All individuals with variants in gene NDUFAF5

12 entries on 1 page. Showing entries 1 - 12.
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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
00467350 Pat_16 PubMed: Tong 2018 patient M - China - - - - - NDD global developmental delay, hyponatremia, pneumonia, dehydration, vomiting, seizures, dysphagia, feeding difficulties in infancy, cow milk allergy, abdominal distention, muscular hypotonia, hypoplasia corpus callosum, focal T2 hyperintense brainstem lesion, respiratory failure requiring assisted ventilation 2 1 Johan den Dunnen
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