All individuals with variants in gene SLC25A42

16 entries on 1 page. Showing entries 1 - 16.
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00301728 17-2246 PubMed: Maddirevula 2019 - F - - - - - - - ? recurrent episodes of ketosis, and lactic acidosis usually triggered by intercurrent illness. There was no history of hyperammonemia or hypoglycemia. The frequency of the metabolic attacks is lessening with age. Urine organic acid analysis and acylcarnitine analysis were normal. Parents are consanguineous. 1 1 Johan den Dunnen
00431219 FamPatIII6 PubMed: Shamseldin 2016 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives, recurrent miscarriages in family M yes Saudi Arabia - - - - - MYOP see paper; ..., myopathy, lactic acidosis, muscle changes; motor delays; 24m-sit; 3y-walk; frequent muscle aches after muscle use, no history of urine discoloration; mild scoliosis; non-progressive myopia 1 1 Johan den Dunnen
00431220 Fam1Pat1 PubMed: Almannai 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - MYOP developmental regression; developmental delay/intellectual disability; no seizures; choreoathetosis; MRI brain bilateral symmetrical hyperintensities involving basal ganglia; hyperammonemia 205 umol/L; ECG poor left ventricular systolic function 1 1 Johan den Dunnen
00431221 Fam2Pat2 PubMed: Almannai 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - MYOP developmental regression; developmental delay/intellectual disability; seizures; no movement disorder, occasional facial grimacing; MRI brain bilateral symmetrical atrophy and high-signal intensity involving posterior and lateral putamen, exaggerated iron deposition at the bilateral globus pallidus and substantia nigra; no hyperammonemia; ECG normal 1 1 Johan den Dunnen
00431222 Fam3Pat3 PubMed: Almannai 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - MYOP no developmental regression; no developmental delay/intellectual disability; no seizures; no movement disorder; no hyperammonemia 1 1 Johan den Dunnen
00431223 Fam4Pat4 PubMed: Almannai 2018 2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives M yes Saudi Arabia - - - - - MYOP no developmental regression; no developmental delay/intellectual disability; no seizures; chorioathetosis, dystonia; MRI brain normal; no hyperammonemia; ECG dilated left ventricle, reduced left ventricular ejection fraction 1 4 Johan den Dunnen
00431224 Fam4Pat5 PubMed: Almannai 2018 brother M yes Saudi Arabia - - - - - MYOP no developmental regression; no developmental delay/intellectual disability; no seizures; no movement disorder; no hyperammonemia 1 1 Johan den Dunnen
00431225 Fam4Pat6 PubMed: Almannai 2018 sister F yes Saudi Arabia - - - - - MYOP no developmental regression; no developmental delay/intellectual disability; no seizures; no movement disorder; no hyperammonemia 1 1 Johan den Dunnen
00431226 Fam4Pat7 PubMed: Almannai 2018 brother M yes Saudi Arabia - - - - - MYOP no developmental regression; no developmental delay/intellectual disability; no seizures; no movement disorder; MRI brain normal; no hyperammonemia 1 1 Johan den Dunnen
00431227 Fam5Pat8 PubMed: Almannai 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - MYOP no developmental regression; mild developmental delay/intellectual disability; no seizures; ataxia; MRI brain bilateral, symmetrical T2 hyperintensity and atrophy posterior and lateral putamen; no hyperammonemia; ECG normal 1 1 Johan den Dunnen
00431228 Fam6Pat9 PubMed: Almannai 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - MYOP developmental regression; developmental delay/intellectual disability; no seizures; no movement disorder; MRI brain bilateral symmetrical T2 hyperintensity corpus striatum; no hyperammonemia; ECG normal 1 2 Johan den Dunnen
00431229 Fam6Pat10 PubMed: Almannai 2018 sister F yes Saudi Arabia - - - - - MYOP developmental regression; developmental delay/intellectual disability; no seizures; dystonia; MRI brain normal; ECG normal 1 1 Johan den Dunnen
00431230 Fam7Pat11 PubMed: Almannai 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - MYOP no developmental regression; developmental delay/intellectual disability; seizures; dystonia; MRI brain bilateral abnormal high-signal intensity, atrophy putamina bilaterally; no hyperammonemia; ECG ventricular septal defect, repaired 1 1 Johan den Dunnen
00431231 Fam8Pat12 PubMed: Almannai 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - MYOP no developmental regression; no developmental delay/intellectual disability; no seizures; no movement disorder; hyperammonemia 199 umol/L 1 1 Johan den Dunnen
00431232 Pat1 PubMed: Isuo 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - EE see paper 1 1 Johan den Dunnen
00431233 Pat2;R63087 PubMed: Isuo 2019, PubMed: Yepez 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - - - - - EE see paper; ..., basal ganglia abnormality MRI, muscle weakness, myopathy, rhabdomyolysis, neurodevelopmental delay, seizures,infection related deterioration, elevated lactate 1 1 Johan den Dunnen
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