All individuals with variants in gene MARK2

31 entries on 1 page. Showing entries 1 - 31.
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00457222 Pat1 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism height 152cm (P75), weight (P50-75), OFC 53 cm (-1 SD); narrow face (HP:0000275), slight downslant palpebral fissures (HP:0000494), deep-set eyes (HP:0000490), strabismus (HP:0000486), prominent nasal tip (HP:0005274); no broad nasal root/philtrum; no prominent broad forehead; moderate intellectual disability, developmental delay; speech-language problems, language regression; motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior; sleep problems; gastrointestinal disturbance; no skeletal anomalies; vision problem; no hearing impairment; congenital heart defect; mild glandular hypospadia 1 1 Johan den Dunnen
00457223 Pat2 PubMed: Gong 2024, Journal: Gong 2024 - F - - - - - - - autism height 116.4cm (P89), weight 23.4kg (P90), OFC 50.5cm (P50l); prominent nasal pyramids, bulbous nasal tip; intellectual disability, developmental delay; speech-language problems, mild language regression; motor delay; no hypotonia, no hypertonia; seizures; autism spectrum disorder or autism-like behavior; MRI brain normal; EEG brain occasional generalized spike and wave discharges that are suggestive of generalized cortical irritability and lowered seizure threshold, occasional right parietal sharp wave discharges that are suggestive of focal cortical irritability and lowered seizure threshold.; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; hyperopia, astigmatism, visual processing difficulties,minor long eyelashes, synophrys, horizontal palpebral fissures, epicanthic folds; no hearing impairment; no congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457224 Pat7 PubMed: Gong 2024, Journal: Gong 2024 - F - - - - - - - autism big ear; intellectual disability, developmental delay; speech-language problems; autism spectrum disorder or autism-like behavior 1 1 Johan den Dunnen
00457225 Pat13 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism OFC normal; abnormal ear; intellectual disability, developmental delay; speech-language problems; no motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior; sleep problems; gastrointestinal disturbance; skeletal anomalies; no vision problem; no hearing impairment; no congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457226 Pat3 PubMed: Gong 2024, Journal: Gong 2024 - M - - - - - - - autism height 114cm (1SD), weight 20kg (1SD), OFC 51cm; no broad nasal root/philtrum; no prominent broad forehead; large ears; intellectual disability, developmental delay; speech-language problems, no language regression; no motor delay; no hypotonia, no hypertonia; seizures; autism spectrum disorder or autism-like behavior; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; no vision problem; no hearing impairment; no congenital heart defect; normal genital system; mild hypertrichosis 1 1 Johan den Dunnen
00457227 Pat28 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism OFC normal; intellectual disability, developmental delay; speech-language problems; motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; vision problem; no hearing impairment; no congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457228 Pat4 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism OFC normal; mild intellectual disability, developmental delay; mild speech-language problems; mild motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; epicanthal folds; no hearing impairment; no congenital heart defect; hypospadias 1 1 Johan den Dunnen
00457229 Pat29 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism OFC relative macrocephaly; intellectual disability, developmental delay; speech-language problems, no language regression; motor delay; no hypotonia, no hypertonia; seizures; autism spectrum disorder or autism-like behavior; EEG brain generalized bursts of slowing with admixed spikes; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; no vision problem; no hearing impairment; no congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457230 Pat5 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - autism height 134cm (>P97), weight 28kg (P96); intellectual disability, developmental delay; speech-language problems, no language regression; no motor delay; no hypotonia, no hypertonia; seizures; difficulty with loud sounds; MRI brain normal; EEG brain normal; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; myopia; no hearing impairment; no congenital heart defect; normal genital system; weak hand muscles 1 1 Johan den Dunnen
00457231 Pat23 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - autism weight 13.3kg (-1.93), OFC 48 cmcm (-1.2 SD); narrow face (HP:0000275), deep-set eyes HP:0000490, slight downslant palpebral fissures (HP:0000494), prominent nose (HP:0000448); no broad nasal root/philtrum; no prominent broad forehead; ear thick helix (HP:0000391); mild intellectual disability, developmental delay; speech-language problems, no language regression; no motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior, frustrated behavior, ADHD; sleep problems; no gastrointestinal disturbance; hypermobility; no vision problem; no hearing impairment; no congenital heart defect; normal genital system; sleeping problems at young age 1 1 Johan den Dunnen
