All individuals with variants in gene MMACHC

15 entries on 1 page. Showing entries 1 - 15.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000017 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00289865 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00289866 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00289867 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00289868 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00295743 - - - F - - - - 0 - - ? Absence seizures with eyelid myoclonia (HP:0011149); Abnormality of brain morphology (HP:0012443); Brain atrophy (HP:0012444); Abnormality of nervous system physiology (HP:0012638); Neurological speech impairment (HP:0002167); Language impairment (HP:0002463) 1 1 Andreas Laner
00305900 15 - - M - China - - 0 - - ? - 2 1 Sha Hong
00305906 21 - - F - China - - 0 - - ? - 2 1 Sha Hong
00305908 24 - - M - China - - 0 - - ? - 1 1 Sha Hong
00306194 92 - - M - China - - - - - MAHCC - 2 1 Sha Hong
00311128 CHU-12122 PubMed: Guéant 2018 - F - - white 00y01m 0 - - MAHCC see paper; ... 3 1 Johan den Dunnen
00311129 WG-3838 PubMed: Guéant 2018 - F - Japan;Korea - 00y02m 0 - - MAHCC - 3 1 Johan den Dunnen
00311130 WG-4152 PubMed: Guéant 2018 - M - - white >59y 0 - - MAHCC - 3 1 Johan den Dunnen
00374402 S-5406 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Global developmental delay, seizures, spasticity, tremors, pancytopenia, optic atrophy, alopecia, hyperpigmentation and recurrent respiratory tract infection. MRI showed white matter hyperintensities and mild prominence of bilateral subarachnoid spaces 1 1 Johan den Dunnen
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