACADMD - ACADM ACADM 2 1 Belen Perez
00181059 - - - - - - - - - - - ACADMD - ACADM ACADM 1 1 Belen Perez
00181061 - - - - - - - - - - - ACADMD - ACADM ACADM 1 1 Belen Perez
00181062 - - - - - - - - - - - ACADMD - ACADM ACADM 1 1 Belen Perez
00309845 M001 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - ACADMD see paper; ... ACADM ACADM 2 1 Johan den Dunnen
00309850 M006 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - ACADMD see paper; ... ACADM ACADM 1 1 Johan den Dunnen
00309852 M008 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - ACADMD see paper; ... ACADM ACADM 1 1 Johan den Dunnen
00309856 M012 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - ACADMD see paper; ... ACADM ACADM 1 1 Johan den Dunnen
00309857 M013 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - ACADMD see paper; ... ACADM ACADM 1 1 Johan den Dunnen
00309860 M016 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - ACADMD see paper; ... ACADM ACADM 1 1 Johan den Dunnen
00309861 M017 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - ACADMD see paper; ... ACADM ACADM 2 1 Johan den Dunnen
00335784 MCADD_P1 - - M no China Chinese - - - - ACADMD convulsion coma ACADM ACADM 2 1 Wenjuan Qiu
00335785 ACADM-P2 - - F - China - - - - - ACADMD diarrhea vomiting convulsion ACADM ACADM 2 1 Wenjuan Qiu
00335786 ACADM-P3 - - M - China - - - - - ACADMD lethargy, hypoglycemia ACADM ACADM 1 1 Wenjuan Qiu
00335787 ACADM-P4 - - M - China - - - - - ACADMD Vomiting diarrhea convulsion ACADM ACADM 2 1 Wenjuan Qiu
00335788 ACADM-P5 - - M - China - - - - - ACADMD - ACADM ACADM 2 1 Wenjuan Qiu
00335789 ACADM-P6 - - F - China - - - - - ACADMD fever, lethargy hypoglycemia ACADM ACADM 1 1 Wenjuan Qiu
00335790 ACADM-N1 - - - - China - - - - - ACADMD - ACADM ACADM 2 1 Wenjuan Qiu
00335791 ACADM-N2 - - - - China - - - - - ACADMD - ACADM ACADM 2 1 Wenjuan Qiu
00335792 ACADM-N3 - - M - China - - - - - ACADMD - ACADM ACADM 1 1 Wenjuan Qiu
00335793 ACADM-N4 - - F - China - - - - - ACADMD - ACADM ACADM 2 1 Wenjuan Qiu
00335794 ACADM-N5 - - - - - - - - - - ACADMD - ACADM ACADM 2 1 Wenjuan Qiu
00335796 ACADM-N7 - - M - China - - - - - ACADMD - ACADM ACADM 2 1 Wenjuan Qiu
00335798 ACADM-N8 - - F - - - - - - - ACADMD - ACADM ACADM 2 1 Wenjuan Qiu
00335799 ACADM-N10 - - F - China - - - - - ACADMD - ACADM ACADM 2 1 Wenjuan Qiu
00335800 ACADM-N11 - - F - China - - - - - ACADMD - ACADM ACADM 1 1 Wenjuan Qiu
00335801 ACADM-N12 - - M - China - - - - - ACADMD - ACADM ACADM 1 1 Wenjuan Qiu
00335802 ACADM-N13 - - M - China - - - - - ACADMD - ACADM ACADM 2 1 Wenjuan Qiu
00335803 ACADM-N14 - - F - China - - - - - ACADMD - ACADM ACADM 1 1 Wenjuan Qiu
00335804 ACADM-N15 - - M - China - - - - - ACADMD - ACADM ACADM 1 1 Wenjuan Qiu
00335805 ACADM-N16 - - - - - - - - - - ACADMD - ACADM ACADM 2 1 Wenjuan Qiu
00335806 ACADM-N17 - - F - China - - - - - ACADMD - ACADM ACADM 1 1 Wenjuan Qiu
00335807 ACADM-N18 - - - - - - - - - - ACADMD - ACADM ACADM 2 1 Wenjuan Qiu
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