All individuals with variants in gene GNB5

36 entries on 1 page. Showing entries 1 - 36.
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00103910 28327206-PatBH6681_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - ? developmental delay, intellectual disability, hypotonia, retinal dystrophy, arrhythmia (Mobitz type I atrioventricular block) 1 1 Johan den Dunnen
00103911 28327206-PatBG PubMed: Eldomery 2017, Journal: Eldomery 2017 2 affected siblings - - United States - - - - - ? developmental delay, intellectual disability, speech delay, nystagmus, sinus node dysfunction 1 2 Johan den Dunnen
00417496 FamA PubMed: Olivier 2021 4-generation family, 12 affected (8F, 4M) F;M - France - - - - - RP see paper 1 12 Johan den Dunnen
00438289 Pat7 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0004387 enterocolitis 1 1 Johan den Dunnen
00444098 Fam3PatII2 2-generation family, affected fetus/boy, unaffected heterozygous carrier parents PubMed: Bayam 2024 M yes Saudi Arabia Arab - - - - ? see paper; ..., pregnancy unremarkable; birth term, C-section, weight 3.09kg, length 52cm, OFC 34cm (-0.9 SD); weight 10.5kg (-2.98 SD), length 92cm (-1.32 SD), OFC 44cm (-3.7 SD); global developmental delay; not walking; no clear words; MRI brain 1y-widening bilateral ventricles, basal cisterns and cereberal cortical sulci suggestive of global brain volume loss, periventricular abnormal high signal intensity FLAIR, T1 and T2-weighted images suggestive of periventricular leukomalacia, bbrain appears small in size (microcephaly), corpus callosum very thin; EEG slow background activity, generalized and predominantly anterior spikes of epileptic discharge; no coordination; initial infantile hypotonia progressed to hypertonia/spasticity; hyperreflexia; not able to stand or walk; normal sensory; profound intellectual disability; myoclonic seizures then mixed seizures; persistent head lag, abnormality of ocular smooth pursuit; hypertelorism, medial flaring eye browes, thick upper and lower lips, elevated ear lobules, low auricle; flexion deformity at both ankles/wrists; no anomalies digestive organs; no hert defects; mild hydronephrotic changes in infantile period with normal renal biochemical function; older sibling 6y-deceased, severe neurodevelopmental disease, seizures 1 1 Zafer Yuksel
00448386 FamPatV1 PubMed: Shamseldin 2016 4-generation family, 5 affected, unaffected heterozygous parents/relatives F yes Saudi Arabia - - - - - NDD see paper; ..., attention deficit hyperactivity disorder (HP:0007018); speech delay (HP:0000750); no motor delay (-HP:0001270); IQ110; no facial dysmorphism (-HP:0001999); OFC 50th centile; MRI brain normal 1 5 Johan den Dunnen
00448387 FamPatV2 PubMed: Shamseldin 2016 sister F yes Saudi Arabia - - - - - NDD see paper; ..., attention deficit hyperactivity disorder (HP:0007018); speech delay (HP:0000750); no motor delay (-HP:0001270); no intellectual disability (HP:0001249); no facial dysmorphism (-HP:0001999); OFC 50th centile 1 1 Johan den Dunnen
00448388 FamPatV3 PubMed: Shamseldin 2016 sister F yes Saudi Arabia - - - - - NDD see paper; ..., attention deficit hyperactivity disorder? (?HP:0007018) (too young) ; speech delay (HP:0000750); motor delay (HP:0001270); no intellectual disability (HP:0001249); no facial dysmorphism (-HP:0001999) 1 1 Johan den Dunnen
00448389 FamPatIV1 PubMed: Shamseldin 2016 cousin F yes Saudi Arabia - - - - - NDD see paper; ..., no attention deficit hyperactivity disorder (-HP:0007018); speech delay (HP:0000750); motor delay (HP:0001270); IQ80; no facial dysmorphism (-HP:0001999); OFC 50th centile; MRI brain normal 1 1 Johan den Dunnen
00448390 FamPatIV6 PubMed: Shamseldin 2016 distant cousin F yes Saudi Arabia - - - - - NDD see paper; ..., attention deficit hyperactivity disorder (HP:0007018); speech delay (HP:0000750); motor delay (HP:0001270); no facial dysmorphism (-HP:0001999); MRI brain normal 1 1 Johan den Dunnen
00448391 FamAPatII2;Pat6 PubMed: Lodder 2016, PubMed: Poke 2019 2-generation family, 2 affected sisters, unaffected heterozygous parents F no Italy - - - - - ? see paper; ..., birth weight 3,580 g (50th); speech delay (HP:0000750); intellectual disability (HP:0001249); epilepsy (HP:0001250); sinus sick syndrome; escape beats; no pacemaker; no structural heart anomalies; hypotonia (HP:0001252); pathological gastric reflux; nystagmus (HP:0000639) 2 2 Johan den Dunnen
