All individuals with variants in gene CAMK2B

13 entries on 1 page. Showing entries 1 - 13.
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00106659 Pat15 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents F no United States - - - - - ID HP:0001249; HP:0000750; HP:0001250; intellectual disability (HP:0001249); speech delay (HP:0000750) 1 1 Sébastien Küry
00106660 Pat16 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents F no United States - - - - - ID HP:0001249; HP:0000750; HP:0001252; HP:0100022; HP:0100851; HP:0000478; HP:0025031; intellectual disability (HP:0001249); speech delay (HP:0000750) 1 1 Sébastien Küry
00106661 Pat17 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents F no United States - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100022; HP:0100851; HP:0001507; HP:0000478; HP:0000271; HP:0000252; HP:0025031; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106662 Pat18 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100851; HP:0001507; HP:0000478; HP:0000271; HP:0025031; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106663 Pat19 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100022; HP:0100851; HP:0001507; HP:0000478; HP:0000271; HP:0000252; HP:0025031; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106664 Pat21 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100851; HP:0001250; HP:0001507; HP:0000478; HP:0000271; HP:0025031; intellectual disability (HP:0001249); mild global developmental delay (HP:0011342); speech delay (HP:0000750) 1 1 Sébastien Küry
00106665 Pat22 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents F no United States - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0000478; HP:0025031; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106666 Pat23 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - ID HP:0001249; HP:0000750; HP:0001252; HP:0100851; HP:0001250; HP:0001507; HP:0000271; HP:0000252; intellectual disability (HP:0001249); speech delay (HP:0000750) 1 1 Sébastien Küry
00106667 Pat24 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents M no Norway - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100022; HP:0100851; HP:0001250; HP:0001507; HP:0000478; HP:0000252; HP:0025031; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00295974 - TBD - F no (Italy) Indian - - - - MRD20 Global developmental delay (severe), intellectual disability, microcephaly, hypotonia (severe) 1 1 Stefano Giuseppe Caraffi
00447947 Pat20 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents - - United States - - - - - ID severe intellectual disability (HP:0001249; delayed speech and language development (HP:0000750); normal behavior (-HP:0100851); global developmental delay (HP:0001263); delayed gross motor development (HP:0002194); hypotonia (HP:0001252); abnormal facial shape (HP:0001999); abnormality of the digestive system (HP:0025031); growth abnormality (HP:0001507); visual impairment (HP:0000505); no seizures (-HP:0001250); microcephaly (HP:0000256) 1 1 Johan den Dunnen
00447960 Pat4 PubMed: Akita 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - NDD see paper; ..., 1y-developmental delay; 1y11m-open eyelid with akinesia when fallen asleep; 2y-open eyelid with eye deviation followed by clonic hemiconvulsion during asleep; EEG spikes in frontal region (2y and 7y); OFC 32.5 cm(−0.6 SD) at birth, (and 47.5 cm(−2.3 SD) at 5y; 1y7m-walk, 2y-words; mild intelletucal disability, mild hypotonia; no involuntary movement; episodic ataxia; MRI brain 4y-normal; elder brother febrile seizure 1 1 Johan den Dunnen
00447961 Pat5 PubMed: Akita 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - NDD see paper; ..., 4m-developmental delay; EEG no epileptic discharge (10 month and 5y); OFC 35.0 cm(+1.1 SD) at birth, 43.3 cm(−1.4 SD) at 9 month, 46 cm(−2.4 SD) at 2y; no head control, no words; profound intelletucal disability, hypotonia with ankle clonus; myoclonic movements extremities/lip, ocular convergence spasm, oculogyric crisis; no ataxia; MRI brain 12m-normal; 2y-progressive cerebellar atrophy; elder brother mild intellectual disability 1 1 Johan den Dunnen
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