00457232 Pat6 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - autism OFC normal; moderate intellectual disability, developmental delay; severe speech-language problems, language regression; mild motor delay; no hypotonia, no hypertonia; seizures; autism spectrum disorder or autism-like behavior; no sleep problems; no gastrointestinal disturbance; kyphosis 20 degrees; no vision problem; no hearing impairment; no congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457233 Pat8 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism height 121cm (P49), weight 19kg (P9.6); protuberant ears; intellectual disability, developmental delay; speech-language problems, speech regression, now speaks in broken phrases; motor delay; seizures; no autism spectrum disorder or autism-like behavior; MRI brain normal cystic lesion the superior cerebellar vermis; EEG brain intermittent C4 spikes with phase reversal; no sleep problems; no skeletal anomalies; microphthalmia; no hearing impairment; normal genital system 1 1 Johan den Dunnen
00457234 Pat12 PubMed: Gong 2024, Journal: Gong 2024 - F - - - - - - - autism severe intellectual disability, developmental delay; speech-language problems; motor delay; seizures; autism spectrum disorder or autism-like behavior, autotomy; MRI brain high signal at right cerebellar; EEG brain abnormal; sleep problems 1 1 Johan den Dunnen
00457235 Pat31 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - autism OFC normal; intellectual disability, developmental delay; speech-language problems; no motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; no vision problem; no hearing impairment; no congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457236 Pat9 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism height 112.4cm (P10), weight 22.9kg (P25), OFC 52.8cm (P50); short Forehead; low-set ears, posteriorly rotated auricles, overfolded/lopped helical rims.; severe intellectual disability, developmental delay; severe speech-language problems, language regression; no motor delay; no hypotonia, no hypertonia; seizures; autism spectrum disorder or autism-like behavior; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; ptosis; sparse eyebrows and straight lashes; short palpebral fissures, epicanthal folds, hooded superior eyelids, stellate irides, telecanthus; no hearing impairment; congenital heart defect; hypospadias 1 1 Johan den Dunnen
00457237 Pat30 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - autism height 119cm (>P97), weight 21.6kg (P90), OFC 52.5cm (P90-97); hypertelorism; broad nasal root and philtrum; prominent broad forehead; big ears; intellectual disability, developmental delay; speech-language problems, stagnation speech development; no motor delay; no hypotonia, no hypertonia; no seizures; 4y-autism spectrum disorder; MRI brain normal; EEG brain 1 episode of febrile convulsion; no sleep problems; gastrointestinal disturbance; no skeletal anomalies; no vision problem; no hearing impairment; no congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457238 Pat10 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism height 143cm (P97), weight 32kg (P75), OFC normocephalic (last measure 2018 53.2cm ); normal face; no broad nasal root/philtrum; no prominent broad forehead; intellectual disability, developmental delay; speech-language problems, no language regression; motor delay; hypotonia/hypertonia, truncal weakness, right spastic hemiparesis with brisk reflexes; seizures; autism spectrum disorder or autism-like behavior; MRI brain bilateral extensive cortical malformation; EEG brain abnormal; sleep problems; no gastrointestinal disturbance; no skeletal anomalies; no vision problem; no hearing impairment; no congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457239 Pat11 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism severe intellectual disability, developmental delay; speech-language problems; motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior; MRI brain normal; EEG brain normal; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; no vision problem; no hearing impairment; congenital heart defect; phimosis 1 1 Johan den Dunnen
00457240 Pat14 PubMed: Gong 2024, Journal: Gong 2024 - F - - - - - - - autism short stature (<P3); intellectual disability, developmental delay; speech-language problems; motor delay; autism spectrum disorder or autism-like behavior 1 1 Johan den Dunnen
00457241 Pat17 PubMed: Gong 2024, Journal: Gong 2024 - F - - - - - - - autism height 135.5cm (P95), weight 42.5kg (P99), OFC; speech-language problems, no language regression; no hypotonia, no hypertonia; seizures; autism spectrum disorder or autism-like behavior, ADHD, oppositional defiant disorder, anxiety attacks; MRI brain normal; EEG brain occasional spike and wave discharges in the left central, centroparietal and occipital region that are suggestive of focal cortical irritability and lowered seizure threshold in this area, occasional intermittent focal slowing in the central regions that is suggestive of focal neuronal dysfunction in this area; sleep problems, insomnia; no gastrointestinal disturbance; no skeletal anomalies; no vision problem; no hearing impairment; no congenital heart defect; normal genital system; hypothyroidism, recurrent epistaxis 1 1 Johan den Dunnen
00457242 Pat16 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism height 161cm (<P3), weight 42.6kg (<P3), OFC 56.5cm; full lips, short philtrum; large nasal base, anteverted nares; no prominent broad forehead; ear dysplasia; intellectual disability, developmental delay; speech-language problems, no language regression; no motor delay; no hypotonia, no hypertonia; seizures; autism spectrum disorder or autism-like behavior, stereotypy, agitation; MRI brain thin splenium of corpus callosum; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; no vision problem; no hearing impairment; no congenital heart defect; normal genital system; obstrictive uropathy (surgery) 1 1 Johan den Dunnen
