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["Table S1  Summary of the clinical features of the patients."]
["Patients clinical data","Our patient",null,"Khan et al.2012",null,null,"Abbasi-Moheb et al. (2012)",{"$nulls":7},"Martinez et al. (2012)",null,null,"Fahiminiya\net al.\n(2014)","Komara\net al.\n(2015)","Mu\net al.\n(2019)","Sun et al. (2020)",null,null,"Kato et al. (2021)",{"$nulls":3},"Pingree et\nal. (2021)","Total"]
[]
["Variants in NSUN2\n(NM_019108.3)","Patient 1","Patient 2","Patient 3","Patient 4","Patient 5","Patient 6","Patient 7","Patient 8","Patient 9","Patient 10","Patient 11","Patient 12","Patient 13","Patient 14","Patient 15","Patient 16","Patient 17","Patient 18","Patient 19","Patient 20","Patient 21","Patient 22","Patient 23","Patient 24","Patient 25","Patient 26","Patient 27","N=27"]
[null,"c.1171_1175delACCAT(p.Thr391fs*18)","c.1171_1175delACCAT(p.Thr391fs*18)"," c.2035G>A (p.Gly679Arg)"," c.2035G>A (p.Gly679Arg)"," c.2035G>A (p.Gly679Arg)","c.679C>T\n(p.Gln227*)","c.679C>T\n(p.Gln227*)","c.679C>T\n(p.Gln227*)","c.679C>T\n(p.Gln227*)","c.679C>T\n(p.Gln227*)","c.679C>T\n(p.Gln227*)","c.538-11T>G(p.Ile179Argfs*192)","c.538-11T>G(p.Ile179Argfs*192)","c.538-1G>C","c.538-1G>C","c.538-1G>C","c.915del\n(p.Gly306\nValfs*15)","c.1020\ndelA(p.Gly341Valfs*15)","c.1020\ndelA(p.Gly341Valfs*15)","c.1004T>\nA (p.\nLeu335*)","c.1004T>\nA (p.\nLeu335*)","c.1004T>\nA (p.\nLeu335*)","c.546_547insCT,\n(p.Met183Leufs*13);\nc.1583del,\n(p.Pro528Hisfs*19)","c.546_547insCT,\n(p.Met183Leufs*13);\nc.1583del,\n(p.Pro528Hisfs*19)","c.1269-\ndup, (p.Val-\n424Cysfs*14)","c.1269-\ndup, (p.Val-\n424Cysfs*14)","c.360-1G>C\n(IVS3-\n1G>C);\nc.787G>T\n(p.D263Y)","Missense=2\nFrameshift=6\nSplicing=3\nnonsense=2"]
["Gender","Male","Male","Female","Female","Female","Male","Female","Female","Female","Female","Male","Female","Male","Male","Female","Female","Male","Male","Male","Female","Female","Female","Female","Male","Female","Male","Male","13 females and 12 males"]
["Age at last examination",9,6,14,13,6,29,28,17,61,27,22,9,6,"n.r.","n.r.","n.r.",6,16,21,20,4,4,16,11,17,12,3]
["Walking","W=3y","W=4y3m","\nBroad gait; W=5y\n","\nBroad gait; W=4y\n","\n W=5y\n","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","Walking delay;broad\ngait","Walking delay;broad\ngait;W=4y","n.r.","Can Walk with\nhelp, but unstable;W=10y","Can Walk with\nhelp, but unstable;W=4y","Can Walk with\nhelp, but unstable;W=4y","W=6y","W=4y","W=4y","Delayed walking","W=1.8y","15/15 "]
["Development of speech and language skills","Nonverbal","Nonverbal","Speaks only a few words,dysarthric","Speaks only a few words,dysarthric","Nonverbal","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","Delayed speech","Delayed speech","Delayed speech","n.r.","Nonverbal","n.r.","Nonverbal","Nonverbal","Nonverbal","Nonverbal","Nonverbal","Nonverbal","Nonverbal","Nonverbal","17/17"]
["Intellectual disability"," ＋"," ＋＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋ ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋ ＋"," ＋"," ＋"," ＋ ＋"," ＋ ＋"," ＋"," ＋"," ＋","27/27"]
["Microcephaly"," ＋"," ＋"," ＋(-2.9SD)"," ＋(-3.4SD)"," ＋(-3.5SD)"," ＋（-2.2SD","－","－"," ＋（-7.1SD"," ＋（-2.1SD"," ＋（-3.3SD）"," ＋（-2.9SD）"," ＋（-2.8SD）"," ＋(<-4SD)"," ＋(<-4SD)"," ＋(<-4SD)","n.r."," ＋(<-3SD)"," ＋"," ＋(<-3SD"," ＋(−4.25 SD)"," ＋(−4.25 SD"," ＋(−5.6 SD)"," ＋（−3.4 SD）"," ＋(−6 SD)"," ＋（−4 to −5 SD）"," ＋（~34th）","24/26"]
["Short stature"," ＋"," ＋"," ＋(-1.4SD)"," ＋(-3SD)","n.r.","－"," ＋（-3.1SD）"," ＋（-2.9SD）"," ＋（-2.3SD","－","－"," ＋（-4.1SD）"," ＋（-3.8SD）"," ＋"," ＋"," ＋","n.r."," ＋(<-3SD)"," ＋"," ＋（<-3SD）"," ＋(−4.07 SD)"," ＋(−3.83 SD)"," ＋(−6 SD)"," ＋（−3.8 SD）"," ＋"," ＋"," ＋","23/26"]
