All individuals with variants in gene IVD

22 entries on 1 page. Showing entries 1 - 22.
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AscendingIndividual ID     

ID_report     

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Consanguinity     

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VIP     

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Owner     
00000068 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000124 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - 2 1 Ivo F.A.C. Fokkema
00000125 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - 2 1 Ivo F.A.C. Fokkema
00000126 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - 1 1 Ivo F.A.C. Fokkema
00000127 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - 2 1 Ivo F.A.C. Fokkema
00000128 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - 1 1 Ivo F.A.C. Fokkema
00000129 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - 2 1 Ivo F.A.C. Fokkema
00000130 - PubMed: Vockley et al (2000) Other IVD allele unknown; no RNA detected but no second variant found in exon region or exon/intron boundaries. - - - - - - - - IVA - 1 1 Ivo F.A.C. Fokkema
00050436 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - - Decipher - ? semilobar holoprosencephaly, seizures, intellectual disability profound, central diabetes insipidus, chronic metabolic acidosis, hypotelorism 1 2 Johan den Dunnen
00291187 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291188 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00446575 patient PubMed: Zhu 2025 - M no China China - - - - IVA elevated isovaleryl carnitine, infantile hypotonia, severe neurodevelopmental disorder, patent ductus arteriosus, cryptorchidism, obesity, distinctive facial features, 2 1 Ke Wu
00450320 3bINP-003 PubMed: Vela-Amieva 2024 Parents with likely consanguinity and consanguinity (not molecularly tested) M likely Mexico Mexican - - - - IVA Delayed speech and language development, Neonatal sepsis, Metabolic acidosis, Deep palmar crease 1 1 Miriam Erandi Reyna-Fabián
00450322 3bINP-005 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - IVA Lumbar hemivertebrae 1 1 Miriam Erandi Reyna-Fabián
00451363 3bINP-019 PubMed: Vela-Amieva 2024 Likely consanguinity F no Mexico Mexican - - - - IVA Moderate intellectual disability, seizures, Mongolian blue spot 1 1 Miriam Erandi Reyna-Fabián
00451600 3bINP-057 PubMed: Vela-Amieva 2024 Likely consanguinity F no Mexico Mexican - - - - IVA Hyperactivity, cupped ear 1 1 Miriam Erandi Reyna-Fabián
00451643 3bINP-079 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - IVA Severe intellectual disability 1 1 Miriam Erandi Reyna-Fabián
00452256 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00452257 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00452258 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00453621 Pat37 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453622 Pat38 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
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