All individuals with variants in gene MMACHC

25 entries on 1 page. Showing entries 1 - 25.
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AscendingIndividual ID     
ID_report     
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Remarks     
Gender     
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00000017 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00289865 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00289866 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289867 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00289868 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295743 - - - F - - - - - - - ? 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 - - - - - ? - 2 1 Sha Hong
00305906 21 - - F - China - - - - - ? - 2 1 Sha Hong
00305908 24 - - M - China - - - - - ? - 1 1 Sha Hong
00306194 92 - - M - China - - - - - MAHCC - 2 1 Sha Hong
00311128 CHU-12122 PubMed: Guéant 2018 - F - - white 00y01m - - - MAHCC see paper; ... 3 1 Johan den Dunnen
00311129 WG-3838 PubMed: Guéant 2018 - F - Japan;Korea - 00y02m - - - MAHCC - 3 1 Johan den Dunnen
00311130 WG-4152 PubMed: Guéant 2018 - M - - white >59y - - - MAHCC - 3 1 Johan den Dunnen
00374402 S-5406 PubMed: Ganapathy 2019 - - - India - - - - - ? 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
00386503 - PubMed: Nair 2018 patient - - Lebanon - - - - - ? intellectual disability; developmental delay; failure to thrive (metabolic) 1 1 Johan den Dunnen
00386507 - PubMed: Nair 2018 patient - - Lebanon - - - - - ? ketosis; lactic acidosis; elevated leucine-isoleucine-valine (metabolic) 1 1 Johan den Dunnen
00410256 ? PubMed: Hanemaaijer 2009 - M - - - - - - - ? Birth weight 2505 g (-2.5 standard deviations, SD), head circumference: 33 cm (-1.3 SD); bilateral coloboma of the iris and fundus and opacification of the inferior nasal part of the cornea; 2 months: right-sided inguinal hernia surgically corrected; one month later hospitalisation because of feeding difficulties and a laryngomalacia was diagnosed by laryngotracheobronchoscopy. 3m3w: length 58.5 cm (-2.3 SD), head circumference 36 cm (-2.5 SD); 80 dB mixed hearing loss of the left ear, 11 pairs of ribs with a hypoplastic first rib (left side more pronounced than right side), a sacral dimple and hypertonia; cerebral magnetic resonance imaging, cardiac and renal ultrasound, metabolic screening (including creatine kinase): normal; intra-uterine infections, especially cytomegalovirus infection: excluded; last examination: 9 months old, despite continuing feeding problems, catch-up growth with a length of 71 cm (-0.9 SD); microcephaly severely progressive - head circumference of 39.2 cm (-5.0 SD) with plagiocephaly; craniosynostosis excluded by X-ray examination; nystagmus with severe visual impairment, axial hypotonia with head lag, hypertonia of limbs and developmental delay were noted during neurological examination; no directive movements or visual pursuit; clinical episodes of suspected convulsions, electroencephalography: no signs of epilepsy 1 1 LOVD
00414444 WHP111 PubMed: Sun 2018 - M - China - - - - - ? - 2 1 LOVD
00427063 - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - Healthy/Control - 2 1 Johan den Dunnen
00452207 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 2 Johan den Dunnen
00452208 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00452209 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00452210 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00453634 Pat50 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
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