All individuals with variants in gene NDUFAF5

11 entries on 1 page. Showing entries 1 - 11.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00174853 Pat1 PubMed: Simon 2019, Journal: Simon 2019 - - - United States Taiwan - - - - LS see paper; ... 2 1 Mariella Simon
00174854 Pat3 PubMed: Simon 2019, Journal: Simon 2019 - M - United States - - - - - LS ? 3 1 Mariella Simon
00174855 Pat2 PubMed: Simon 2019, Journal: Simon 2019 - - - United States Taiwan - - - - LS see paper; ... 1 1 Mariella Simon
00305912 Pat4 PubMed: Marcogliese 2018 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD, VMD no dysmorphisms; motor regression present (age onset unknown); 12y-single words; unsteady gait, clumsy, 12y-mostly wheelchair-bound; 12y-loss of fine motor skills; excessive drooling; 12y-lost continence; 15y-lower extremity dystonia; bilateral ptosis, macular degeneration; 12y-poor balance; Bracken Basics Concepts III Receptive and School Readiness Composite, Conner’s Parent Rating Scale, 6y-Child Behavior Checklist intellectual functioning at approximately 1-3 year level; 13y-epilepsy, spells that consist of falling that last about 1 min; EEG 6.5y-no electrographic or electroclinical sz, but photic stim produced photoconvulsive response, 13y-moderately abnormal - recorded photo myoclonic sz during intermittent photic stim, generalized interictal epileptiform features, sleep architecture was additionally somewhat disrupted with high-voltage rhythmic delta; MRI brain 6y-normal, 13y-normal, 15y-thin corpus callosum but overall within normal limits, MRI brain 13y-spine normal, 15y-spine normal 1 1 Johan den Dunnen
00306170 Pat4 PubMed: Simon 2019, Journal: Simon 2019 - M - United States Jewish-Ashkenazi - - - - LS see paper; ... 2 1 Mariella Simon
00394356 AgS1 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - retinal disease Increased pressure on optic nerve, electroretinogram consistent with Alstrom syndrome 1 1 LOVD
00436502 FamPatII2 PubMed: Hershkovitsz 2021 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives M yes Israel Arab;Christian 00y00m43d - - - COXPD see paper; ..., 43d-deceased; lethargy, hypotonia; respiratory failure; no seizures; cardiac failure; hypertrophic cardiomyopathy; adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; disseminated intravascular coagulation; hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Alanine, Glycine; elevated urine organic acids (lactate, 3-hydroxyisovaleric, ketones, 3-methyllgutaconic, 3-methyllgutaric acids); amino aciduria 1 3 Johan den Dunnen
00436503 FamPatII4 PubMed: Hershkovitsz 2021 sister F yes Israel Arab;Christian 7m - - - COXPD see paper; ..., 7m-deceased; lethargy, hypotonia; respiratory failure; no seizures; cardiac failure; no hypertrophic cardiomyopathy; no adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; disseminated intravascular coagulation; hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Alanine, Glycine; elevated urine organic acids (ethylmalonic, krebs cycle metabolites); amino aciduria 1 1 Johan den Dunnen
00436504 FamPatII5 PubMed: Hershkovitsz 2021 brother M yes Israel Arab;Christian - - - - COXPD see paper; ..., lethargy, hypotonia; no respiratory failure; no cerebral infraction; no seizures; no cardiac failure; no hypertrophic cardiomyopathy; no adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; no disseminated intravascular coagulation; no hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Glycine; elevated urine organic acids (lactate, ethylmalonic, ketones, 3-methyllgutaconic) 1 1 Johan den Dunnen
00461179 F037P040II-2 PubMed: Zheng 2024 family, 2 affected M - China - - - - - OPA see paper; ..., acute onset; best corrected visual acuity (first visit) OD 0.03/OS 0.04; fundus oculi (first visit) OD optic disc edema/OS optic disc edema; OCT OD thickening/OS thickening; 2 2 Johan den Dunnen
00461180 F037P039II-1 PubMed: Zheng 2024 relative M - China - - - - - OPA see paper; ..., acute onset; best corrected visual acuity (first visit) OD 0.01/OS light perception; fundus oculi (first visit) OD optic disc edema/OS optic disc edema; OCT OD thickening/OS thickening; electrophysiology normal (rod/cone); 2 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.