Disease #00623

Official abbreviation MEGDEL
Name 3-methylglutaconic aciduria with deafness, encephalopathy, Leigh-like syndrome (MEGDEL)
OMIM ID 614739
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 1 gene SERAC1
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Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00080949 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MEGDEL 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (OMIM:614739) SERAC1 SERAC1 1 1 Daniel Trujillano
00100918 22683713-Pat1 PubMed: Wortmann 2012, Journal: Wortmann 2012 - F yes Turkey - 10y 0 - - MEGDEL see paper; … SERAC1 SERAC1 1 1 Johan den Dunnen
00100919 22683713-Pat2 PubMed: Wortmann 2012, Journal: Wortmann 2012 - F no Netherlands - 16y 0 - - MEGDEL see paper; … SERAC1 SERAC1 1 1 Johan den Dunnen
00100920 22683713-Pat3 PubMed: Wortmann 2012, Journal: Wortmann 2012 3-generation family, 3 affects (2F, M), niece of Pat6/7 F yes Turkey - >15y 0 - - MEGDEL see paper; … SERAC1 SERAC1 1 3 Johan den Dunnen
00100921 22683713-Pat4 PubMed: Wortmann 2012, Journal: Wortmann 2012 - F yes Turkey - >15y 0 - - MEGDEL see paper; … SERAC1 SERAC1 1 1 Johan den Dunnen
00100922 22683713-Pat5 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - >11y 0 - - MEGDEL see paper; … SERAC1 SERAC1 1 1 Johan den Dunnen
00100923 22683713-Pat6 PubMed: Wortmann 2012, Journal: Wortmann 2012 sister of Pat7, niece of Pat3 F yes Turkey - >7y 0 - - MEGDEL see paper; … SERAC1 SERAC1 1 1 Johan den Dunnen
00100924 22683713-Pat7 PubMed: Wortmann 2012, Journal: Wortmann 2012 brother of Pat6 M yes Turkey - 7d 0 - - MEGDEL see paper; … SERAC1 SERAC1 1 1 Johan den Dunnen
00100925 22683713-Pat8 PubMed: Wortmann 2012, Journal: Wortmann 2012 - M yes Afghanistan - 9y 0 - - MEGDEL see paper; … SERAC1 SERAC1 1 1 Johan den Dunnen
00100926 22683713-Pat9 PubMed: Wortmann 2012, Journal: Wortmann 2012 - M no Turkey - >4y 0 - - MEGDEL see paper; … SERAC1 SERAC1 1 1 Johan den Dunnen
00100927 22683713-Pat10 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Poland - >5y 0 - - MEGDEL see paper; … SERAC1 SERAC1 2 1 Johan den Dunnen
00100928 22683713-Pat11 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Poland - >8y 0 - - MEGDEL see paper; … SERAC1 SERAC1 2 1 Johan den Dunnen
00100929 22683713-Pat12 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - >10y 0 - - MEGDEL see paper; … SERAC1 SERAC1 1 1 Johan den Dunnen
00100930 22683713-Pat13 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Sweden - 9y 0 - - MEGDEL see paper; … SERAC1 SERAC1 2 1 Johan den Dunnen
00100931 22683713-Pat14 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Sweden - 15y 0 - - MEGDEL see paper; … SERAC1 SERAC1 2 1 Johan den Dunnen
00100932 22683713-Pat15 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Sweden - 3y 0 - - MEGDEL see paper; … SERAC1 SERAC1 2 1 Johan den Dunnen
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