All individuals with variants in gene CAMK2A

27 entries on 1 page. Showing entries 1 - 27.
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00106539 Pat1 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0100851; HP:0000478; HP:0000271 1 1 Sébastien Küry
00106591 Pat2 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents F no France - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100851; HP:0000478; HP:0000271; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106592 Pat3 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents M no United Kingdom (Great Britain) - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100851; HP:0001250; HP:0000271; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106593 Pat5 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0100851; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106594 Pat6 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0100851; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106595 Pat7 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents M no France - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0001250; HP:0001507; HP:0000271; HP:0000256; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106596 Pat8 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents M no France - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100851; HP:0001250; HP:0000119; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106601 Pat9(DECIPHER332886) PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Netherlands - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0100851; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106640 Pat10 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ID HP:0001249; HP:0000750; HP:0100851; HP:0001507; HP:0000478; HP:0000271; intellectual disability (HP:0001249); speech delay (HP:0000750) 1 1 Sébastien Küry
00106653 Pat12 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents M no Netherlands - - - - - ID HP:0001263; HP:0001249; HP:0000750; HP:0002194; ; ; HP:0100851; HP:0000119; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106654 Pat13 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; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Sébastien Küry
00106656 Pat14 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - ID HP:0001249; HP:0100851; HP:0000478; HP:0000256; HP:0025031; HP:0001629; intellectual disability (HP:0001249); no speech delay (-HP:0000750) 1 1 Sébastien Küry
00132017 Pat4 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Germany - - - - - ID - 1 1 Sébastien Küry
00132018 Pat11 PubMed: Kury 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Germany - - - - - ID - 1 1 Sébastien Küry
00205862 patient2 - - F no China - - - - - epilepsy - 1 1 Jinliang Li
00207964 - - - M - - - - - - - ? Moderate global developmental delay (HP:0011343); Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252) 1 1 IMGAG
00231051 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Hypospadias (HP:0000047); Short stature (HP:0004322) 1 1 IMGAG
00373535 iw007 - - M no China Chinese - - - - ? HP:0001263; HP:0000708; HP:0002360; HP:0003234; HP:0000574; HP:0012389; HP:0001288 1 1 Wenjuan Qiu
00391786 142P - - F no Spain - - - - - MRD53 - 1 1 Alejandro Brea-Fernández
00404794 192233 - - F ? - - - - - - MRD53 Neurodevelopmental delay, Severe global developmental delay; Developmental delay, mental retardation, brother dwarfism with growth hormone treatment, two sisters with developmental delay, several family members in the paternal family with mental retardation 1 1 Andreas Laner
00447957 Pat1 PubMed: Akita 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NDD see paper; ..., 3m-seizure; focal seizures with apnea or focal clonic seizures; EEG 7m-normal, 2y-multifocal spikes, 10y-fast rhythm; OFC 38.5 cm (+4.3 SD) at birth, 43.5 cm(−1.2 SD) at 9 month, 46.8 cm(−2.1 SD) at 3y 50.0 cm (−2.3 SD) at 13y; 3m-head control, 7m-rolling‐over, no sitting, no words; profound intelletucal disability, periodic irritability, hypotonia; stereotypic movements of extremities; no ataxia; MRI brain 2m/10m/2y-normal; 11y-microcephaly 1 1 Johan den Dunnen
00447958 Pat2 PubMed: Akita 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - NDD see paper; ..., 4m-seizure; 4m-epileptic spasms, 8m-focal seizure with apnea, 9m-epileptic spasms; EEG 4m-hypsarrhythmia, 8m-spike and sharp waves predominantly in occipital region, 1y1m-hypsarrhythmia; OFC 33.5 cm (+0.1 SD) at birth, 43.5 cm (+0.7 SD) at 5 month, 50.0 cm (+0.3 SD) at 3y; 4m-social smile, 5m-head control, 14-sitting, 1y8m-walking, no words; profound intelletucal disability, autistic and hyperkinetic behavior; no involuntary movement; no ataxia; MRI brain 4m/3y-normal; elder brother Duane syndrome 1 1 Johan den Dunnen
00447959 Pat3 PubMed: Akita 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NDD see paper; ..., 3m-seizure; eye deviation to left, tonic opisthotonic posturing, upward gazing; EEG multifocal spikes in fp2, t4, t8, o1 and o2; OFC 33.5 cm (+0.4 SD) at birth, 45.6 cm (+0.8 SD) at 10 month, 49.9 cm (−0.2 SD) at 5y; bedridden; profound intelletucal disability, hypotonia, erratic myoclonus; erratic myoclonus; no ataxia; MRI brain 2y-normal; 9y-progressive cerebellar atrophy 1 1 Johan den Dunnen
00447962 FamPatII1 PubMed: Chia 2018 2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs M yes Jordan - - - - - NDD see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies 2 4 Johan den Dunnen
00447963 FamPatII4 PubMed: Chia 2018 affected sister F yes Jordan - - - - - NDD see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-normal; no behavioural anomalies 2 1 Johan den Dunnen
00447964 FamPatII2 PubMed: Chia 2018 brother M yes Jordan - - - - - Healthy/Control see paper; ..., birth at term, weight 2.9kg, length 49cm, OFC 35cm; normal growth; no developmental dealy; 11m-walk; normal speech; no seizures; no convulsions; no hypotonia; no behavioural anomalies 1 1 Johan den Dunnen
00447965 FamPatII5 PubMed: Chia 2018 sister F yes Jordan - - - - - Healthy/Control see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; normal growth; no developmental dealy; 12m-walk; normal speech; no seizures; no convulsions; no hypotonia; MRI brain normal; no behavioural anomalies 1 1 Johan den Dunnen
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