All individuals with variants in gene HNF1B

446 entries on 5 pages. Showing entries 1 - 100.
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00132984 29100090-FamDC6 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - M - - - - - - - CAKUT CAKUT, multicystic dysplastic kidney bilateral, vesicoureteral reflux; epispadia 1 1 Johan den Dunnen
00208750 - PubMed: Kato 2018 - M ? Japan - - - - insulin RCAD;MODY5 Hyperglycemia (HP:0003074), renal cyst (HP:0000107), elevated hemoglobin A1c (HP:0040217), glycosuria (HP:0003076) 1 1 Jilani Jawaid
00218064 Proband-Fam PubMed: Kim 2014 Proband and affected father. Paternal grandmother was affected by diabetes mellitus type II. F ? Korea - - - - insulin RCAD;MODY5 Hyperglycemia HP:0003074 1 2 Jilani Jawaid
00231052 - - - M - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231053 - - - M - - - - - - - ? kidney hypoplasia; bilateral kidney anomalies; special educational needs 1 1 Vincent Guigonis
00231054 - - - M - - - - - - - ? kidney hypoplasia; bilateral kidney anomalies 1 1 Vincent Guigonis
00231055 - - - M - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231056 - - - F - - - - - - - ? hyperechogenic kidney; 1 1 Vincent Guigonis
00231057 - - - M - - - - - - - CAKUT - 1 1 Vincent Guigonis
00231058 - - - F - - - - - - - ? renal cysts 1 1 Vincent Guigonis
00231059 - - - M - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231060 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231061 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; 1 1 Vincent Guigonis
00231062 - - - F - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231063 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231064 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231065 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231066 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; kidney hypoplasia; bilateral kidney anomalies 1 1 Vincent Guigonis
00231067 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231068 - - - F - - - - - - - ? multicystic dysplasia; hyperechogenic kidney; 1 1 Vincent Guigonis
00231069 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231070 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231071 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231072 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231073 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231074 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231075 - - - M - - - - - - - ? renal cysts; bilateral kidney anomalies 1 1 Vincent Guigonis
00231076 - - - M - - - - - - - ? multicystic dysplasia; renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231077 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231078 - - - M - - - - - - - ? multicystic dysplasia; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231079 - - - F - - - - - - - CAKUT - 1 1 Vincent Guigonis
00231080 - - - F - - - - - - - CAKUT - 1 1 Vincent Guigonis
00231081 - - - F - - - - - - - ? multicystic dysplasia; renal cysts; bilateral kidney anomalies 1 1 Vincent Guigonis
00231082 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231083 - - - M - - - - - - - ? kidney hypoplasia; bilateral kidney anomalies; special educational needs 1 1 Vincent Guigonis
00231084 - - - M - - - - - - - ? renal cysts; bilateral kidney anomalies 1 1 Vincent Guigonis
00231085 - - - F - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231086 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231087 - - - F - - - - - - - ? hyperechogenic kidney; kidney hypoplasia; bilateral kidney anomalies 1 1 Vincent Guigonis
00231088 - - - M - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231089 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231090 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231091 - - - M - - - - - - - ? multicystic dysplasia; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231092 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231093 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231094 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231095 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231096 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231097 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231098 - - - M - - - - - - - ? multicystic dysplasia; renal cysts; hyperechogenic kidney; bilateral kidney anomalies; special educational needs 1 1 Vincent Guigonis
00231099 - - - M - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies; special educational needs 1 1 Vincent Guigonis
00231100 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; kidney hypoplasia; bilateral kidney anomalies 1 1 Vincent Guigonis
00231101 - - - F - - - - - - - ? renal agenesis; bilateral kidney anomalies 1 1 Vincent Guigonis
00231102 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231103 - - - M - - - - - - - CAKUT - 1 1 Vincent Guigonis
00231104 - - - F - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231105 - - - F - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231106 - - - F - - - - - - - ? multicystic dysplasia; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231107 - - - F - - - - - - - ? multicystic dysplasia; 1 1 Vincent Guigonis
00231108 - - - M - - - - - - - ? kidney hypoplasia; bilateral kidney anomalies 1 1 Vincent Guigonis
00231109 - - - M - - - - - - - ? multicystic dysplasia; 1 1 Vincent Guigonis
00231110 - - - M - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231111 - - - F - - - - - - - ? renal cysts; bilateral kidney anomalies 1 1 Vincent Guigonis
00231112 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies; special educational needs 1 1 Vincent Guigonis
00231113 - - - M - - - - - - - ? renal cysts; bilateral kidney anomalies 1 1 Vincent Guigonis
00231114 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231115 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; 1 1 Vincent Guigonis
00231116 - - - F - - - - - - - ? renal cysts; bilateral kidney anomalies 1 1 Vincent Guigonis
00231117 - - - F - - - - - - - ? renal cysts; bilateral kidney anomalies 1 1 Vincent Guigonis
00231118 - - - M - - - - - - - ? renal cysts; bilateral kidney anomalies 1 1 Vincent Guigonis
00231119 - - - M - - - - - - - ? renal cysts; bilateral kidney anomalies 1 1 Vincent Guigonis
00231120 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231121 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231122 - - - F - - - - - - - ? multicystic dysplasia; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231123 - - - M - - - - - - - ? multicystic dysplasia; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231124 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231125 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; kidney hypoplasia; bilateral kidney anomalies 1 1 Vincent Guigonis
00231126 - - - F - - - - - - - ? multicystic dysplasia; renal cysts; bilateral kidney anomalies 1 1 Vincent Guigonis
00231127 - - - F - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231128 - - - M - - - - - - - ? renal cysts; kidney hypoplasia; bilateral kidney anomalies; special educational needs 1 1 Vincent Guigonis
00231129 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231130 - - - F - - - - - - - ? multicystic dysplasia; kidney hypoplasia; bilateral kidney anomalies 1 1 Vincent Guigonis
00231131 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231132 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231133 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231134 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; kidney hypoplasia; bilateral kidney anomalies 1 1 Vincent Guigonis
00231135 - - - F - - - - - - - ? multicystic dysplasia; renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231136 - - - M - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231137 - - - M - - - - - - - ? multicystic dysplasia; renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231138 - - - M - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231139 - - - M - - - - - - - ? multicystic dysplasia; 1 1 Vincent Guigonis
00231140 - - - F - - - - - - - ? bilateral kidney anomalies 1 1 Vincent Guigonis
00231141 - - - M - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231142 - - - F - - - - - - - ? multicystic dysplasia; renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231143 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231144 - - - M - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231145 - - - F - - - - - - - ? renal cysts; bilateral kidney anomalies 1 1 Vincent Guigonis
00231146 - - - F - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231147 - - - M - - - - - - - ? hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
00231148 - - - F - - - - - - - ? renal cysts; hyperechogenic kidney; bilateral kidney anomalies 1 1 Vincent Guigonis
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