All individuals with variants in gene GNB2

14 entries on 1 page. Showing entries 1 - 14.
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AscendingIndividual ID     
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Age at death     
VIP     
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Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00248387 patient PubMed: Fukuda 2020, Journal: Fukuda 2020 - F - Japan - - - - - ID moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); mild speech delay (HP:0000750) 1 1 Takuya Hiraide
00408742 Pat1 PubMed: Tan 2022 - M no - - - - - - ID see paper; ..., mild developmental delay/intellectual disability; autistic behaviour; no hypotonia; no aspiration; clinically one episode of possible seizure activity, EEG no epileptiform activity identified; dysmorphism; no dry skin; no cardiac malformation; no cardiac arrhythmia; no ocular abnormalities; no renal malformation 1 1 Johan den Dunnen
00408743 Pat2 PubMed: Tan 2022 - M no - - - - - - ID see paper; ..., see paper; ..., mild developmental delay/intellectual disability; autistic behaviour; no hypotonia; EEG subtle slowing and sharp activity over left temporal region during sleep, 4-5 generalised seizures, onset 14y, on valproate and lamotrigine; no dysmorphism; no cardiac malformation; no ocular abnormalities; no renal malformation 1 1 Johan den Dunnen
00408744 Pat3 PubMed: Tan 2022 - M no - - - - - - ID see paper; ..., mild developmental delay/intellectual disability; autistic behaviour; hypotonia; no aspiration; EEG iIntermittent abnormal background cerebral rhythm at right occipital region, no epileptiform potentials, no clinical seizures noted; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; exotropia; no renal malformation 1 1 Johan den Dunnen
00408745 Pat4 PubMed: Tan 2022 - M no - - - - - - ID see paper; ..., severe developmental delay/intellectual disability; autistic behaviour; hypotonia; no aspiration; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; no ocular abnormalities; no renal malformation 1 1 Johan den Dunnen
00408746 Pat5 PubMed: Tan 2022 - M no New Zealand Europe - - - - ID see paper; ..., severe developmental delay/intellectual disability; no autistic behaviour; hypotonia; aspiration; EEG consistent with underlying structural abnormality with extensive stroke in the frontal area and cerebral dysfunction, no epileptiform activity; dysmorphism; no dry skin; cardiac malformation; nystagmus; no renal malformation 1 1 Johan den Dunnen
00408747 Pat6 PubMed: Tan 2022 - F no - - - - - - ID see paper; ..., severe developmental delay/intellectual disability; hypotonia; no aspiration; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; esotropia; renal malformation 1 1 Johan den Dunnen
00408748 Pat7 PubMed: Tan 2022 - M no - Arab;Moslem - - - - ID see paper; ..., moderate developmental delay/intellectual disability; no autistic behaviour; hypotonia; no aspiration; normal nerve conduction studies, EMG normal; EEG relative abundance of sleep spindles, without epileptiform activity; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; no ocular abnormalities; no renal malformation 1 1 Johan den Dunnen
00408749 Pat8 PubMed: Tan 2022 - M no - - - - - - ID see paper; ..., mild-moderate developmental delay/intellectual disability; autistic behaviour; hypotonia; aspiration; axonal neuropathy; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; no ocular abnormalities; 1 1 Johan den Dunnen
00408750 Pat9 PubMed: Tan 2022 fetus F - - - - - - - ID see paper; ..., dysmorphism; cardiac malformation; no ocular abnormalities; renal malformation 1 1 Johan den Dunnen
00408751 Pat10 PubMed: Tan 2022 - F no - - - - - - ID see paper; ..., severe developmental delay/intellectual disability; no autistic behaviour; hypotonia; aspiration; normal nerve conduction studies, EMG myopathic; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; hyper-metropia; renal malformation 1 1 Johan den Dunnen
00408752 Pat11 PubMed: Tan 2022 - M no - - - - - - ID see paper; ..., moderate developmental delay/intellectual disability; no autistic behaviour; hypotonia; no aspiration; EEG normal; dysmorphism; dry skin; cardiac malformation; no cardiac arrhythmia; no ocular abnormalities; no renal malformation 1 1 Johan den Dunnen
00408753 Pat12 PubMed: Tan 2022 - F no - white - - - - ID see paper; ..., moderate developmental delay/intellectual disability; autistic behaviour; hypotonia; no aspiration; normal nerve conduction studies, EMG normal; EEG normal; dysmorphism; no dry skin; no cardiac arrhythmia; no ocular abnormalities; no renal malformation 1 1 Johan den Dunnen
00408754 patient PubMed: Fukuda 2020 - F - Japan - - - - - ID see paper; ..., moderate developmental delay/intellectual disability; no autistic behaviour; hypotonia; no aspiration; normal nerve conduction studies; EEG normal; dysmorphism; no cardiac malformation; no cardiac arrhythmia; exotropia 1 1 Johan den Dunnen
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