All individuals with variants in gene RARS2

27 entries on 1 page. Showing entries 1 - 27.
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00003020 - PubMed: Neveling 2013 - - - - - - - - - ? PMR, autism, ataxia 2 1 Marcel Nelen
00004531 - - - - no - - - - - - PCH6 neonatal lactic acidosis, hypotonia, developmental delay, seizures, cortical atrophy, pontocerebellar hypoplasia on MRI 2 1 Carl Fratter
00004532 - - - - no - - - - - - PCH6 neonatal lactic acidosis, developmental delay, microcephaly, cortical atrophy, pontocerebellar hypoplasia on MRI 2 1 Carl Fratter
00050461 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? optic atrophy, seizures, preauricular skin tag, global developmental delay, bruxism, neonatal hypotonia, generalized myoclonic seizures, cryptorchidism, seizures, global developmental delay, blindness, pontocerebellar hypoplasia, abnormality of the thalamus 2 1 Johan den Dunnen
00150158 26539891-FamBAB5804 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, CCH, atrophy of bilateral cerebellum, hypoplastic vermis, seizures 1 2 Johan den Dunnen
00234052 - - - - - - - - - - - PCH6 severe developmental delay, seizures, microcephaly 2 1 Carolina Courage
00269475 - PubMed: Minardi 2020 - - - - - - - - - EE epileptic encephalopathy (HP:0200134) 2 1 Francesca Bisulli
00274175 Pat41 PubMed: Pronicka 2016 2-generation family, 2 affected brothers F - Poland - - - - - ? involvement basal ganglia; mitochondrial disease criteria score 4; muscle biopsy 2 1 Johan den Dunnen
00294214 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 233 Mohammed Faruq
00294215 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00303043 Pat88 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile 2 1 Johan den Dunnen
00305120 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00306853 - - - M no Italy - - - - - PCH6 neurodevelopmental delay. myoclonic seizures, , axial hypotonia with distal hypertonia, microcephaly, mixed hearing loss, abnormal breathing pattern, cryptorchidism 2 1 Enza Maria Valente
00334933 PME12 PubMed: Courage 2021, Journal: Courage 2021 family, 2 affected (F, M) F no Italy - - - - - PCH6 Sibling -pair with childhood onset mild progressive ataxia, mild predominantly upper limb action myoclonus, occasional TCS and absence seizures. Childhood onset cognitive impairment diagnosed prior to onset of myoclonus and ataxia. MRI unremarkable. 2 2 Carolina Courage
00334935 PME13 PubMed: Courage 2021, Journal: Courage 2021 relative of PME12 M no Italy - - - - - PCH6 see sib 2 1 Carolina Courage
00334936 PME14 PubMed: Courage 2021, Journal: Courage 2021 - F no Italy - - - - - PCH6 Onset 25 years of prominent progressive action myoclonus. Normal developmental history, normal cognition. No ataxia, no TCS. Scoliosis and ovarian insufficiency. 2 1 Carolina Courage
00395953 patient PubMed: Razaq 2021 - M no United States Middle East;Hispanic - - - - BMD/DMD, WEST 4m-epileptic spasms, no head control; 5m-EEG hypsarrhythmia; 9m-severe developmental delay; MRI brain cortical atrophy; 18m-raised CK 25,000, 20m- 1 1 Johan den Dunnen
00428770 Pat24 PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 2 affected, boy and affected carrier mother M - - - - - - - NDD see paper; ..., speech delay, motor delay, intellectual disability, autistic traits, no behavioral problems, dysmorphism, no genitourinary anomalies; mother ADHD, history of delays 1 2 Johan den Dunnen
00431834 SIDS013 - - M - Switzerland Europe 00y03m - - - SIDS SIDS 1 1 Cordula Haas
00431879 SIDS083 - - M - Switzerland Europe 00y04m - - - SIDS SIDS 1 1 Cordula Haas
00431889 SIDS226 - - F - Switzerland Europe 00y02m - - - SIDS SIDS 1 1 Cordula Haas
00438284 Pat2 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0001321 cerebellar hypoplasia 2 1 Johan den Dunnen
00438293 Pat11 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0002353 eeg abnormality; HP:0006872 cerebral hypoplasia 2 1 Johan den Dunnen
00438411 Pat130 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures 1 1 Johan den Dunnen
00454701 NGSP90 PubMed: Legati 2016 - M - - - - - - - mitochondrial pshycomotor delay, respiratory distress, microcephaly, epilepsy, pontocerebellar hypoplasia 2 1 Daniele Ghezzi
00469284 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469285 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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