All individuals with variants in gene PRMT10

35 entries on 1 page. Showing entries 1 - 35.
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00470717 FamAPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Algeria - - - - - ID see paper; ..., global psychomotor developmental delay; hypotonia; 9m-sit; 23m-walk; speech delayed expressive language; severe intellectual disability; autism spectrum disorder; Major anxiety; 7y-epilepsy; EEG biilateral temporo-occipital spikes and spike-waves discharges; MRI bilateral periventricular nodular heterotopia; flat facial profile; no ophthalmological features; bilateral postaxial polydactyly; spontaneously resolving pelviureteric junction obstruction; bilateral cryptorchidism 1 1 Johan den Dunnen
00470718 FamBPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 3 affected, unaffected heterozygous carrier parents M yes Iran - - - - - ID see paper; ..., global psychomotor developmental delay; 24m-sit; 3y-walk; speech 3y-first words, single words; moderate-severe intellectual disability; no autism spectrum disorder; behaviour quiet; no epilepsy; MRI normal; broad forehead, thick eyebrow, low set ears, thin upper lip; microphthalmia (left); bilateral foot polydactyly, left hand postaxial polydactyly, bilateral clinodactyly, hallux valgus; short stature 1 3 Johan den Dunnen
00470719 FamBPatII6 PubMed: Kroll-Hermi 2025 sister F yes Iran - - - - - ID see paper; ..., global psychomotor developmental delay; 15m-sit; 2y-walk; speech 1.4m-first words, single words; moderate-severe intellectual disability; no autism spectrum disorder; behaviour quiet; no epilepsy; broad forehead, thick eyebrow, thin upper lip; right hand postaxial polydactyly; short stature 1 1 Johan den Dunnen
00470720 FamBPatII7 PubMed: Kroll-Hermi 2025 brother M yes Iran - - - - - ID see paper; ..., global psychomotor developmental delay; 18m-sit; 2.5y-walk; speech 2y-first words, single words; moderate-severe intellectual disability; no autism spectrum disorder; behaviour quiet; no epilepsy; MRI normal; broad forehead, thick eyebrow, low set ears, thin upper lip; microphtalmia; left hand postaxial polydactyly; short stature 1 1 Johan den Dunnen
00470721 FamCPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Netherlands Caribbean - - - - ID see paper; ..., global psychomotor developmental delay; no hypotonia; 8m-sit; 16m-walk; speech 2y-first words, little speech; mild intellectual disability; autism spectrum disorder; behaviour normal; 1y-epilepsy; EEG diffuse beta-activity, multifocal isolated peaks (right frontotemporal), 1 generalised paroxysm; MRI normal; minimal frontal bossing with high frontal hairline; normal kidney 2 2 Johan den Dunnen
00470722 FamCPatII2 PubMed: Kroll-Hermi 2025 brother M - Netherlands Caribbean - - - - ID see paper; ..., global psychomotor developmental delay; failure to thrive; no hypotonia; 14m-sit; 18m-walk; speech 18m-first words, little speech; mild intellectual disability; no autism spectrum disorder; behaviour sometimes screaming; 1m-epilepsy; EEG normal; MRI white matter abnormalities; frontal bossing, high frontal hairline, posteriorly rotated ears; no skeletal abnormalities; normal kidney; cryptorchidism 2 1 Johan den Dunnen
00470723 FamDPatII1 PubMed: Kroll-Hermi 2025 adopted M - Macedonia - - - - - ID see paper; ..., mild intellectual disability; behavioural changes, hyperactivity; epilepsy; otapostasis, small ears; supernumerary nipple; ventricular septal defect; hydronephrosis (antenatal), bilateral vesicoureteral reflux grade IV; hyperprolinemia 1 1 Johan den Dunnen
00470724 FamEPatII3 PubMed: Kroll-Hermi 2025 2-generation family, 2 affected, unaffected heterozygous carrier parents M yes Morocco - - - - - ID see paper; ..., global psychomotor developmental delay; hypotonia; 23m-sit; not walking; soeech syllables; intellectual disability; no autism spectrum disorder; 4m-epilepsy; EEG mildly slow; MRI wide pericerebral spaces; plagiocephaly, wide open eyes, low frontal hairline; supernumerary nipple; hyperlaxity; normal kidney 1 2 Johan den Dunnen
00470725 FamEPatII5 PubMed: Kroll-Hermi 2025 brother M yes Morocco - - - - - ID see paper; ..., global psychomotor developmental delay; hypotonia; 12m-sit; 3y-walk; speech 4y-first words, dingle words; intellectual disability; mild autism spectrum disorder; behaviour angers; epilepsy (1 seizure); MRI normal; wide open eyes, low frontal hairline; hyperlaxity; normal kidney; cryptorchidism; constipation 1 1 Johan den Dunnen
