All individuals with variants in gene DNAJC12

33 entries on 1 page. Showing entries 1 - 33.
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00180961 - Journal: Gallego 2020 - M - Spain - - - - - HPANBH4 hyperphenylalaninemia (HP:0004923) 1 1 Belen Perez
00275529 FamAPatIV2 PubMed: Anikster 2017 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Morocco - - - - - HPA hyperphenylalaninemia; no developmental delay/intellectual disability; dystonia; no speech delay; axial hypotonia; no limb hypertonia; no Parkinsonism; nystagmus; no oculogyric crisis; no attention difficulties; no autistic features 1 2 Johan den Dunnen
00275530 FamAPatIV4 PubMed: Anikster 2017 - F yes Morocco - - - - - HPA hyperphenylalaninemia; no developmental delay/intellectual disability; no dystonia; no speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; no autistic features 1 1 Johan den Dunnen
00275531 FamBPatIV1 PubMed: Anikster 2017 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes - Arab-Muslim - - - - HPA hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; no speech delay; no axial hypotonia; no limb hypertonia; Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; no autistic features 1 2 Johan den Dunnen
00275532 FamBPatIV2 PubMed: Anikster 2017 - M yes - Arab-Muslim - - - - HPA hyperphenylalaninemia; no developmental delay/intellectual disability; no dystonia; no speech delay; no axial hypotonia; limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; attention difficulties; no autistic features 1 1 Johan den Dunnen
00275533 FamCPatII2 PubMed: Anikster 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - HPA hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; oculogyric crisis; no attention difficulties; no autistic features 1 1 Johan den Dunnen
00275534 FamDPatIV1 PubMed: Anikster 2017 5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes Morocco - - - - - HPA hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; autistic features 1 1 Johan den Dunnen
00275535 FamPat1A PubMed: van Spronsen 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no Netherlands white - - - - HPA dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; attention difficulties 2 2 Johan den Dunnen
00275536 FamPat1B PubMed: van Spronsen 2017 - F no Netherlands white - - - - HPA no dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties 2 1 Johan den Dunnen
00275537 FamPat2A PubMed: van Spronsen 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - HPA no dystonia; no speech delay; no intellectual disability; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; autistic features 1 2 Johan den Dunnen
00275538 FamPat2B PubMed: van Spronsen 2017 - - yes Saudi Arabia - - - - - HPA no dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; autistic features 1 1 Johan den Dunnen
00275539 FamPat3 PubMed: van Spronsen 2017 - - yes Saudi Arabia - - - - - HPA no dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; autistic features 1 1 Johan den Dunnen
00275540 FamA PubMed: Straniero 2017 2-generation family, affected brother/sister, unaffected parents/relatives F;M - Canada - - - - - PARK see paper; ..., early-onset Parkinsonism 1 2 Johan den Dunnen
00275541 FamB PubMed: Straniero 2017 2-generation family, affected brother/sister, unaffected parents/relatives F;M yes Italy - - - - - PARK see paper; ..., early-onset Parkinsonism 1 2 Johan den Dunnen
00275542 Pat PubMed: de Sain-van der Velden 2018 2-generation family, 2 affected, unaffected parents/relatives M yes Morocco - - - - - HPA see paper; ..., developmental delay, extrapyramidal movement disorder, persistently elevated plasma phenylalanine levels 1 1 Johan den Dunnen
00275543 FamPat1 PubMed: Veenma 2018 2-generation family, affected brothers, unaffected heterozygous carrier parents M yes Afghanistan - - - - - HPA see paper; ... 1 2 Johan den Dunnen
00275544 FamPat2 PubMed: Veenma 2018 - M yes Afghanistan - - - - - HPA see paper; ... 1 1 Johan den Dunnen
00275880 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - 1 1 Johan den Dunnen
00275881 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - 1 1 Johan den Dunnen
00275882 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - 1 1 Johan den Dunnen
00275883 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - 1 1 Johan den Dunnen
00275884 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - 1 1 Johan den Dunnen
00275885 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - 1 1 Johan den Dunnen
00275886 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - 1 1 Johan den Dunnen
00275887 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - 1 1 Johan den Dunnen
00275888 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - 2 1 Johan den Dunnen
00275889 - Journal: Leal 2017 (Abs290) analysis 1036 individuals with hyperphenylalaninemia - - Spain - - - - - HPA - 2 1 Johan den Dunnen
00287088 - Journal: Gallego 2020 - - - - - - - - - HPANBH4 - 2 1 Belen Perez
00287089 - Journal: Gallego 2020 - - - - - - - - - HPANBH4 - 2 1 Belen Perez
00288258 - Journal: Gallego 2020 - - - - - - - - - HPANBH4 - 2 1 Belen Perez
00420034 HPA-55 PubMed: Luo 2023 - M no China - - - - - PKU MHP, phe at diagnosis=2.8mg/dl 2 1 Xiaomei Luo
00420037 HPA-58 PubMed: Luo 2023 - F no China - - - - - PKU MHP, phe at diagnosis=6.3mg/dl 2 1 Xiaomei Luo
00453712 Pat139 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 2 1 Johan den Dunnen
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