All individuals with variants in gene POLR3B

168 entries on 2 pages. Showing entries 1 - 100.
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00117896 - PubMed: Tétreault 2001 - - - United States European - - - - ? hypomyelination, hypodontia, and hypogonadotropic hypogonadism; 4H syndrome 2 1 Gerard C.P. Schaafsma
00117897 - PubMed: Tétreault 2001 - - - United States European - - - - ? hypomyelination, hypodontia, and hypogonadotropic hypogonadism; 4H syndrome 2 1 Gerard C.P. Schaafsma
00117898 - PubMed: Tétreault 2001 - - - Italy - - - - - ? hypomyelination, hypodontia, and hypogonadotropic hypogonadism; 4H syndrome 2 1 Gerard C.P. Schaafsma
00117899 - PubMed: Saitsu 2011 - F - - - - - - - ? Diffuse cerebral hypomyelination with cerebellar atrophy, hypoplasia of corpus callosum; HCAHC 2 1 Gerard C.P. Schaafsma
00117900 - PubMed: Saitsu 2011 - M - - - - - - - ? Diffuse cerebral hypomyelination with cerebellar atrophy, hypoplasia of corpus callosum; HCAHC 2 1 Gerard C.P. Schaafsma
00117901 - PubMed: Saitsu 2011 - F - - - - - - - ? Diffuse cerebral hypomyelination with cerebellar atrophy, hypoplasia of corpus callosum; HCAHC 2 1 Gerard C.P. Schaafsma
00208786 - - - F - Germany - - - - - - HP:0000717 (Autism); HP:0000708 (Behavioral abnormality) 1 1 Andreas Laner
00290587 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00290588 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00290589 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00295548 - - - F - - - - - - - ? Encephalopathy (HP:0001298) 2 1 Andreas Laner
00307147 Pat3 PubMed: Krygier 2019 - F - Poland - - - - - ataxia failure to thrive, developmental delay, hypersalivation, dysphagia, mild pyramidal features, MRI brain cerebellar atrophy 2 1 Johan den Dunnen
00326819 Pat1 PubMed: Djordjevic 2021, Journal: Djordjevic 2021 - F - India East - - - - ? see paper; ..., height 166 cm (50%), weight 74.3 kg (85%), OFC 51 cm (<3%); severe global developmental delay/intellectual disability, on formal testing verbal reasoning and adaptive skills <1% (ABAS-II, Leiter-R, PPVT-4); 3.5y-walk; 5y-first words, 7y-sentences, 16y-mainly uses single words and short phrases, dysarthria; ambulatory, spastic gait, ataxia, occasional dystonic posturing; needs assistance to feed, dress, bath, can print name; severe, progressive appendicular hypertonia/spasticity; deep tendon reflexes 4+ with sustained ankle clonus, +Hoffman sign; extensor plantar responses; muscle strength MRC grade 5/5 UEs, tibialis anterior and extensor hallucis longus 4/5; not able to cooperate with formal sensory exam; cerebellar testing mirror movements, intention tremor, mild dysmetria, gait ataxia, unable to perform tandem gait; no seizures; MRI brain mild cerebellar atrophy, non-specific T2 and FLAIR hyperintensities; 13y-EMG/NCS length-dependent primary axonal neuropathy with secondary demyelination, markedly decreased velocities in motor fibers of tibial and deep peroneal nerves 1 1 Johan den Dunnen
00326820 Pat2 PubMed: Djordjevic 2021, Journal: Djordjevic 2021 - M - Turkey - - - - - ? see paper; ..., height 96 cm (1%), weight 13.5 kg (1%), OFC 48 cm (5%); language DQ 51%, visual motor DQ 51%; 22m-walk; yy-first words, 2-3-word phrases, dysarthria; ambulatory, in-toeing L > R; feeds self with spoon and fork; no appendicular hypertonia/spasticity; deep tendon reflexes normal and symmetric; no extensor plantar responses; normal muscle strength; grossly normal sensory examination; cerebellar testing normal for age; 3y-seizures, head and bilateral arm drop attacks, generalized seizures; MRI brain normal; 4y-EMG/NCS normal 1 1 Johan den Dunnen
