All individuals with variants in gene RHOBTB2

40 entries on 1 page. Showing entries 1 - 40.
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VIP     
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00133649 - - - F - - - - - - - ID severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); severe speech delay (HP:0000750) 1 1 Bernt Popp
00133650 - - - - - - - - - - - ID severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344) 1 1 Bernt Popp
00133651 - - - - - - - - - - - ID profound intellectual disability (HP:0002187); profound global developmental delay (HP:0012736); no speech (HP:0001344) 1 1 Bernt Popp
00133652 - - - - - - - - - - - ID severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344) 1 1 Bernt Popp
00133653 - - - - - - - - - - - ID severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344) 1 1 Bernt Popp
00133654 - - - - - - - - - - - ID severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344) 1 1 Bernt Popp
00133655 - - - - - - - - - - - ID severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344) 1 1 Bernt Popp
00133656 - - - - - - - - - - - ID moderate intellectual disability (HP:0002342); moderate global developmental delay (HP:0011343); severe speech delay (HP:0000750) 1 1 Bernt Popp
00133658 - - - - - - - - - - - ID severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344) 1 1 Bernt Popp
00133659 - - - - - - - - - - - ID severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); poor speech (HP:0002465) 1 1 Bernt Popp
00154492 Pat1 PubMed: Belal 2018, Journal: Belal 2018 - M no Japan Japanese - - - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy see paper; ..., microcephaly, Delayed myelination, brain atrophy, spastic quadriplegis, dyskinesia 1 1 Mitsuko Nakashima
00154493 Pat2 PubMed: Belal 2018, Journal: Belal 2018 - F no Japan Japanese - - - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy see paper; ..., microcephaly, brain atrophy, cortical blindness, spastic quadriplegia, athetoid movement 1 1 Mitsuko Nakashima
00154494 Pat3 PubMed: Belal 2018, Journal: Belal 2018 - F no Japan Japanese - - - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy see paper; ..., dyskinesia; myoclonic seizure, tonic seizure, febrile status epilepticus, complex focal seizures evoked by visual pattern; 1 1 Mitsuko Nakashima
00164419 - - - F - (Germany) - - - - - ? Intellectual disability (HP:0001249); Microcephaly (HP:0000252) 1 1 IMGAG
00229787 Individual 1 PubMed: Straub 2018 - F - - - - - - antiepileptic treatment carbamazepine from 3.5 years (responding, no seizures from the age of >4y) EIEE does not walk; speaks few short words; comprehension severely limited; no regression; severe DD or ID; 2m-onset seizures; no MRI anomalies; truncal hypotonia; hypertonia lower limbs; paroxysmal movement disorder; no stereotypies; limited interaction, easy smiling and laughing; face Pitt-Hopkins-like; 6-7m-transient strabismus, mild constipation 1 1 Johan den Dunnen
00229788 Individual 2 PubMed: Straub 2018 - M - - - - - - antiepileptic treatment neonatally phenobarbital, then carbamazepine (good for seizures, partial for dystonic attacks) EIEE 2.5y-does not walk ; no speech; comprehension limited; no regression; severe DD or ID; 4d-onset seizures (generalized); delayed myelinationMRI ; hypotonia; choreatic, dystonic, paroxysmal dyskinetic attacks; no stereotypies; no behavioral anomalies ; low nasal bridge, epicanthal folds 1 1 Johan den Dunnen
00229789 Individual 3 PubMed: Straub 2018 - F - - - - - - antiepileptic treatment divalproex sodium, topiramate, zonisamide ketogenic diet, lacosamide, clobazam, phenobarbital, levetiracetam (drug resistance) EIEE does not walk; no speech; comprehension turns to voice only; 6m-regression; profound DD or ID; 6m-onset seizures (status epilepticus); MRI enlarged ventricles, prominent cortical sulci, thin corpus callosum; hypotonia; dystonic movement disorder; no stereotypies; no behavioral anomalies; hirsute long eyelashes, micrognathia, large pinnae; 3y-left hemiplegia after status epilepticus 1 1 Johan den Dunnen
00229790 Individual 4 PubMed: Straub 2018 - F - - - - - - antiepileptic treatment phenobarbital, levetiracetam, clonazepam, memantine (4y-no seizures, then refractory including status epilepticus) EIEE does not walk; no speech; comprehension limited; regression after seizures; severe DD or ID; 10w-onset seizures (focal, sec. generalized; later status epilepticus); MRI thin corpus callosum, cerebellar hypoplasia, prominent opercula, later cortical atrophy; truncal hypotonia; hypertonia limbs; no movement disorder; stereotypic hand movements; no behavioral anomalies ; sparse eyebrows, deep-set eyes, depressed nasal root, slightly low insertion of columella; hemiparesis after status epilepticus 1 1 Johan den Dunnen
