All individuals with variants in gene KIAA2022

34 entries on 1 page. Showing entries 1 - 34.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00134049 - - - M - (Germany) - - - - - ? Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Stereotypy (HP:0000733) 1 1 IMGAG
00164432 - - - M - (Germany) - - - - - ? Intellectual disability, severe (HP:0010864); Generalized-onset seizure (HP:0002197); Developmental regression (HP:0002376); Spastic tetraplegia (HP:0002510) 1 1 IMGAG
00172315 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172316 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00172317 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00172318 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00172319 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183157 25644381-FamN186 PubMed: Hu 2016 family, 2 affected, 4 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00269519 - PubMed: Minardi 2020 - F - Italy - - - - - EE Epileptic Encephalopathy (HP:0200134) 1 1 Francesca Bisulli
00269605 - - - F - - - - - - - - Global developmental delay (HP:0001263); Generalized seizures (HP:0002197) 1 1 Andreas Laner
00289294 - - - F - - - - - - - ? Seizures (HP:0001250); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Obesity (HP:0001513); Increased body weight (HP:0004324); Behavioral abnormality (HP:0000708); Autistic behavior (HP:0000729) 1 1 Andreas Laner
00295093 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00299439 - - - F - - - - - - - ? Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638) 1 1 Andreas Laner
00305317 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00305986 Pat17 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected parents F - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00314883 Trio54 PubMed: Zhu 2015 - F - Israel - - - - - ? Myoclonic epileptic encephalopathy, coarse features, hypothyroidism, ataxia, mild hypotonia, acquired microcephaly, intellectual disability. 1 1 Johan den Dunnen
00374355 S-1375 PubMed: Ganapathy 2019 - - - India - - - - - ? Features suggestive of Rett syndrome 1 1 Johan den Dunnen
00392041 212P - - F no Spain - - - - - XLID98;MRX98 - 1 1 Alejandro Brea-Fernández
00419213 207046 - - F no Germany - - - - - XLID98;MRX98 Intellectual disability, Depression, Behavioral abnormality, Nevus flammeus, Focal impaired awareness seizure 1 1 Andreas Laner
00419223 207225 - - M no Germany - - - - - XLID98;MRX98 Global developmental delay, Delayed gross motor development, Hypotonia, Cerebral calcification, Behavioral abnormality 1 1 Andreas Laner
00419588 20022 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00438663 HSJ0520 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00448480 - - - M no Spain - - - - - ID HPO: HP:0002104 Apnea, HP:0000028, Cryptorchidism, HP:0001263 Global developmental delay, HP:0001252 Hypotonia, HP:0000252 Microcephaly, HP:0001270 Motor delay. 1 1 Maria Elena García Paya
00448670 - - - M no Spain - - - - - XLID98;MRX98 HP:0002104Apnea HP:0000028 Cryptorchidism HP:0001263 Global developmental delay HP:0001252 Hypotonia HP:0000252 Microcephaly HP:0001270 Motor delay Gastroesophageal reflux HP:0002020 1 1 Maria Elena García Paya
00449748 - - - F - - (not applicable) white - - - - ID HP:0001250, HP:0002123, HP:0010819, HP:0002342, HP:0001007, HP:0001513, HP:0000168 1 1 Marketa Wayhelova
00455805 Pat45 PubMed: Salinas 2020 patient F - - - - - - - ? - 1 1 Johan den Dunnen
00458265 - - - F - - (not applicable) white - - - - NDD HP:0007018, HP:0002487, HP:0010864, HP:0000750, HP:0032794, HP:0000708 1 1 Marketa Wayhelova
00466228 18436 - - F no Croatia (Hrvatska) - - - - - XLID98;MRX98 Delayed psychomotor development, mild to severe, Mental retardation, Poor or absent speech acquisition, Generalized seizures, EEG abnormalities 1 1 Andreas Laner
00467280 CMH146 PubMed: Soden 2014 family, 1 affected - - United States - - - - - ? - 1 1 Johan den Dunnen
00469029 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469030 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469031 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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