00326821 Pat3 PubMed: Djordjevic 2021, Journal: Djordjevic 2021 - M - - Europe-North - - - - ? see paper; ..., height 152 cm (95%), weight 51.9 kg (95%), OFC 55 cm (85%); normal intellectual functioning; grade-level academic performance; 16m-walk; normal speech; mild gross motor delay as an infant; normal fine motor milestones; no appendicular hypertonia/spasticity; deep tendon reflexes 1+ in biceps, triceps, absent in patella and ankles bilaterally; no extensor plantar responses; prominent distal leg weakness; sensory examination decreased vibration and proprioception in distal limbs; cerebellar testing slightly wide-based gait; no seizures; MRI brain normal except for Chiari I malformation; 10y-EMG/NCS severe demyelinating sensory motor polyneuropathy, normal amplitudes, mild-moderate prolonged distal latencies, significant slowing of conduction velocities 1 1 Johan den Dunnen
00326822 Pat4 PubMed: Djordjevic 2021, Journal: Djordjevic 2021 - M - France;Ireland - - - - - ? see paper; ..., height 165 cm (5%), weight 95.45 kg (95%), OFC 58 cm (~98%); 21y-moderate intelletual disability FSIQ 46; 18m-walk; 13m-first word, 2y6m-put 2 words together, dysarthria; ambulatory, ataxia, falls monthly, spasticity and increasing unsteadiness; can use utensils but prefers finger feeding, does not color within lines, needs assistance with most ADLs; severe, progressive, LEs≫UEs appendicular hypertonia/spasticity; deep tendon reflexes 3+ throughout, except 1+ at the ankles; extensor plantar responses; muscle strength not tested formally but grossly normal, no asymmetry; uncooperative for detailed sensory exam, hypersensitivity feet bilaterally; cerebellar testing slow finger to nose movements, clearly ataxic gait with bilateral circumduction, unable to perform tandem gait or stance; 6m-seizures, refractory generalized epilepsy, myoclonic, rarely atonic and absence; MRI brain non-specific white matter signal abnormalities, stable over time; 12y-EMG/NCS predominantly demyelinating sensory motor neuropathy, slow motor conduction velocities, markedly decreased amplitudes in tibial nerve, absent sural responses 1 1 Johan den Dunnen
00326823 Pat5 PubMed: Djordjevic 2021, Journal: Djordjevic 2021 - F - - Europe-West - - - - ? see paper; ..., height 116 cm (10%), weight 19.9 kg (20%), OFC 47 cm (~3%); mild/moderate intelletual disability, 7y-IQ £55; 2.5y-walk; language development initially normal, can use simple sentences, dysarthria; ambulatory, spastic gait; needs assistance with all activities of daily living; clearly present, progressive appendicular hypertonia/spasticity; deep tendon reflexes arms, 3+; legs, 4+ (crossed adductor reflex, sustained ankle clonus); extensor plantar responses; muscle strength not tested formally, no obvious weakness; detailed sensory exam not possible, light touch preserved; cerebellar testing mild intention tremor and dysmetria, unable to balance on one foot or perform tandem gait; 12m-seizures, head drop attacks, refractory to medications and ketogenic diet; 5y-MRI brain normal; 7y-EMG/NCS combined axonal and demyelinating polyneuropathy of both motor and sensory nerves 1 1 Johan den Dunnen
