All individuals with variants in gene OGDHL

25 entries on 1 page. Showing entries 1 - 25.
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00150210 26539891-FamBAB4852 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, CCA, microcephaly, cerebral palsy, puberty precocious, zygo-clinodactyly 1 1 Johan den Dunnen
00269609 ?;Fam9PatIV8 PubMed: Doll 2020, PubMed: Lin 2023, Journal: Lin 2023 sister F yes Iran - - - - - DFNB32 Congenital onset, severe-to-profound hearing loss 1 1 Barbara Vona
00290054 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 10 Mohammed Faruq
00296261 Pat4;Fam10Pat12 PubMed: Tan 2020, Journal: Tan 2020, PubMed: Lin 2023, Journal: Lin 2023 2-generation family, 1 affected, unaffected parents M yes Iran Azari - - - - ? no prenatal structural anomalies; no complications during pregnancy or delivery; birth 38w gestation, length 50 cm (−4.3 SD), weight 3600 g (+0.51 SD), head circumference in normal range; length 114 cm (−4.3 SD), weight 20 kg (−4.1 SD), head circumference 49 cm (−3.3 SD); motor delay; nonverbal; profound intellectual disability; epilepsy, global developmental delay, axial hypotonia with appendicular hypertonia and distal contractures, muscle atrophy, repetitive movements of right hand and neck; MRI 3y-brain atrophy in temporal lobes; EEG focal and generalized epileptiform discharges; 7y-intractable generalized seizures with increased frequency from once a month to once every 15d; no behavioral problems; no sleep disturbance; non-dysmorphic face; normal hearing; cortical blindness; no abnormality heart; no abnormality respiratory system; feeding difficulties; no abnormality urogenital system; no abnormality skin/hair/nails; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system 1 1 Barbara Vona
00385786 Fam1Pat1 PubMed: Yap 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Iran - - - - - NEDIDHA HP:0011342; HP:0002069; HP:0002066; HP:0008619; HP:0000505 1 2 Simone Seiffert
00385787 Fam1Pat2 PubMed: Yap 2021 sister F yes Iran - - - - - NEDIDHA HP:0011342; HP:0002066; HP:0008619 1 1 Simone Seiffert
00385788 Fam2Pat3 PubMed: Yap 2021 - M no Italy - - - - - NEDIDHA HP:0011342; HP:0010535; HP:0000338; HP:0000488; HP:0011476; HP:0002066; HP:0002650; HP:0001761 2 1 Simone Seiffert
00385790 Fam3Pat4 PubMed: Yap 2021 - M no Germany - - - - - NEDIDHA HP:0011170; HP:0002069; HP:0002133; HP:0011147 2 1 Simone Seiffert
00385821 Fam4Pat5 PubMed: Yap 2021 - F no Ukraine - - - - - NEDIDHA HP:0001263; HP:0002069; HP:0012469; HP:0001252; HP:0002521; HP:0000639;HP:0000505; HP:0001385 2 1 Simone Seiffert
00385822 Fam5Pat6 PubMed: Yap 2021 - M yes Pakistan - - - - - NEDIDHA HP:0001263; HP:0001249; HP:0011153; HP:0002069; HP:0002510; HP:0000648; HP:0000218; HP:0002650; HP:0000252; HP:0006970; HP:0002079 1 1 Simone Seiffert
00385823 Fam6Pat7 PubMed: Yap 2021 - M yes Syria - - - - - NEDIDHA HP:0001256; HP:0030799; HP:0009733 1 1 Simone Seiffert
00385824 Fam7Pat8 PubMed: Yap 2021 - M yes Iran - - - - - NEDIDHA HP:0002342; HP:0001252; HP:0000639 1 1 Simone Seiffert
00385825 Fam8Pat9 PubMed: Yap 2021 - F yes Iraq - - - - - NEDIDHA HP:0001263; HP:0001249; HP:0001250; HP:0001252; HP:0002066; HP:0000365; HP:0000505; HP:0001488; HP:0000218 1 1 Simone Seiffert
00402879 Fam1PatIV4 PubMed: Lin 2023, Journal: Lin 2023 4-generation family, 1 affected, unaffected heterozygous parents M yes Iran - - - - - NDD - 1 1 Barbara Vona
00402889 Fam2PatIV3 PubMed: Lin 2023, Journal: Lin 2023 4-generation family, 1 affected, unaffected heterozygous parents/relatives F yes Egypt - - - - - NDD - 1 1 Barbara Vona
00402890 Fam3PatII1 PubMed: Lin 2023, Journal: Lin 2023 2-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Sudan - - - - - MPS, neurodegeneration - 1 1 Barbara Vona
00402891 Fam4PatIV2/7 PubMed: Lin 2023, Journal: Lin 2023 4-generation family, affected sister/brother, unaffected heterozygous parents/relatives F yes Syria - - - - - NDD - 1 2 Barbara Vona
00402892 Fam5PatIV1 PubMed: Lin 2023, Journal: Lin 2023 4-generation family, 1 affected, unaffected parents M yes United States African-American - - - - NDD - 1 1 Barbara Vona
00402893 Fam6PatIV1 PubMed: Lin 2023, Journal: Lin 2023 3-generation family, 1 affected, unaffected heterozygous parents M yes Iran - - - - - neurodegeneration - 1 1 Barbara Vona
00402894 Fam7PatIII1 PubMed: Lin 2023, Journal: Lin 2023Lin et al. in preparation 3-generation family, 1 affected, unaffected parents F yes United States Europe - - - - ? - 1 1 Barbara Vona
00402895 Fam8PatIII1 PubMed: Lin 2023, Journal: Lin 2023 2-generation family, 1 affected, unaffected parents M no Germany - - - - - epilepsy - 2 1 Barbara Vona
00402896 ?;Fam9PatIV2 PubMed: Doll 2020, , PubMed: Lin 2023, Journal: Lin 2023 4-generation family, 2 affected sisters, unaffected parents F yes Iran - - - - - DFNB - 1 2 Barbara Vona
00438775 Fam11PatII4 PubMed: Lin 2023, Journal: Lin 2023 2-generation family, affected twin pair F, M), unaffected parents F yes Egypt - - - - - MYOP Myopathy 1 1 Barbara Vona
00438776 Fam12PatII2 PubMed: Lin 2023, Journal: Lin 2023 2-generation family, 1 affected, unaffected parents F yes Iran - - - - - CMH Hypertrophic cardiomyopathy (HCM) + Patent ductus arteriosus (PDA) 1 1 Barbara Vona
00444079 BAB4852 PubMed: Yoon 2017 2-generation family, 1 affected (deceased affected older brother), unaffected heterozygous parents/relatives F - United States Turkey - - - - NDD see paper; ..., severe developmental delay, cerebral and cerebellar atrophy, corpus callosum abnormality 1 1 Johan den Dunnen
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