["Eye findings","Right upper eyelid ptosisptosis, long palpebral","Long palpebral fissures","Right-eye strabismus","－","Esotropia and horizontal nystagmus","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","Hypertelorism,\nblepharophimosis,\ntelecanthus","Hypertelorism,\nblepharophimosis,\ntelecanthus","Hypertelorism,\nblepharophimosis,\ntelecanthus","Blepharophimosis, hypertelorism,\nbilateral ptosis","Down\nslanting\npalpebral\nfissures","n.r.","Hypertelorism,\nptosis, long\npalpebral\nfissures","Hypertelorism,\nptosis, long\npalpebral\nfissures","Hypertelorism,\nptosis, long\npalpebral\nfissures","Bilateral cataracts","Bilateral cataracts","－","－","Bilateral epiblepharon,\nstrabismus","15/18"]
["Facial dysmorphism"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋","27/27"]
["Muscular hypertonia ","－"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋"," ＋","－","－"," ＋"," ＋"," ＋","n.r.","n.r.","n.r."," ＋"," ＋"," ＋"," ＋"," ＋","－","－","－","18/24"]
["Brain radiologic\nfeatures","Normal","Myelination delay","N.R.","N.R.","N.R.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","Normal","Normal","Normal","Cerebellar atrophy"," Mild cerebellar atrophy","Cerebellum hypoplasia","n.r.","n.r.","n.r.","－","－","hypomyelination, a dysplastic corpus callosum and a simplified gyral\npattern of the frontal lobe","Delayed myelination, a mildly dysplastic corpus callous, and simple frontal gyral pattern","－","6/13"]
["Feeding issues","－"," ＋","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","－","－","－","n.r.","n.r.","n.r."," ＋"," ＋"," ＋","n.r.","n.r."," ＋","n.r."," ＋","6/10 "]
["Delayed\npuberty","n.r.","n.r."," ＋","－","－","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r."," ＋"," ＋","+","n.r.","n.r."," ＋","+","+","+","N.R.","8/10"]
["Ataxia/gait abnormality","－","－"," ＋"," ＋","－","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","－","－","－","－"," ＋"," ＋","－","－","－","－","－","－"," ＋"," ＋","－"]
["Seizures","Epileptic,\nseizures","－","－","－","－","－","－","－","－","－","－","－","seizures","epileptic\nseizures","－","－","－","－","－",null,"－","－","－","－","－","Mild spasticity","NR"]
["Skeletal or limb abnormalities","－","－","Bilateral pes cavus and tight\nleft Achilles","Left foot pes cavus, bilateral equinus position\nand tight Achilles, and hyperseparation\nbetween first and second toes","Partial bilateral syndactyly\nof the fourth and fifth toes","－","－","－","－","－","－","－","－","－","－","－","－","Recurrent falls with fractures at different sites,  severe osteoporosis ","Osteoporosis","Slender hands and fingers, light palmar creases,\nand hallux valgus,two fingers of each hand could move, ","－","Varus right foot","－","－","－","－","clinodactyly of the fifth digit and abnormal helices,hearing loss,"]
["Hearing impairment","－"," ＋","－","－","－","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","－","－","－","－","－","－","－","－","－","－"," ＋"," ＋","－","－"," ＋"]
["other","－","－","Small midline uterus, thin endometrium, and ovaries were not visible","－","－","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","n.r.","crypt-orchidism","－","－","Eczema","n.r.","－","－","Fecal and urine incontinence,undeveloped breasts, no pubic hair, and amenorrhea","－","－","\nHeardecreased size of the uterusing impairment,growth hormone (GH) deficiency","Growth hormone (GH) deficiency,cryptorchism","Vesicoureteral reflux and slightly echogenic kidneys with loss of corticomedullary differentiation,eczema","Eczema and an absent left testis","\nShuddering\nspells"]
["The following abbreviations are used: n.r., not reported; SD, standard deviation;GH,growth hormone"]