00326824 Pat6 PubMed: Djordjevic 2021, Journal: Djordjevic 2021 - F - Italy;Scotland;England - - - - - ? see paper; ..., height 157 cm (30%), weight 55.4 kg (63%), OFC 51 cm (<2%); severe global developmental delay/intellectual disability, reading, writing, and adaptive function at kindergarten level at age 14; 16m-walk; significant early speech delay, 3y-phrases but limited vocabulary, now short phrases, dysarthria; gross motor delay, ambulatory, spastic gait, mild ataxia; cuts own food but needs help with buttons and zippers, feeds self, needs assistance to bathe and toilet; moderate appendicular hypertonia/spasticity, all 4 limbs, LE > UE; deep tendon reflexes 3+ bilaterally; extensor plantar responses; muscle strength MRC grade 5/5 throughout; unable to cooperate with formal sensory exam; cerebellar testing no overt appendicular ataxia but mild gait ataxia and unable to perform tandem gait; no seizures; MRI brain initially delayed myelination, normalized by 14y; 6y/8y-EMG/NCS predominantly demyelinating polyneuropathy with slow conduction velocities 1 1 Johan den Dunnen
00326826 4H-37 PubMed: Wolf 2014 family, 2 affected - no - African-American - - - - HLD - 1 2 Johan den Dunnen
00326827 4H-58 PubMed: Wolf 2014 - - no Syria - - - - - HLD - 1 1 Johan den Dunnen
00326828 4H-25 PubMed: Daoud 2013 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326835 4H-23 PubMed: Daoud 2013 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326838 4H-27 PubMed: Daoud 2013 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326839 4H-26 PubMed: Daoud 2013 - - no - Europe-North - - - - HLD - 2 1 Johan den Dunnen
00326841 4H-29 PubMed: Daoud 2013 - - no - Europe-North - - - - HLD - 2 1 Johan den Dunnen
00326842 4H-28 PubMed: Daoud 2013 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326844 4H-72 PubMed: Wolf 2014 - - no - Europe-North - - - - HLD - 2 1 Johan den Dunnen
00326847 4H-34 PubMed: Wolf 2014 - - no - Hispanic - - - - HLD - 2 1 Johan den Dunnen
00326848 4H-F39 PubMed: Wolf 2014 - - no - white - - - - HLD - 1 1 Johan den Dunnen
00326850 4H-101 PubMed: Wolf 2014 - - no - Europe-East - - - - HLD - 2 1 Johan den Dunnen
00326851 4H-24 PubMed: Daoud 2013 - - no - Europe-North - - - - HLD - 2 1 Johan den Dunnen
00326852 4H-38 PubMed: Wolf 2014 - - no - African-American - - - - HLD - 2 1 Johan den Dunnen
00326853 4H-40 PubMed: Wolf 2014 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326854 4H-44 PubMed: Wolf 2014 family, 2 affected - yes - white - - - - HLD - 1 2 Johan den Dunnen
00326858 4H-45 PubMed: Wolf 2014 - - yes - white - - - - HLD - 1 1 Johan den Dunnen
00326859 4H-54 PubMed: Wolf 2007 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326860 4H-47 PubMed: Wolf 2014 - - no - Europe-West - - - - HLD - 2 1 Johan den Dunnen
00326861 4H-55 PubMed: Wolf 2014 family, 2 affected - no - Europe-West - - - - HLD - 2 2 Johan den Dunnen
00326862 4H-49 PubMed: Wolf 2007 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326863 4H-50 PubMed: Wolf 2005 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326864 4H-51 PubMed: Wolf 2005 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326865 4H-52 PubMed: Wolf 2014 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326866 4H-53 PubMed: Wolf 2005 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326867 4H-59 PubMed: Wolf 2007 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326868 4H-60 PubMed: Wolf 2014 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326869 4H-56 PubMed: Wolf 2014 - - no - Europe-West - - - - HLD - 2 1 Johan den Dunnen
00326870 4H-57 PubMed: Wolf 2014 - - no - Europe-West - - - - HLD - 2 1 Johan den Dunnen
00326871 4H-62 PubMed: Wolf 2014 - - no - Europe-West - - - - HLD - 2 1 Johan den Dunnen