00448392 FamAPatII1;Pat7 PubMed: Lodder 2016, PubMed: Poke 2019 sister F no Italy - - - - - ? see paper; ..., speech delay (HP:0000750); intellectual disability (HP:0001249); epilepsy (HP:0001250); sinus sick syndrome; escape beats; no pacemaker; patent foramen ovale; hypotonia (HP:0001252); pathological gastric reflux; nystagmus (HP:0000639) 2 1 Johan den Dunnen
00448393 FamBPatII2;Pat9 PubMed: Lodder 2016, PubMed: Poke 2019 2-generation family, 1 affected, unaffected heterozygous parents F yes Brazil Jordan - - - - ? see paper; ..., birth weight 2,980 g (15th); speech delay (HP:0000750), nonverbal (HP:0001344); intellectual disability (HP:0001249); epilepsy (HP:0001250); sinus sick syndrome; no pacemaker; hypotonia (HP:0001252); normal gastric reflux; nystagmus (HP:0000639) 1 1 Johan den Dunnen
00448394 FamCPatII3 PubMed: Lodder 2016 2-generation family, 2 affected (sister/brother), unaffected heterozygous parents F yes United States Puerto Rico - - - - ? see paper; ..., birth weight 2,751 g (15th); speech delay (HP:0000750), normal verbal understanding, delayed lexical production; intellectual disability (HP:0001249); no epilepsy (-HP:0001250); sinus sick syndrome; chronotropic response; paced escape beats; pacemaker implantated; no structural heart anomalies; hypotonia (HP:0001252); pathological gastric reflux; nystagmus (HP:0000639) 1 2 Johan den Dunnen
00448395 FamCPatII2 PubMed: Lodder 2016 brother M yes United States Puerto Rico - - - - ? see paper; ..., see paper; ..., speech delay (HP:0000750), normal verbal understanding, delayed lexical production; intellectual disability (HP:0001249); no epilepsy (-HP:0001250); sinus sick syndrome; chronotropic response; paced escape beats; pacemaker implantated; no structural heart anomalies; hypotonia (HP:0001252); pathological gastric reflux; nystagmus (HP:0000639) 1 1 Johan den Dunnen
00448396 FamDPatII1;Pat8 PubMed: Lodder 2016, PubMed: Poke 2019 2-generation family, 1 affected, unaffected heterozygous parents F no United States India - - - - ? see paper; ..., birth weight 2,845 g (15th); speech delay (HP:0000750), nonverbal (HP:0001344); intellectual disability (HP:0001249); epilepsy (HP:0001250); increased PR interval (intermittent Weckenbach); no pacemaker; no structural heart anomalies; hypotonia (HP:0001252); pathological gastric reflux; nystagmus (HP:0000639) 1 1 Johan den Dunnen
00448397 FamEPatII2 PubMed: Lodder 2016 2-generation family, 2 affected (sister/brother), unaffected heterozygous parents F no Netherlands Morocco - - - - ? see paper; ..., speech delay (HP:0000750), delayed lexical production; mild intellectual disability (HP:0001249)(HP:0001256); no epilepsy (-HP:0001250); sinus sick syndrome; chronotropic response unremarkable; escape beats; no pacemaker; no structural heart anomalies; no hypotonia (-HP:0001252); normal gastric reflux 1 2 Johan den Dunnen
00448398 FamEPatII1 PubMed: Lodder 2016 brother M no Netherlands Morocco - - - - ? see paper; ..., speech delay (HP:0000750), delayed lexical production; mild intellectual disability (HP:0001249)(HP:0001256); no epilepsy (-HP:0001250); sinus sick syndrome; chronotropic response unremarkable; escape beats; pacemaker implantated; no structural heart anomalies; impaired fine motor skills; normal gastric reflux; no nystagmus (HP:0000639) 1 1 Johan den Dunnen
00448399 FamF PubMed: Lodder 2016 2-generation family, 1 affected, unaffected heterozygous parents M yes Brazil - - - - - ? see paper; ..., mild intellectual disability (HP:0001249)(HP:0001256); no epilepsy (-HP:0001250); sinus sick syndrome; no hypotonia (-HP:0001252) 1 1 Johan den Dunnen
00448404 Pat1 PubMed: Poke 2019 4-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Cambodia - - - - - ? see paper; ..., 1d-delay noted; 11d-onset seizures, focal hemiclonic seizure, 3m-epileptic spasms, 21m-focal to bilateral tonic-clonic seizure/focal tonic seizure; EEG 1m-multifocal epileptiform discharges, 3m-burst suppression; hypotonia, contractures; profound intellectual disability; nonverbal; nonambulatory; sinus bradycardia with 4.2 s pauses (1d-cyanosis); cortical visual impairment, optic atrophy; no ERG; pyloric stenosis, G-tube, scoliosis 1 1 Johan den Dunnen