00470726 FamFPatII3 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - ID see paper; ..., global psychomotor developmental delay; hypotonia (severe); 12m-sit (with support); not walking; moderate intellectual disability; no autism spectrum disorder; behaviour anxiety; no epilepsy; EEG normal (after birth and 4m); Normal brain US (6m); hypotelorism, bluish sclera, mongoloid lid axis, thin lips, short neck; phalanges shortening (middle and distal), tapering fingers; skelatal dysplasia, disproportional short stature, slight platyspondyly, cone-shaped ventral ribs and distal ulna, radius shortening, humerus+femur scoliosis; normal kidney; fetal pads (feet), delayed tooth eruption, recurrent infections 1 1 Johan den Dunnen
00470727 FamGPatII2 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Syria - - - - - ID see paper; ..., global psychomotor developmental delay; 2y-walk; speech 18m-first words, delayed expressive language; intellectual disability; behaviour quiet, shy; no epilepsy; MRI normal; hypertelorism, epicanthal folds, broad nasal bridge, thin upper lip, flat midface; no ophthalmological features; hairy legs+arms, 4-5 café-au-lait patches (torso); bilateral medial deviation dip joints of toes 4+5 bilaterally (curled toes); Ataxia and tremor, repeated ENT infections, ventilation tubes, tonsillectomy 1 1 Johan den Dunnen
00470728 FamHPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Hungary Roma - - - - ID see paper; ..., global psychomotor developmental delay; failure to thrive (NGT feeding); hypotonia; 4.5y-walk; speech poor expression language; severe intellectual disability; behaviour ADHD, major anxiety; epilepsy; supernumerary nipple, eczema; ventricular septal defect; recurrent urinary tract infections 1 1 Johan den Dunnen
00470729 FamIPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - India-N;Europe;Jamaica;Cuba;Afrika - - - - ID see paper; ..., global psychomotor developmental delay; 23m-walk; speech 3y6m-4y-first words, single words; moderate-severe intellectual disability; autism spectrum disorder (5th grade cluster); behaviour frequently brings objects/body parts to mouth; no epilepsy; MRI normal; prominent forehead, broad nasal root, low hanging columella with thin alae nasi, prominent anthelix, high arch palate with dental crowding, everted lower lip, elongated neck; strabismus (bilateral); flat chest with delayed breast development and puberty (Tanner stage 2) 2 1 Johan den Dunnen
00470730 FamJPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Brazil - - - - - ID see paper; ..., global psychomotor developmental delay; hypotonia; 9m-sit; 3y-walk4m-walk; speech 3y-first words, full sentences; moderate intellectual disability; no autism spectrum disorder; behaviour normal; 2y-epilepsy; EEG 9y-left parietal epileptiform paroxysms, 12y-diffuse slowdown in brain electrical activity; MRI normal; prominent forehead, hypertelorism, upslanting palpebral fissures, prominent columella; no ophthalmological features; hypertrichosis; hyperlaxity, frontal hyperostosis; cardiopathy (mild aortic insufficiency, dilated cardiomyopathy); normal kidney; 10y-hypothyroidism 2 2 Johan den Dunnen
00470731 FamJPatII2 PubMed: Kroll-Hermi 2025 brother M - Brazil - - - - - ID see paper; ..., global psychomotor developmental delay; no hypotonia; 1y9m-walk; speech 1y-first words, full sentences; mild intellectual disability; no autism spectrum disorder; behaviour anxiety; no epilepsy; MRI megacisterna magna; dolichocephaly, prominent forehead, depressed nasal bridge, anteverted nares, high arched palate; no ophthalmological features; left hand postaxial polydactyly; no heart defect; normal kidney 2 1 Johan den Dunnen
00470732 FamKPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Pakistan - - - - - ID see paper; ..., regression since epilepsy; hypotonia; 6m-sit; 1y-walk; speech 18m-first words, full sentences; mild intellectual disability; no autism spectrum disorder; behaviour quiet, shy; 6y-epilepsy; EEG multifocal raise of excitability (right frontal area), mainly sharp-slow-waves and spike-waves; MRI small stripe hyperintense medullary lesion (right frontal); hypotelorism, deep set eyes, mild synophrys, short and well modulated philtrum, arched upper lip; flat and broad feet, tapering fingers; normal kidney; obesity 1 1 Johan den Dunnen