00326873 4H-68 PubMed: Wolf 2014 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326874 4H-61 PubMed: Wolf 2014 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326875 4H-63 PubMed: Wolf 2014 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326876 4H-69 PubMed: Wolf 2014 - - no - Europe-West - - - - HLD - 2 1 Johan den Dunnen
00326877 4H-64 PubMed: Wolf 2014 family, 2 affected - no - white - - - - HLD - 1 2 Johan den Dunnen
00326878 4H-65 PubMed: Wolf 2014 - - no - white - - - - HLD - 1 1 Johan den Dunnen
00326879 4H-76 PubMed: Wolf 2014 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326881 4H-73 PubMed: Wolf 2014 family, 2 affected - no - Mediterranean - - - - HLD - 2 2 Johan den Dunnen
00326882 4H-70 PubMed: Wolf 2014 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326883 4H-84 PubMed: Wolf 2014 - - no - Europe-West - - - - HLD - 2 1 Johan den Dunnen
00326884 4H-71 PubMed: Wolf 2014 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326886 4H-98 PubMed: Wolf 2014 - - no - Europe-North - - - - HLD - 2 1 Johan den Dunnen
00326887 4H-74 PubMed: Wolf 2014 - - no - Mediterranean - - - - HLD - 2 1 Johan den Dunnen
00326891 4H-87 PubMed: Wolf 2014 family, 2 affected - yes - Mediterranean - - - - HLD - 1 2 Johan den Dunnen
00326894 4H-81 PubMed: Wolf 2014 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326895 4H-82 PubMed: Wolf 2014 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326896 4H-83 PubMed: Wolf 2014 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326897 4H-104 PubMed: Wolf 2014 family, 2 affected - no - white - - - - HLD - 2 2 Johan den Dunnen
00326900 4H-93 PubMed: Ozgen 2005 - - no - Europe-West - - - - HLD - 2 1 Johan den Dunnen
00326901 4H-88 PubMed: Wolf 2014 - - yes - Mediterranean - - - - HLD - 1 1 Johan den Dunnen
00326904 4H-95 PubMed: Wolf 2014 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326907 4H-94 PubMed: Wolf 2014 - - no - Europe-West - - - - HLD - 1 1 Johan den Dunnen
00326908 4H-96 PubMed: Wolf 2014 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326909 4H-102 PubMed: Wolf 2014 - - no - Europe-Central - - - - HLD - 1 1 Johan den Dunnen
00326911 4H-99 PubMed: Wolf 2014 - - no - Europe-North - - - - HLD - 2 1 Johan den Dunnen
00326913 4H-103 PubMed: Wolf 2014 - - no - Europe-Central - - - - HLD - 2 1 Johan den Dunnen
00326914 4H-78 PubMed: Wolf 2014 - - no - Europe - - - - HLD - 1 1 Johan den Dunnen
00326915 4H-105 PubMed: Wolf 2014 - - no - white - - - - HLD - 2 1 Johan den Dunnen
00326916 4H-35 PubMed: Wolf 2014 - - no - Europe-East - - - - HLD - 2 1 Johan den Dunnen
00326917 8401214 PubMed: Najmabadi 2011 family, 3 affected - yes Iran - - - - - ID mild-moderate intellectual disability, coarse face, short philtrum, obesity and speech problems, coarse face, short philtrum, obesity, speech problems 1 3 Johan den Dunnen
00326918 Pat1 PubMed: Richards 2017 - M - United States - - - - - ? see paper; ..., normosmic idiopathic hypogonadotropic hypogonadism; delayed puberty, delayed deepening of voice; normal size testes; horizontal nystagmus, pectus excavus 2 1 Johan den Dunnen
00326919 Pat2 PubMed: Richards 2017 - F - - white, Europe - - - - ? see paper; ..., normosmic idiopathic hypogonadotropic hypogonadism; normal pubertal growth spurt, stalled breast development and pubic hair growth, primary amenorrhoea; protruding ears, high arched palate, micrognathia, kidney cysts 2 1 Johan den Dunnen
00326920 Pat3a PubMed: Richards 2017 2-generation family, affected sister brother F - - white - - - - ? see paper; ..., normosmic idiopathic hypogonadotropic hypogonadism; absent puberty, primary amenorrhoe 2 2 Johan den Dunnen