00229791 Individual 5 PubMed: Straub 2018 - F - - - - - - antiepileptic treatment valproic acid, pyridoxine (responding, response to pyridoxine (two seizures per year)) EIEE walks with support; no speech; no comprehension ; regression; severe DD or ID (IQ <30); 4w-onset seizures (2x status epilepticus); MRI secondarily acute diffusion and white-matter abnormalities, atrophy; hypotonia; movement disorder; no stereotypies; pleasant behavior; full lower lip, flat maxillae; 14y-acute onset of hemiparesis during febrile short-lasting seizure 1 1 Johan den Dunnen
00229792 Individual 6 PubMed: Straub 2018 - F - - - - - - antiepileptic treatment carbamazepine (previously lamotrigine, topiramate, phenobarbital) (responding) EIEE walks short distances; no speech; comprehension severely limited; 4m-possible regression; severe DD or ID; 4m-onset seizures; no MRI anomalies; hypotonia; no hypertonia; dystonic movement disorder; stereotypic repetitive behaviors; noise sensitivity, self-harm (exacerbated by anxiety); deep-set eyes, epicanthal folds, low anterior hairline, thick arched eyebrows, broad nasal tip 1 1 Johan den Dunnen
00229793 Individual 7 PubMed: Straub 2018 - M - - - - - - antiepileptic treatment levetiracetam (responding) EIEE 5y-walks few steps; no speech; comprehension severely limited; no regression; severe DD or ID; 4m-onset seizures (complex partial, generalized tonic clonic); no MRI anomalies; truncal hypotonia; hypertonia limbs; paroxysmal, dystonic-athetoid attacks; no stereotypies; behavioral anomalies; dolichocephaly, wide-spaced teeth; hyperreflexia, mild oculomotor apraxia, insomnia, constipation 1 1 Johan den Dunnen
00229794 Individual 8 PubMed: Straub 2018 - M - - - - - - antiepileptic treatment levetiracetam (responding) EIEE 3y-walks; speaks few short words; comprehension good; 3y-regression; moderate DD or ID; 3y-onset seizures (focal status); MRI right hemispheric swelling after left hemiplegia and focal seizures; axial hypotonia; hypertonia mild left spastic hemiparesis; paroxysmal dystonic attacks; no stereotypies; no behavioral anomalies ; slightly smooth philtrum; left hemiplegia, bilateral fifth-finger clinodactyly 1 1 Johan den Dunnen
00229795 Individual 9 PubMed: Straub 2018 - M - - - - - - antiepileptic treatment levetiracetam (responding), no seizures from the age of >9m) EIEE does not walk; no speech; comprehension very limited; 4m-regression stagnation; severe DD or ID; 9m-onset seizures (status epilepticus); no MRI anomalies; truncal hypotonia; hypertonia lower limbs; chorea-like movement disorder (limbs); stereotypic hands in mouth; intense stare, uncontrollable laughter, bruxism, pleasant behavior; large ears, thin upper lip, slightly upturned nose 1 1 Johan den Dunnen
00229796 Individual 10 PubMed: Straub 2018 - F - - - - - - - EIEE 1.5y-walks; speaks rare two-word combination; comprehension good; no regression; severe DD or ID; 5.5m-onset seizures (febrile), >6y-no febrile seizures; no MRI anomalies; no hypotonia; no hypertonia; no movement disorder; no stereotypies; autistic, biting, head banging; long philtrum 1 1 Johan den Dunnen
00434590 - Langhammer 2023 - M - - - - - - - NDD - 1 1 Franziska Langhammer
00434591 - Langhammer 2023 - F - - - - - - - NDD - 1 1 Franziska Langhammer
00434592 - Langhammer 2023 - M - - - - - - - NDD - 1 1 Franziska Langhammer
00434593 - Langhammer 2023 - M - - - - - - - NDD - 1 1 Franziska Langhammer
00434594 - Langhammer 2023 - M - - - - - - - NDD - 1 1 Franziska Langhammer
00434595 - Langhammer 2023 - M - - - - - - - NDD - 1 1 Franziska Langhammer
00434596 - Langhammer 2023 - M - - - - - - - NDD - 1 1 Franziska Langhammer
00434597 - Langhammer 2023 - M yes - - - - - - NDD - 1 1 Franziska Langhammer
00434598 - Langhammer 2023 Maddirevula et al., Front Genet, 2020 - F yes - - - - - - NDD - 1 1 Franziska Langhammer
00434599 - Langhammer 2023 - F yes - - - - - - NDD - 1 1 Franziska Langhammer
00434600 - Langhammer 2023 - M yes - - - - - - NDD - 1 1 Franziska Langhammer
00434601 - Langhammer 2023 - M yes - - - - - - NDD - 1 1 Franziska Langhammer
00434602 - Langhammer 2023 - M yes - - - - - - NDD - 1 1 Franziska Langhammer
00434603 - Langhammer 2023 - F yes - - - - - - NDD - 1 1 Franziska Langhammer
00434604 - Langhammer 2023 - M - - - - - - - NDD - 1 1 Franziska Langhammer
00434605 - Langhammer 2023 - F - - - - - - - NDD - 2 1 Franziska Langhammer
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