All individuals with variants in gene RMND1

21 entries on 1 page. Showing entries 1 - 21.
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00080919 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - COXPD11 Combined oxidative phosphorylation deficiency 11 (OMIM:614922) 1 1 Daniel Trujillano
00094007 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - COXPD11 developmental delay; autistic spectrum disorder; sensorineural hearing loss; febrile seizure; hypotonia; lactic acidosis; no renal abnormalities 1 1 Johan den Dunnen
00094008 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - COXPD11 developmental delay; autistic spectrum disorder; sensorineural hearing loss; febrile seizure; hypotonia; no lactic acidosis; no renal abnormalities; onset neonatal period 1 1 Johan den Dunnen
00094009 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - 5y9m - - - COXPD11 developmental delay; no autistic spectrum disorder; sensorineural hearing loss; no seizures; hypotonia; lactic acidosis; renal abnormalities; onset neonatal period 1 1 Johan den Dunnen
00094010 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - 6m - - - COXPD11 developmental delay; no autistic spectrum disorder; sensorineural hearing loss; no seizures; hypotonia; lactic acidosis; renal abnormalities; onset neonatal period 1 1 Johan den Dunnen
00094011 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - COXPD11 developmental delay; no autistic spectrum disorder; sensorineural hearing loss; no seizures; hypotonia; lactic acidosis; renal abnormalities; onset neonatal period 2 1 Johan den Dunnen
00094012 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - COXPD11 developmental delay; no autistic spectrum disorder; sensorineural hearing loss; no seizures; hypotonia; lactic acidosis; renal abnormalities 2 1 Johan den Dunnen
00094013 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - 1y4m - - - COXPD11 developmental delay; sensorineural hearing loss; no seizures; hypotonia; lactic acidosis; renal abnormalities 1 1 Johan den Dunnen
00094014 - PubMed: Janer 2015, Journal: Janer 2015, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - 4y2m - - - COXPD11 developmental delay; no autistic spectrum disorder; sensorineural hearing loss; seizures; hypotonia; lactic acidosis; renal abnormalities; onset prenatal period 2 1 Johan den Dunnen
00094015 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - COXPD11 developmental delay; autistic spectrum disorder; sensorineural hearing loss; seizures; hypotonia; lactic acidosis; renal abnormalities 1 1 Johan den Dunnen
00094016 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - COXPD11 developmental delay; no autistic spectrum disorder; sensorineural hearing loss; no seizures; hypotonia; lactic acidosis; renal abnormalities; onset neonatal period 2 1 Johan den Dunnen
00094017 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - 1y9m - - - COXPD11 developmental delay; no autistic spectrum disorder; sensorineural hearing loss; seizures; hypotonia; lactic acidosis; renal abnormalities; onset prenatal period 2 1 Johan den Dunnen
00094018 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - COXPD11 developmental delay; no autistic spectrum disorder; sensorineural hearing loss; seizures; hypotonia; lactic acidosis; renal abnormalities 2 1 Johan den Dunnen
00103748 SUDS050 PubMed: Neubauer 2018, Journal: Neubauer 2018 - M - Switzerland Africa 32y - - - SUD SUD, SUDEP 1 1 Cordula Haas
00293998 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00296568 Pat1 PubMed: Taylor 2014 - M yes United Kingdom (Great Britain) Pakistan - - - - ? muscle not affected; central nervous system not affected; heart not affected; liver not affected; deafness, dysplastic kidneys, lactic acidosis 1 1 Johan den Dunnen
00296569 Pat2 PubMed: Kemp 2011, PubMed: Taylor 2014 - M yes United Kingdom (Great Britain) Pakistan 1y - - - ? deceased; muscle affected; central nervous system affected; heart not affected; liver not affected; deafness, anaemia& lactic acidosis 1 1 Johan den Dunnen
00296570 Pat3 PubMed: Taylor 2014 - F yes United Kingdom (Great Britain) Pakistan - - - - ? muscle affected; central nervous system affected; heart affected; liver not affected; deafness, renal dysplasia, lactic acidosis 1 1 Johan den Dunnen
00296571 Pat4 PubMed: Kemp 2011, PubMed: Taylor 2014 - F yes Turkey - 10y - - - ? deceased; muscle not affected; central nervous system not affected; heart affected; liver not affected; deafness, renal tubular acidosis 1 1 Johan den Dunnen
00296572 Pat5 PubMed: Taylor 2014 - F yes United Kingdom (Great Britain) Pakistan - - - - ? muscle not affected; central nervous system not affected; heart not affected; liver not affected; deafness, lactic acidosis 1 1 Johan den Dunnen
00296573 Pat6 PubMed: Taylor 2014 - M - United Kingdom (Great Britain) British 5y - - - ? deceased; muscle affected; central nervous system not affected; heart not affected; liver not affected; seizures, deafness, renal tubular acidosis 2 1 Johan den Dunnen
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