All individuals with variants in gene OBSL1

11 entries on 1 page. Showing entries 1 - 11.
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AscendingIndividual ID     

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Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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Owner     
00050508 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? coarse hair, cupped ear, downslanted palpebral fissures, global developmental delay, prominent occiput, frontal bossing, increased body weight, soft doughy skin, thin upper lip vermilion, smooth philtrum, tapered finger, pes planus 2 1 Johan den Dunnen
00292612 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00292613 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 12 Mohammed Faruq
00292614 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 61 Mohammed Faruq
00295469 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00331533 09DG00617 PubMed: Maddirevula 2018 isolated case F yes - Arab - 0 - - skeletal dysplasia Short stature, Joint laxity 1 1 LOVD
00331534 09DG00622 , 09DG00623 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - 0 - - skeletal dysplasia Short stature, Joint laxity 1 2 LOVD
00331535 10DG0406 ,10DG0407 , 10DG0408 PubMed: Maddirevula 2018 family, 3 affected (2F, M) F;M yes - Arab - 0 - - skeletal dysplasia Short stature 1 3 LOVD
00331536 12DG0010 PubMed: Maddirevula 2018 family M yes - Arab - 0 - - skeletal dysplasia Anteverted nares, Depressed nasal bridge, Triangular face, Thin upper lip vermilion 1 1 LOVD
00331537 15DG0323 , 15DG0324 , 16DG0417 PubMed: Maddirevula 2018 family, 3 affected (3M) M yes - Arab - 0 - - skeletal dysplasia Ulcerative colitis, Bloody diarrhea, Short stature, Frontal bossing, Triangular face, Antever No 1 3 LOVD
00375202 - - 5-generation family, 2 affected (1M, 1F), 2 affected individuals are children of consanguineous parents. M yes China Chinese - 0 - - 3M Short stature 1 2 Xiuli Zhao
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