All individuals with variants in gene PIGB

10 entries on 1 page. Showing entries 1 - 10.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00240361 - PubMed: Murakami 2019, Journal: Murakami 2019 - F - - - - 0 - - DOORS DD/ID, Seizures, Dysmorphic features, Deafness, Ophthalmological anomalies, Hand and feet anomalies, Brain MRI or CT anomalies, 2-oxoglutaric aciduria increase 2 1 Philippe Campeau
00240373 - PubMed: Murakami 2019, Journal: Murakami 2019 - M - - - - 0 - - ? DD/ID, Seizures, Deafness, Ophthalmological anomalies 2 1 Philippe Campeau
00240374 - PubMed: Murakami 2019, Journal: Murakami 2019 - F - - - - 0 - - ? DD/ID, Seizures, Dysmorphic features, Deafness, Ophthalmological anomalies, Hand and feet anomalies, Brain MRI or CT anomalies, Elevated serum alkaline phosphatase 1 1 Philippe Campeau
00240375 - PubMed: Murakami 2019, Journal: Murakami 2019 - - - - - - 0 - - ? DD/ID, Seizures, Elevated serum alkaline phosphatase 1 1 Philippe Campeau
00240376 - PubMed: Murakami 2019, Journal: Murakami 2019 - - - - - - 0 - - ? DD/ID, Seizures, Dysmorphic features, Hand and feet anomalies, Elevated serum alkaline phosphatase 2 1 Philippe Campeau
00240377 - PubMed: Murakami 2019, Journal: Murakami 2019 - - - - - - 0 - - ? DD/ID, Seizures, Dysmorphic features, Ophthalmological anomalies, Elevated serum alkaline phosphatase 1 1 Philippe Campeau
00240470 - PubMed: Murakami 2019, Journal: Murakami 2019 - - - - - - 0 - - ? DD/ID, Seizures, Dysmorphic features, Deafness, Ophthalmological anomalies, Hand and feet anomalies, Brain MRI or CT anomalies, Elevated serum alkaline phosphatase 1 1 Philippe Campeau
00240471 - PubMed: Murakami 2019, Journal: Murakami 2019 - - - - - - 0 - - ? Seizures, Dysmorphic features, Hand and feet anomalies, Brain MRI or CT anomalies 1 1 Philippe Campeau
00244445 - PubMed: Murakami 2019, Journal: Murakami 2019 - - - - - - 0 - - ? DD/ID and Seizures 1 1 Philippe Campeau
00244446 - PubMed: Murakami 2019, Journal: Murakami 2019 - - - - - - 0 - - ? DD/ID, Seizures, Dysmorphic features, Deafness, Hand and feet anomalies, Brain MRI or CT anomalies, and Elevated serum alkaline phosphatase 1 1 Philippe Campeau
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