All individuals with variants in gene CLCNKB

38 entries on 1 page. Showing entries 1 - 38.
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AscendingIndividual ID     
ID_report     
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VIP     
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Treatment     
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Variants     
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Owner     
00080807 - PubMed: Trujillano 2017 no information from parents - - - - - - - - BARTS4B Bartter syndrome type 4B (OMIM:613090) 1 1 Daniel Trujillano
00080887 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - BARTS3 Bartter syndrome, type 4B (OMIM:607364) 1 1 Daniel Trujillano
00177008 69937 - - M yes Sri Lanka - - - - - EE HP:0001252 HP:0001285 HP:0000278 HP:0011369 HP:0010332 1 1 Anaïs Begemann
00206493 - - - F no France - - - - - GTLMNS - 2 1 Rosa Vargas-Poussou
00206494 - - - M - Thailand - - - - - BARTS3 - 1 1 Rosa Vargas-Poussou
00206495 Pat4 PubMed: Bruno 2011, Journal: Bruno 2011 - - - Australia - - - - - BARTS - 1 1 Damien Bruno
00206496 - - - F yes Turkey - - - - - BARTS3 - 1 1 Rosa Vargas-Poussou
00206497 - - - F no France - - - - - BARTS3 - 2 1 Rosa Vargas-Poussou
00206498 - - - M no Morocco - - - - - BARTS3 - 1 1 Rosa Vargas-Poussou
00206499 - - - M yes Algeria - - - - - BARTS3 - 1 1 Rosa Vargas-Poussou
00206500 - - - F ? Comoros - - - - - GTLMNS - 1 1 Rosa Vargas-Poussou
00287164 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - M no Italy - 02y - - - BARTS3 - 1 1 Dr Silvana Tedeschi
00287166 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - F no Italy - - - - - BARTS3 salt wasting, hypokalaemia, metabolic alkalosis, Growth delay, polyhydramnios, asthenia 1 1 Dr Silvana Tedeschi
00287167 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - F no Italy - - - - - BARTS3 Salt wasting, hypokalaemia, metabolic alkalosis,Slight reduction of weight growth, vomit, anorexia, dehydration 2 1 Dr Silvana Tedeschi
00287168 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - F yes Italy - - - - - BARTS3 salt wasting, hypokalaemia, metabolic alkalosis, Asthenia, polydipsia, cramps, tingling, abdominal pain, polyuria, heart problems, tetany, hyperpyrexia 1 1 Dr Silvana Tedeschi
00287169 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - M yes (Albania) - - - - - BARTS3 salt wasting, hypokalaemia, metabolic alkalosis, Slowing growth, vomit, polyuria, anorexia, iperuricemia 1 1 Dr Silvana Tedeschi
00289576 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 100 Mohammed Faruq
00304154 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00320245 PT947 - - - - Japan Asian - - - - BARTS3 - 2 1 Takayasu Mori
00320321 PT471 - - - - Japan Asian - - - - BARTS3 - 2 1 Takayasu Mori
00320323 PT1093 - - - - Japan Asian - - - - BARTS3 - 1 1 Takayasu Mori
00327079 SH257-604 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - DFNB - 2 1 So Young Kim
00361954 Pat28 PubMed: Brochard 2009 patient F - France white - - - - BARTS - 1 1 Johan den Dunnen
00361955 Pat29 PubMed: Brochard 2009 patient M - Tunisia - - - - - BARTS - 1 1 Johan den Dunnen
00361956 Pat30 PubMed: Brochard 2009 patient F - Congo - - - - - BARTS - 1 1 Johan den Dunnen
00361957 Pat31 PubMed: Brochard 2009 patient M - France white - - - - BARTS - 1 1 Johan den Dunnen
00361958 Pat32 PubMed: Brochard 2009 patient - - Morocco - - - - - BARTS - 1 1 Johan den Dunnen
00361959 Pat33 PubMed: Brochard 2009 patient F - France white - - - - BARTS - 1 1 Johan den Dunnen
00395058 K103 PubMed: Zacchia 2021 - ? - (Italy) - - - - - retinal disease - 1 1 LOVD
00395060 K117 PubMed: Zacchia 2021 - ? - (Italy) - - - - - retinal disease - 1 1 LOVD
00430364 - - - - no Korea, South (Republic) Asia-E - - - - SNHL ADHD 1 1 Soyoung Lee
00437088 Pat83 PubMed: Viering 2023, Journal: Viering 2023 patient, no family history F no France - - - - - GTLMNS arythmia and hypokalemia 1 1 Johan den Dunnen
00437122 Pat79 PubMed: Viering 2023, Journal: Viering 2023 - F - France - - - - - GTLMNS - 1 1 Johan den Dunnen
00437131 Pat8 PubMed: Viering 2023, Journal: Viering 2023 - M - France - - - - - GTLMNS - 1 1 Johan den Dunnen
00437132 Pat63 PubMed: Viering 2023, Journal: Viering 2023 - F - France - - - - - GTLMNS - 1 1 Johan den Dunnen
00437133 Pat80 PubMed: Viering 2023, Journal: Viering 2023 - F - France - - - - - GTLMNS - 1 1 Johan den Dunnen
00443875 FamCPatIII1 PubMed: Chatron 2020 3-generation family, affected sister/brother, unaffected heterozygous parents/relatives F yes Turkey - - - - - DEE see paper; ..., 14d-myoclonic seizure; 5m-generalized tonic-clonic seizures; EEG at onset suppression-burst pattern; drug-resistant epilepsy; tetraparesis, increased muscle tonus limbs; conductive hearing loss; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; MRI brain 3y-normal 1 2 Johan den Dunnen
00443876 FamCPatIII2 PubMed: Chatron 2020 brother M yes Turkey - 2y - - - DEE see paper; ..., 2y-deceased; first days of life myoclonic seizure, tonic seizures,generalized tonic-clonic seizures; increasing seizure frequency (type unknown); EEG at onset suppression-burst pattern; drug-resistant epilepsy; tetraparesis, increased muscle tonus limbs; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; MRI brain 1y-normal 1 1 Johan den Dunnen
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