00326921 Pat3b PubMed: Richards 2017 brother M - - white - - - - ? see paper; ..., normosmic idiopathic hypogonadotropic hypogonadism; absent puberty; IQ 76 2 1 Johan den Dunnen
00375649 Pat35 PubMed: Srivastava 2014 family, several affected - - United States - - - - - ? developmental regression; intellectual disability/developmental delay; tremor; hyper-reflexia; MRI brain hypomyelination, cerebellar atrophy 2 2 Johan den Dunnen
00430228 20D2602999 - - M - China East Asia - - - - KS Micropenis; anosmia; testicular hypotrophy 1 1 Dongye He
00438820 Pat17 PubMed: Mirchi 2023 - F - Canada - - - - - HLD hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; long palpebral fissures; flat midface; short philtrum; smooth philtrum; thin upper lip; full lower lip; short chin; broad and flat nasal bridge 2 1 Johan den Dunnen
00438821 Pat18 PubMed: Mirchi 2023 - F - Canada - - - - - HLD hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; pinched nose; smooth philtrum; depressed nasal bridge, retrognathia 1 1 Johan den Dunnen
00438822 Pat19 PubMed: Mirchi 2023 - M - Canada - - - - - HLD hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; flat midface; pinched nose; bulbous tip of the nose; smooth philtrum; thin upper lip; short chin 1 1 Johan den Dunnen
00438823 Pat20 PubMed: Mirchi 2023 - M - Canada - - - - - HLD hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; low-set ears; flat midface; pinched nose; deviating nasal root 2 1 Johan den Dunnen
00438824 Pat21 PubMed: Mirchi 2023 - M - Canada - - - - - HLD hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; telecanthus; short philtrum; smooth philtrum; thin upper lip; full lower lip; pointed chin; large ears 2 1 Johan den Dunnen
00438825 Pat22 PubMed: Mirchi 2023 - M - Canada - - - - - HLD hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; hypertelorism; long palpebral fissures; flat midface; smooth philtrum; thin upper lip; full lower lip; pointed chin; short nose 1 1 Johan den Dunnen
00438826 Pat23 PubMed: Mirchi 2023 - F - Canada - - - - - HLD hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; telecanthus; flat midface; full lower lip; short chin; inferior epicanthus 2 1 Johan den Dunnen
00438827 Pat24 PubMed: Mirchi 2023 - M - Canada - - - - - HLD hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; long palpebral fissures; flat midface; smooth philtrum; thin upper lip; hockey-stick palmar creases 2 1 Johan den Dunnen
00438828 Pat25 PubMed: Mirchi 2023 - M - Canada - - - - - HLD hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; long palpebral fissures; pinched nose; smooth philtrum; thin upper lip; hockey-stick palmar creases 2 1 Johan den Dunnen
00438829 Pat26 PubMed: Mirchi 2023 - F - Canada - - - - - HLD hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high forehead; hypertelorism; low-set ears; short philtrum; smooth philtrum; pointed chin; copped ears, low hanging columella 2 1 Johan den Dunnen
00438834 Pat31 PubMed: Mirchi 2023 - M - Canada - - - - - HLD hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; low-set ears; flat midface; bulbous tip of the nose; smooth philtrum; pointed chin; epicanthal fold 2 1 Johan den Dunnen
00438835 Pat1 PubMed: Yazidi 2019 - F - Canada - - - - - HLD - 2 1 Johan den Dunnen
00438836 Pat2 PubMed: Yazidi 2019 - F - Canada - - - - - HLD - 2 1 Johan den Dunnen
00438839 Pat5 PubMed: Yazidi 2019 - M - Canada - - - - - HLD - 2 1 Johan den Dunnen
00438841 Pat7 PubMed: Yazidi 2019 - M - Canada - - - - - HLD - 2 1 Johan den Dunnen
00438844 Pat10 PubMed: Yazidi 2019 - F - Canada - - - - - HLD - 2 1 Johan den Dunnen
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