All individuals with variants in gene CNKSR2

20 entries on 1 page. Showing entries 1 - 20.
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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
00173250 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173487 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173535 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00180272 - - - M - (Germany) - - - - - ? Global developmental delay (HP:0001263); Autism (HP:0000717); Bipolar affective disorder (HP:0007302) 1 1 IMGAG
00438340 Pat58 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures 1 1 Johan den Dunnen
00443879 FamEPatIII2 PubMed: Chatron 2020 3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives M yes Turkey - - - - - DEE see paper; ..., 1m-epileptic spasms; 2m-seizure-free; EEG at onset hypsarrhythmic; axial hypotonia, spasticity; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain 50d-normal, CT 2m-atlanto-axial anomaly, minimal hydrocephalus 1 2 Johan den Dunnen
00443880 FamEPatIII1 PubMed: Chatron 2020 brother M yes Turkey - 9d - - - DEE see paper; ..., 9d-deceased; 1d-myoclonic seizure; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; cranial ultrasound germinal matrix haemorrhage 1 1 Johan den Dunnen
00465597 328324 - - F no Germany - - - - - MRXSHG Global developmental delay, Delayed speech and language development, Seizure 1 1 Andreas Laner
00465608 Fam1Pat1 PubMed: Vaags 2014 2-generation family, 2 affected brothers, unaffected carrier mother M - Canada - - - - - ID see paper; ..., intellectual disability; 2y-seizures; no sleep disorder; MRI brain normal; EEG sleep continuous spike-and-slow-waves; speech multiple words, loss most of speech with seizure onset; attention problems; hyperactivity; psychomotor delay; 21m-walk 1 2 Johan den Dunnen
00465609 Fam1Pat2 PubMed: Vaags 2014 brother M - Canada - - - - - ID see paper; ..., intellectual disability; 2y-seizures; nocturnal wakening, difficulty sleeping thereafter; MRI brain normal; EEG sleep continuous spike-and-slow-waves; speech multiple words, complete loss of speech with seizure onset, 8y-no speech; attention problems; hyperactivity; psychomotor delay; 27m-walk 1 1 Johan den Dunnen
00465610 Fam2Pat3 PubMed: Vaags 2014 2-generation family, 1 affected, unaffected carrier mother M - Norway - - - - - ID see paper; ..., intellectual disability; 2y6m-seizures; nocturnal wakening with screaming; MRI brain normal; 7y-EEG sleep continuous spike-and-slow-waves; 8y-short speech, mostly echolalic phrases; attention problems; hyperactivity; psychomotor delay; 18m-walk 1 1 Johan den Dunnen
00465611 Fam3Pat4 PubMed: Vaags 2014 2-generation family, 2 affected brothers, unaffected carrier mother M - France - - - - - ID see paper; ..., intellectual disability; 8d-seizures; 7m-frequent nocturnal wakening; MRI brain nonspecific periventricular white matter hyperintensity; 12y-EEG sleep no continuous spike-and-slow-waves; 12y-speech single words; attention problems; hyperactivity; psychomotor delay; 24m-walk 1 2 Johan den Dunnen
00465612 Fam3Pat5 PubMed: Vaags 2014 brother M - France - - - - - ID see paper; ..., intellectual disability; no seizures; no sleep disorder; MRI brain normal; 12y-EEG sleep no continuous spike-and-slow-waves; 1y-speech multiple words, 15m-abrupt loss of speech, 13y-single words; attention problems; hyperactivity; psychomotor delay; 20m-walk 1 1 Johan den Dunnen
00465613 Fam4Pat6:FamP180 PubMed: Vaags 2014, PubMed: Hu 2016 2-generation family, 3 affected brothers, unaffected carrier mother M - France - - - - - ID see paper; ..., intellectual disability; seizures, treated with phenobarbital until 8y; speech near absent, few words; attention problems; hyperactivity in childhood, now calm; psychomotor delay; 20m-walk 1 3 Johan den Dunnen
00465614 Fam4Pat7 PubMed: Vaags 2014 brother M - France - - - - - ID see paper; ..., intellectual disability; febrile seizures; MRI brain minor cortical atrophy; speech very limited, no multiple words; attention problems; hyperactivity in childhood, now calm; psychomotor delay; 1 1 Johan den Dunnen
00465615 Fam4Pat8 PubMed: Vaags 2014 brother M - France - - - - - ID see paper; ..., intellectual disability; neonatal onset seizures; 2y-speech multiple words, subsequent loss, 62y-no speech; attention problems; hyperactivity in childhood, now calm; psychomotor delay; 18m-walk 1 1 Johan den Dunnen
00465616 family PubMed: Damiano 2017 3-generation family, 5 affected (2F, 3M) F;M - Australia jew-Ashkenazi - - - - epilepsy see paper; ..., mother febrile seizures; uncle febrile seizures, epileptic encephalopathy with continuous spike-waves in sleep; 2 brothers epileptic encephalopathy with continuous spike-waves in sleep; sister childhood epilepsy with centrotemporal spikes 1 5 Johan den Dunnen
00465617 patient PubMed: Aypar 2015 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - ID see paper; ..., 7y-medically intractable focal seizures, developmental delay; birth at term, spontaneous vaginal delivery, weight 3118 g (25th centile); slow achieving milestones, no regression; 1y-sit, 2y-walk; developmental delay; speech delay; intellectual disability; epilepsy/seizures; no microcephaly 1 1 Johan den Dunnen
00465618 patient PubMed: Houge 2012 2-generation family, 1 affected, unaffected carrier mother M - Norway - - - - - ID see paper; ..., developmental delay; speech delay; mild-moderate intellectual disability; epilepsy/seizures; borderline microcephaly; attention deficit hyperactivity disorder 1 1 Johan den Dunnen
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