All individuals with variants in gene GNB1

14 entries on 1 page. Showing entries 1 - 14.
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00064744 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M - United States Ashkenazi >08y06m 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), intellectual disability (HP:0001249), early onset hypotonia (HP:0008947), attention deficit hyperactivity disorder (HP:0007018), hypsarrhythmia by eeg (HP:0002521), vocal tics (HP:0100035), motor tics (HP:0100034), anxiety disorder (HP:0100852) 1 1 Johan den Dunnen
00064745 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M - United States jewish (Ashkenazi/Sephardic) >00y13m 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), strabismus (HP:0000486), feeding difficulties (HP:0011968), EEG with generalized epileptiform discharges (HP:0011198), early onset hypotonia (HP:0008947), infantile spasms (HP:0012469) 1 1 Johan den Dunnen
00064746 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M - United States jewish (Ashkenazi/Sephardic) >05y 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), failure to thrive (HP:0001508), feeding difficulties (HP:0011968), cortical visual impairment (HP:0100704), early onset hypotonia (HP:0008947), abnormal auditory evoked potentials (HP:0006958), generalized seizures (HP:0002197), polymicrogyria (HP:0002126), delayed myelination (HP:0012448) 1 1 Johan den Dunnen
00064747 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F - - Africa, north >04y 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), growth delay (HP:0001510), limb hypertonia (HP:0002509), failure to thrive (HP:0001508), cleft palate (HP:0000175), delayed speech and language development (HP:0000750), dystonia (HP:0001332), infantile axial hypotonia (HP:0009062), congenital hypothyroidism (HP:0000851), adducted thumb (HP:0001181), abnormality of ocular smooth pursuit (HP:0000617), stridor (HP:0010307), limb dystonia (HP:0002451) 1 1 Johan den Dunnen
00064748 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no - European >19y 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), seizures (HP:0001250), multifocal eeg abnormality (HP:0010841), intellectual disability (HP:0001249), developmental regression (HP:0002376), focal seizures with impairment of awareness (HP:0002384), generalized tonic-clonic seizures (HP:0002069), eeg with generalized epileptiform discharges (HP:0011198), absence seizures (HP:0002121), autism (HP:0000717), infantile spasms (HP:0012469), status epilepticus (HP:0002133), generalized tonic seizures (HP:0010818), hypsarrhythmia by eeg (HP:0002521), behavioural abnormality (HP:0000708) 1 1 Johan den Dunnen
00064749 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F no - European >17y 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), intellectual disability (HP:0001249), generalized tonic-clonic seizures (HP:0002069), absence seizures (HP:0002121), status epilepticus (HP:0002133), febrile seizures (HP:0002373), atonic seizures (HP:0010819), focal seizures (HP:0007359), short philtrum (HP:0000322), tapered fingers (HP:0001182), joint hypermobility (HP:0001382), aggressive behaviour (HP:0000718), eeg with temporal sharp and slow waves (HP:0011289), hyperreflexia (HP:0001347), prominent upper incisors (HP:0000675), narrow hands (HP:0004283) 1 1 Johan den Dunnen
00064750 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States European >08y 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), seizures (HP:0001250), limb hypertonia (HP:0002509), failure to thrive (HP:0001508), strabismus (HP:0000486), focal seizures with impairment of awareness (HP:0002384), hydronephrosis (HP:0000126), hemiplegia (HP:0002301), bilateral ureteropelvic junction obstruction (HP:0000074), high-arched palate (HP:0000218), pectus excavatum (HP:0000767), lower extremity weakness (HP:0007340), hemiclonic seizure (HP:0006813), eeg with burst suppression (HP:0010851), global brain atrophy (HP:0002283) 1 1 Johan den Dunnen
00064751 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F no United States European;Filipino >20y 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), expressive language delay (HP:0002474), strabismus (HP:0000486), developmental regression (HP:0002376), generalized tonic-clonic seizures (HP:0002069), autism (HP:0000717), macrocephaly (HP:0000256), postnatal macrocephaly (HP:0005490), esotropia (HP:0000565), eeg with temporal focal spikes (HP:0012018) 1 1 Johan den Dunnen
00064752 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States Mexican;Spanish;German >11y 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), attention deficit hyperactivity disorder (HP:0007018), delayed speech and language development (HP:0000750), cerebral palsy (HP:0100021), pes planus (HP:0001763) 1 1 Johan den Dunnen
00064753 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States European >04y 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), multifocal eeg abnormality (HP:0010841), expressive language delay (HP:0002474), strabismus (HP:0000486), nystagmus (HP:0000639), inability to walk (HP:0002540), eeg with generalized epileptiform discharges (HP:0011198), tonic seizures (HP:0010818), macrocephaly (HP:0000256), dysphagia (HP:0002015), exotropia (HP:0000577), myoclonic seizures (HP:0002123), severe receptive language delay (HP:0011352) 1 1 Johan den Dunnen
00064754 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no - European 10y 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), multifocal eeg abnormality (HP:0010841), expressive language delay (HP:0002474), inability to walk (HP:0002540)nystagmus (HP:0000639), developmental regression (HP:0002376), hydronephrosis (HP:0000126), asthma (HP:0002099) 1 1 Johan den Dunnen
00064755 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States European >06y 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), multifocal eeg abnormality (HP:0010841), limb hypertonia (HP:0002509), feeding difficulties (HP:0011968), cortical visual impairment (HP:0100704), focal seizures with impairment of awareness (HP:0002384), dysphagia (HP:0002015), dystonia (HP:0001332), posteriorly rotated ears (HP:0000358), overfolded helices (HP:0000396), clenched hand position (HP:0001188), limited elbow extension (HP:0001377), sensorineural hearing loss (HP:0000407), neurogenic bladder (HP:0000011), eeg with occipital slowing (HP:0011210) 1 1 Johan den Dunnen
00064756 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F no - Hispanic >04y 0 - - developmental delay see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), multifocal eeg abnormality (HP:0010841), intellectual disability (HP:0001249), limb hypertonia (HP:0002509), expressive language delay (HP:0002474), failure to thrive (HP:0001508), feeding difficulties (HP:0011968), cortical visual impairment (HP:0100704), nystagmus (HP:0000639), inability to walk (HP:0002540), cleft palate (HP:0000175), infantile axial hypotonia (HP:0009062), myoclonus (HP:0001336) 1 1 Johan den Dunnen
00174868 - - - F - (Germany) - - 0 - - - HP:0001760 (Abnormality of the foot) 1 1 IMGAG
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