00470733 FamLPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Albania - - - - - ID see paper; ..., global psychomotor developmental delay; no hypotonia; not walking; no speech, sounds; moderate-severe intellectual disability; behaviour anxiety, shy, very frequent crying, unable to deal with changes; 15m-suspicion epilepsy; EEG low threshold to epileptic seizures; high frontal hairline, long and down slanting palpebral fissures; no skeletal abnormalities 1 1 Johan den Dunnen
00470734 FamMPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - ID see paper; ..., global psychomotor developmental delay; no hypotonia; 8m-sit; 20m-walk; speech 2y-first words, word associations, no sentences; no autism spectrum disorder; behaviour tempermental; no epilepsy; MRI normal; prominent forehead, small ears, arched eyebrows, upslanting palpebral fissures, thin lips, mouth drooping corners; strabismus; growth retardation; retractile testicles 1 1 Johan den Dunnen
00470735 FamNPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - ID see paper; ..., global psychomotor developmental delay; failure to thrive (NGT feeding); hypotonia; 22m-sit; 26m-noy walking, standing with supportr; no speech, babbling; intellectual disability; no autism spectrum disorder; behaviour normal; no epilepsy; MRI normal; frontal bossing; esotropia; 1 café-au-lait patch, 1 slate grey nevus; no skeletal abnormalities; normal kidney; biilateral cryptorchidism 2 1 Johan den Dunnen
00470736 FamOPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 2 affected, unaffected heterozygous carrier parents F yes - white - - - - ID see paper; ..., global psychomotor developmental delay; no hypotonia; sit normal; 14m-walk; speech normal; mild intellectual disability; autism spectrum disorder; behaviour angry when opposed; no epilepsy; EEG normal; MRI normal; pes cavus, difficulties to climb stairs; normal kidney; diabetes; Hypertension 1 2 Johan den Dunnen
00470737 FamOPatII2 PubMed: Kroll-Hermi 2025 sister F yes - white - - - - ID see paper; ..., global psychomotor developmental delay; no hypotonia; 10m-sit; 24m-walk; no speech; severe intellectual disability; behaviour autoaggressivity; 9y-epilepsy; flat round face, broad eyebrows, hypertelorism, short neck, low posterior hair implantation; no skeletal abnormalities; normal kidney; obesity, diabetes mellitus 1 1 Johan den Dunnen
00470738 FamPPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - white - - - - ID see paper; ..., global psychomotor developmental delay; hypotonia; 14m-sit; 30m-walk; speech 2y6m-first words, 7y-no language; severe intellectual disability; autism spectrum disorder; behaviour autoaggressivity and with others; 12m-epilepsy; fingers and toes deformities; normal kidney 1 1 Johan den Dunnen
00470739 FamQPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - ID see paper; ..., global psychomotor developmental delay; failure to thrive; no hypotonia; 12m-sit; not walking, standing with support; speech 8m-first words, sngle words; mild-moderate intellectual disability; no autism spectrum disorder; behaviour normal; 3m-epilepsy (convulsive status epilepticus); EEG frequent pleomorphic slow waves (left hemisphere awaken), during sleep frontal spikes and right central area spikes and slow waves; MRI normal; no facial dysmorphism; no anomalies digits; no heart defect 2 1 Johan den Dunnen
00470740 FamRPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Syria - - - - - ID see paper; ..., global psychomotor developmental delay; no failure to thrive; hypotonia; 30m-walk; speech single words; mild-moderate intellectual disability; no autism spectrum disorder; behaviour friendly, from time to time stubborn; no epilepsy; EEG pathological with lively focal excitability temporo-parieto-occipital right-sided; MRI unspecific flair-hyperintensity bilateral paratrigonal, two arachnoidal cysts; low frontal hairline, thick eyebrows with indicated synophrys, small cupped, rather deep-set ears, long eyelashes, small teeth with rather wide interdental distance; strabismus convergens, hyperopia; no skin lesions; no anomalies digits; short stature, relative macrocephaly (OFC 51cm); atrial septal defect type II, valvular and peripher pulmonal stenosis; normal kidney; no genital anomalies; no endocrine features 1 1 Johan den Dunnen