00448405 Pat2 PubMed: Poke 2019 5-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Pakistan - - - - - ? see paper; ..., 2m-delay noted; 3m-onset epileptic spasms, 18m-tonic-clonic seizure, 23m-epileptic spasms; EEG 1m-normal, 3m-burst suppression, 4m-normal; hypotonia; profound intellectual disability; nonverbal; nonambulatory; MRI brain 2y-mild cerebellar atrophy; junctional rhythm with 6.9 s pauses (3d-apnea); vertical nystagmus; no ERG; microcephaly 1 1 Johan den Dunnen
00448406 FamPat3 PubMed: Poke 2019 2-generation family, 2 affected sisters, unaffected heterozygous parents F - Algeria - 13y - - - ? see paper; ..., 13y-deceased; 1d-delay noted; 4m-onset clonic seizure, 6m-epileptic spasms, 11m-generalized tonic-clonic seizure, 3y-epileptic spasms; EEG 42d-multifocal epileptiform discharges, ...; hypotonia; profound intellectual disability; nonverbal; nonambulatory; MRI brain normal; ECG normal; nystagmus; no ERG 1 2 Johan den Dunnen
00448407 FamPat4 PubMed: Poke 2019 sister F - Algeria - - - - - ? see paper; ..., 1d-delay noted; 6m-onset clonic seizure, 2y-focal impaired awareness seizure, 2y-focal clonic seizure; EEG 7m/2y-multifocal epileptiform discharges, ...; hypotonia; profound intellectual disability; nonverbal; nonambulatory; MRI brain mild ventricular asymmetry; sinus bradycardia (2y-asymptomatic; vertical nystagmus, retinopathy on ERG 1 1 Johan den Dunnen
00448408 FamPat1 PubMed: Yazdani 2020 2-generation family, 2 affected brothers, unaffected heterozygous parents (1st cousin) M yes Pakistan - - - - - ? see paper; ..., severely affected, intellectual developmental disorder, cardiac arrhythmia syndrome 1 2 Johan den Dunnen
00448409 FamPat2 PubMed: Yazdani 2020 brother M yes Pakistan - - - - - ? see paper; ..., severely affected, intellectual developmental disorder, cardiac arrhythmia syndrome 1 1 Johan den Dunnen
00448410 patient PubMed: Malerba 2018 2-generation family, 1 affected, unaffected heterozygous parents F no Italy - - - - - ? see paper; ..., hypotonia, severe sick sinus syndrome, mild intellectual disability 2 1 Johan den Dunnen
00448411 FamPatIV14 PubMed: Turkdogan 2017 5-generation family, 6 affected (3F, 3M), unaffected heterozygous parents/relatives F yes Turkey - - - - - EIEE see paper; ..., early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder 1 6 Johan den Dunnen
00448412 FamPatIV8 PubMed: Turkdogan 2017 sister F yes Turkey - 5m15d - - - EIEE see paper; ..., 5m15d died severe acute gastroenteritis); early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder 1 1 Johan den Dunnen
00448413 FamPatIV11 PubMed: Turkdogan 2017 brother M yes Turkey - 7m - - - EIEE see paper; ..., 7m-died during sleep; early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder 1 1 Johan den Dunnen
00448414 FamPatIV13 PubMed: Turkdogan 2017 twin sister F yes Turkey - 8m - - - EIEE see paper; ..., 8m-died during sleep; early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder 1 1 Johan den Dunnen
00448415 FamPatIV12 PubMed: Turkdogan 2017 brother F yes Turkey - 7y - - - EIEE see paper; ..., 7y-died multiple organ failure (had sinus bradycardia and sinus arrhythmia); early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder 1 1 Johan den Dunnen
00448416 FamPatV1 PubMed: Turkdogan 2017 2nd degree cousin M yes Turkey - - - - - EIEE see paper; ..., ; early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder (sinus arrhythmia, normal PR/QTc intervals and sinus bradycardia with frequent sinus pauses up to 3.3sec without structural abnormalities) 1 1 Johan den Dunnen
00448418 patient PubMed: Vernon 2018 2-generation family, 1 affected, unaffected heterozygous parents M no - white - - - - ID see paper; ..., NICU respiratory distress, periodic breathing, bradycardia; laryngomalacia hypertonia, clenched hands 3m-upbeat nystagmus; ERG severe reduction cone/rod function 2 1 Johan den Dunnen
00448419 patient PubMed: Shao 2020 2-generation family, 1 affected, unaffected heterozygous parents F - Canada Asia-S - - - - ? see paper;. ..., 4m-nystagmus, 6m-status epilepticus, severe bradycardia; global developmental delay, hypotonia, central sleep apnea 1 1 Johan den Dunnen
00448420 patient PubMed: Tang 2020 2-generation family, 1 affected, unaffected heterozygous parents M - China Han - - - - ID see paper; ..., early-onset intellectual developmental disorder, cardiac arrhythmia syndrome; 6m-convulsions, paroxysmal cyanosis (1d); neurodevelopmental delay; frequent seizures, ECG severe cardiac arrhythmia 2 1 Johan den Dunnen
00460919 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
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