All individuals with variants in gene KANK1

9 entries on 1 page. Showing entries 1 - 9.
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00050559 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay 1 2 Johan den Dunnen
00150152 26539891-FamBAB5737 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - ? intellectual diability, cerebral atrophy, CCD, hypotonia, hyperpigmentation on facial skin 1 1 Johan den Dunnen
00229779 FamFMTCE3/Fam3 PubMed: van Rootselaar 2017, PubMed: Florion 2019 5-generation family, 18 affected F;M no Netherlands - - 0 - - FAME see paper; ..., tremulous movements, either in combination with electrophysiologic features of cortical reflex myoclonus including giant-somatosensory evoked potential and long latency reflex, or in combination with history of generalized epileptic seizures, and exclusion of other causes of tremor/myoclonus/epilepsy 1 18 Johan den Dunnen
00294876 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 18 Mohammed Faruq
00294877 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 14 Mohammed Faruq
00294878 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 42 Mohammed Faruq
00303303 Pat8 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - 0 - - NDD height 136 cm (SD −1.69), weight 38.2kg (SD −0.14), OFC 55 cm (SD 0.54); learning difficulties; 14m-15m-walk; 2y-3y-first words, 11y-speech 20 words; no regression; 18m-intractable seizures; MRI white matter changes, cerebellar atrophy; muscular hypertonia; self-injurous, aggression; bilateral ankle rotation, pectus excavatum; delayed teeth eruption 1 1 Johan den Dunnen
00307746 UK10K_FINDWGA5410746 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00307747 UK10K_FINDWGA5411454 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
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