Disease #03790 (COXPD11 (combined oxidative phosphorylation deficiency, type 11 (COXPD-11)), OMIM:614922)

Official abbreviation COXPD11
Name combined oxidative phosphorylation deficiency, type 11 (COXPD-11)
OMIM ID 614922
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 1 gene RMND1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00080919 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - COXPD11 Combined oxidative phosphorylation deficiency 11 (OMIM:614922) RMND1 RMND1 1 1 Daniel Trujillano
00092238 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, affectedmother and son F;M - United States - - - - - COXPD11, PCTT pancreatitis, hereditary, severe IDD, congenital lactic acidosis, severe myopathy, hearing loss, renal failure, dysautonomia PRSS1, RMND1 PRSS1 1 1 Johan den Dunnen
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 RMND1 RMND1 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 RMND1 RMND1 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 RMND1 RMND1 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 RMND1 RMND1 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 RMND1 RMND1 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 RMND1 RMND1 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 RMND1 RMND1 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 RMND1 RMND1 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 RMND1 RMND1 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 RMND1 RMND1 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 RMND1 RMND1 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 RMND1 RMND1 2 1 Johan den Dunnen
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