00470741 FamSPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Colombia;Spain - - - - - ID see paper; ..., global psychomotor developmental delay; no failure to thrive; hypotonia; 18m-sit; 28m-walk; speech 5y-first words, single words; intellectual disability; autism spectrum disorder; behaviour normal; 11y-epilepsy; EEG independent left and right temporal and left frontal spikes (with sleep suggestive of predisposition to a mixed seizure disorder); MRI multiple perivascular spaces frontoparietal white matter (Incidentally and overall unremarkable); low-set and posteriorly rotated ears with large lobes, broad eyebrows, medial eyebrow flare, deep set eyes, mild retrognathia; astigmatism, hyperopia not requiring correction; back mild hypertrichosis; short stature, bilateral pes cavus; normal kidney; bilateral cryptorchidism; congenital hypothyroidism; Sacral dimple, broad-based gait 2 1 Johan den Dunnen
00470742 FamTPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Brazil - - - - - ID see paper; ..., global psychomotor developmental delay; no failure to thrive; no hypotonia; 10m-sit; 30m-walk; speech 36m-first words, normal speech; mild intellectual disability; no autism spectrum disorder; behaviour normal; 3y-epilepsy; EEG normal; MRI normal; frontal bossing, ocular hypertelorism, prominent nasal bridge, small and smooth filtrum, thin lips; no ophthalmological features; no skin lesions; absent distal phalanges of v fingers and toes; short stature, lumbar hyperlordosis, thoracic ciphosis; no heart defect; normal kidney; no genital anomalies; short stature in GH treatment, high TSH with normal free T4; Severe bronchiolitis complicated by nosocomial pneumonia with 4m, admitted to ICU for 80 days, one cardiopulmonary arrest with CPR, induced coma. 1 1 Johan den Dunnen
00470743 FamUPatII2 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iraq - - - - - ID see paper; ..., global psychomotor developmental delay; failure to thrive; hypotonia; 14m-sit; 26m-walk; speech 19m-first words, single words but not targeted; no autism spectrum disorder; no epilepsy; flat facial profile, thin upper lip; 21m-no ophthalmological features; no skin lesions; no anomalies digits; no skeletal abnormalities; atrial septal defect type II; normal kidney; no endocrine features 1 1 Johan den Dunnen
00470744 FamVPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Serbia - - - - - ID see paper; ..., no global psychomotor developmental delay; failure to thrive; hypotonia; 14m-sit; 3y-walk; speech 13m-first words, very verbal; N (IQ 95-98 intellectual disability; autism spectrum disorder (Asperger); no epilepsy; EEG normal; triangular face, broad bone nasal bridge; no ophthalmological features; no skin lesions; short 5th digits, proximal insertion of thumbs; no skeletal abnormalities; no heart defect; normal kidney; no genital anomalies; growth hormone treatment; Specific learning disabilities, very talented for foreign languages' learning, congenital anal stenosis (dilated non operatively constipation now present) 1 1 Johan den Dunnen
00470745 FamWPatII1 PubMed: Kroll-Hermi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Algeria - - - - - ID see paper; ..., global psychomotor developmental delay; failure to thrive; hypotonia; 21m-walk; speech 18m-first words, single words; intellectual disability; no autism spectrum disorder; behaviour anxiety, hyperactivity; 1y4m-1 febrile seizure; EEG normal; MRI retro-cerebellar cyst; triangular face, low set and ears with large lobes, low posterior hairline, low hanging columella, thin upper lip; no ophthalmological features; no skeletal abnormalities; patent ductus arteriosus; normal kidney; no genital anomalies; 5th finger ungueal dysplasia 1 1 Johan den Dunnen
