All individuals with variants in gene PET100

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     
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00204778 24462369-A1 PubMed: Lim 2014 2 generation family, consanguineous parents, 1 affected M yes Australia Lebanese 00y08m - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (muscle, fibroblasts, liver), Global developmental delay (HP:0001263), failure to thrive (HP:0001508), seizures (HP:0001250), increased blood and CSF lactate levels (HP:0003128) 1 1 Sze Chern Lim
00205226 24462369-B1 PubMed: Lim 2014 2 generation family, consanguineous parents, 1 affected (first 4 children in the family died within the first year of life without clear diagnoses but all had developmental delay and seizures.) M yes Australia Lebanese 00y08m - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), Global developmental delay (HP:0001263), failure to thrive (HP:0001508), seizures (HP:0001250), elevated blood and CSF lactate levels (HP:0003128) 1 1 Sze Chern Lim
00207012 24462369-C1 PubMed: Lim 2014 2 generation family, non-consanguineous parents, 1 affected F no Australia Lebanese >15y06m - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (muscle, fibroblasts), Elevated serum and CSF lactate levels (HP:0003128), elevated CSF and serum pyruvate (HP:0003542) levels 1 1 Sze Chern Lim
00207013 24462369-D1 PubMed: Lim 2014 2 generation family, consanguineous parents, 2 affected siblings M yes Australia Lebanese >24y - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), Elevated plasma and CSF lactate levels (HP:0003128), profound mental retardation (HP:0002187), seizures (HP:0001250) 1 2 Sze Chern Lim
00207014 24462369-D2 PubMed: Lim 2014 2 generation family, consanguineous parents, 2 affected siblings M yes Australia Lebanese 00y07m - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), seizures (HP:0001250), delayed motor milestones (HP:0001270), increased CSF lactate (HP:0002490) 1 1 Sze Chern Lim
00207418 24462369-E1 PubMed: Lim 2014 2 generation family, non-consanguineous parents, 2 affected siblings M no Australia Lebanese 16y - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), Leigh-like, profound global developmental delay(HP:0001263), hypotonia and seizures (HP:0001250) 1 2 Sze Chern Lim
00207419 24462369-E2 PubMed: Lim 2014 2 generation family, non-consanguineous, 2 affected siblings M no Australia Lebanese >27y - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), seizures (HP:0001250), developmental delay, hypotonia, failure to thrive (HP:0001508), increased blood lactate (HP:0002151) 1 1 Sze Chern Lim
00207420 24462369-F1 PubMed: Lim 2014 2 generation family, consanguineous parents M yes Australia Lebanese >09y08m - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), Lactic acidosis in blood and CSF (HP:0003128), hypotonic, seizures commenced before 8mo, severe hearing deficit and visual impairment 1 1 Sze Chern Lim
00207421 24462369-G1 PubMed: Lim 2014 2 generation family, consanguineous parents F yes Australia Lebanese 00y12m - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts, liver), Leigh-like, developmental delay, hypotonia, seizures, elevated lactic acid and alanine levels in the urine 1 1 Sze Chern Lim
00207422 24462369-H1 PubMed: Lim 2014 2 generation family, consanguineous parents, 1 affected child, 3 unaffected chlidren M yes Australia Lebanese 03y06m - - - LS, MC4DN blood and CSF lactate levels, and blood pyruvate level were elevated. Cranial MRI showed high-intensity signals in the putamen. Poor neurological development with myoclonic spasms, cortical blindness, and feeding difficulties., Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts, muscle and liver) 1 1 Sze Chern Lim
00207423 25293719-73387 PubMed: Oláhová 2015 2 generation family, consanguineous parents, 1 affected child F yes United Kingdom (Great Britain) Pakistani 00y00m02d - - - MC4DN Severe lactic acidosis(HP:0003128), Cranial ultrasound showed bilateral intraventricular cysts within the frontal horns and anterior portions of the lateral ventricles. Severely impaired liver function. 1 1 Sze Chern Lim
00292209 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
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