00470746 FamXPatII8 PubMed: Kroll-Hermi 2025 2-generation family, 2 affected, unaffected heterozygous carrier parents F yes Syria - - - - - ID see paper; ..., no hypotonia; 12m-walk; speech contactable, 3y-delayed speech; mild intellectual disability; no autism spectrum disorder; behaviour introvert personality; no epilepsy; EEG normal; MRI mega cisterna magna; frontal prominency, microretrognathia, full lips; no ophthalmological features; freckles on her face; small hands, tapered finger, brachydactyly, square feet, metatarsus adductus, bilateral toe 4-5. clinodactyly; disproportionate short stature, muscular build, lumbar lordosis, acromelic shortness (upper and lower limbs), genu valgum, bilateral pes cavus, short metatarsals; no heart defect; no genital anomalies; puberte tarda (18y-menarche); Neurological examination: Slow saccadic eye movements, titubation, bilateral dysmetria, mild hand tremor, inability to squat due to short quadriceps ligament, gluteal dimple, distal muscle weakness, hyperactive deep tendon reflexes in the lower extremity, short achilles. Short quadriceps ligament operation 1 2 Johan den Dunnen
00470747 FamXPatII9 PubMed: Kroll-Hermi 2025 brother M yes Syria - - - - - ID see paper; ..., no global psychomotor developmental delay; no hypotonia; 18m-walk; speech contactable; mild-moderate intellectual disability; no autism spectrum disorder; behaviour impulsive; no epilepsy; EEG mild paroxysms; MRI mega cisterna magna; frontal prominency, deep set eyes, retrognathia, full lips; no ophthalmological features; no skin lesions; small hands, tapered finger, brachydactyly, square feet, metatarsus adductus, bilateral toe 4-5. clinodactyly; disproportionate short stature, muscular build, lumbar lordosis, acromelic shortness (upper and lower limbs), short metatarsals; no heart defect; no genital anomalies; Neurological examination: Slow saccadic eye movements, titubation, torticollis, hypoactive deep tendon reflexes in the upper extremity, hand tremor, bilateral dysmetria, gluteal dimple, inability to squat due to short quadriceps ligament, distal muscle weakness, short achilles. Short quadriceps ligament operation 1 1 Johan den Dunnen
00470748 FamYPatII3 PubMed: Kroll-Hermi 2025 2-generation family, 2 affected, unaffected heterozygous carrier parents F - - Hmong - - - - ID see paper; ..., global psychomotor developmental delay; failure to thrive; hypotonia; 2y-walk; speech some sign language; no epilepsy; MRI normal; no facial dysmorphism; no ophthalmological features; no skin lesions; no anomalies digits; no skeletal abnormalities; no heart defect; normal kidney; no genital anomalies; no endocrine features; poor feeding/oral aversion, mild obstructive sleep apnea 1 3 Johan den Dunnen
00470749 FamYPatII4 PubMed: Kroll-Hermi 2025 sister F - - Hmong - - - - ID see paper; ..., global psychomotor developmental delay; failure to thrive; hypotonia; not walking yet; speech babbles/mimics sounds; 2y-seizure-like episode; EEG normal; MRI central tegmental minor T2 hyperintensity tracts with some diffusion signal; no facial dysmorphism; no ophthalmological features; no skin lesions; no anomalies digits; no skeletal abnormalities; no heart defect; normal kidney; no genital anomalies; no endocrine features; poor feeding/oral aversion, severe central sleep apnea 1 1 Johan den Dunnen
00470750 FamYPatII5 PubMed: Kroll-Hermi 2025 brother M - - Hmong - - - - ID see paper; ..., global psychomotor developmental delay; failure to thrive; hypotonia; 9m-sit; not walking yet; speech not much, babbling/some screaming; no epilepsy; no facial dysmorphism; no ophthalmological features; no skin lesions; no anomalies digits; no skeletal abnormalities; no heart defect; normal kidney; no genital anomalies; no endocrine features; poor feeding 1 1 Johan den Dunnen
00470751 FamZPatII1 PubMed: Kroll-Hermi 2025 adopted M - Algeria - - - - - ID see paper; ..., global psychomotor developmental delay; hypotonia; 14m-walk; 4speech y-first words, sentences, slow expression; moderate intellectual disability; no autism spectrum disorder; behaviour quiet, slowness, anxiety; 11y-epilepsy; EEG abnormal background activity, spikes, spike-waves and polyspike-waves organized as cluster, eyelid and shoulder myoclonus. ; MRI subnormal (lateral ventricles enlargement and bilateral fronto-parietal cortical furrows); prominent nasal bridge, bulbus nose, fleshy ear lobes, thin lips, triangular eyebrows, long eyelashes, hypotonic face; spotty hypopigmented, dry skin, eczema; no skeletal abnormalities; no heart defect; small penis; dyspraxia 1 1 Johan den Dunnen
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