00457243 Pat27 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism height 180cm (+1SD), weight 60.4kg (-1SD), OFC 57cm (+1SD); normal face; no broad nasal root/philtrum; no prominent broad forehead; small low set ears; intellectual disability, developmental delay; delayed speech, delayed language development, no language regression; no motor delay; no hypotonia, no hypertonia; seizures; autism spectrum disorder or autism-like behavior, difficult social relationships; MRI brain normal; EEG brain normal; no sleep problems; esopageal atresia, frequent vomiting during childhood; broad hallux; Strabismus; no hearing impairment; no congenital heart defect; normal genital system; generalized joint laxity 1 1 Johan den Dunnen
00457244 Pat25 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - autism height 120cm (>P97), weight 22.5kg (>P97); intellectual disability; speech-language problems, no language regression; no motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior; MRI brain normal; EEG brain normal; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; no vision problem; no hearing impairment; no congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457245 Pat15 PubMed: Gong 2024, Journal: Gong 2024 - M - - - - - - - autism height 176cm, weight 69kg, OFC normal; slender face; slender nose with narrow poointy tip; prominent broad forehead; normal ears; severe intellectual disability, developmental delay; speech-language problems; motor delay; anamnestically seizures; autism spectrum disorder or autism-like behavior, obsessive-compulsive behaviour (often hand wringing), self-injourous; MRI brain normal; EEG brain normal; no sleep problems; no gastrointestinal disturbance; thorasic scoliosis; no vision problem; no hearing impairment; genital system continence varies 1 1 Johan den Dunnen
00457246 Pat18 PubMed: Gong 2024, Journal: Gong 2024 - M - - - - - - - autism height 142.5cm (P50), weight 32.7kg (P50), OFC 54cm; ear abnormal helix; mild-borderline intellectual disability, developmental delay; speech-language problems, no language regression; motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior; EEG brain normal; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; bilateral myopia >-3D; no hearing impairment; no congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457247 Pat26 PubMed: Gong 2024, Journal: Gong 2024 - M - - - - - - - autism height 104cm (P90), weight 18kg (P97), OFC 51cm (+1SD); intellectual disability, developmental delay; severe speech-language problems, language regression; motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior; MRI brain normal; no sleep problems; gastrointestinal disturbance; no skeletal anomalies; no vision problem; no hearing impairment; no congenital heart defect; normal genital system; cafe au lait spot, lock of red hair 1 1 Johan den Dunnen
00457248 Pat19 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism height 100cm (P25), weight 17kg (P25), OFC 57cm (P50); intellectual disability, developmental delay; severe speech-language problems, language regression; no motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior; MRI brain normal; EEG brain normal; sleep problems; no gastrointestinal disturbance; skeletal anomalies, syndactyly; strabismus; no hearing impairment; no congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457249 Pat24 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - autism height 180 cm (+1.5 SD), OFC 1.03 SD; slight downslant palpebral fissures (HP:0000494), deep-set eyes (HP:0000490), upturned nose (HP:0000463), prominent philtrum, deep philtrum (HP:0000463), long philtrum (HP:0000343), thick vermillion border HP:0012471); no broad nasal root/philtrum; no prominent broad forehead; severe intellectual disability, developmental delay; speech-language problems, no language regression; motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior, frustrated sometimes agrressive behavior; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; no vision problem; no hearing impairment; no congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457250 Pat20 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism height 118cm (P25, -1SD), weight 21kg (0 SD; P50); broad high forehead (HP:0000337;HP:0000348), downslant palpebral fissures (HP:0000494), thick vermillion border HP:0012471), broad philtrum (HP:0000289); broad nasal root and philtrum; prominent broad forehead; severe intellectual disability, developmental delay; severe speech-language problems, severe language regression; motor delay; no hypotonia, no hypertonia; autism spectrum disorder or autism-like behavior, no eye contact; no sleep problems; no gastrointestinal disturbance; no skeletal anomalies; no vision problem; no hearing impairment; congenital heart defect; normal genital system 1 1 Johan den Dunnen
00457251 Pat21 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - autism height 108cm (<P3), weight 32kg (P10), OFC 50.5cm (P3); slightly distinctive face; broad nasal root; not striking; mildy dysplastic, notched upper ear; severe intellectual disability, developmental delay; speech-language problems, no language regression; motor delay; hypotonia/hypertonia; no seizures; autism spectrum disorder or autism-like behavior; MRI brain mild opercular hypoplasia; EEG brain epileptogenic in infancy; sleep problems, sleep apnea; gastrointestinal disturbance, G-tube fed, reflux, constipation; scoliosis, hip dysplasia, limb length discrepancy; strabismus; probable auditory neuropathy; no congenital heart defect; normal genital system; unexplained hypercalcemia 1 1 Johan den Dunnen
00457252 Pat22 PubMed: Gong 2024, Journal: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - autism height 3y-96 cm (-0.98 SD), weight 3y-17.6 kg (1.02 SD), OFC 3y-49cm (-1.04 SD); no broad nasal root/philtrum; mild intellectual disability, developmental delay; speech-language problems, no language regression; motor delay; no hypotonia, no hypertonia; no seizures; autism spectrum disorder or autism-like behavior, sometimes frustrated,shy, however social behavior; no sleep problems; no gastrointestinal disturbance; hypermobility; no vision problem; no hearing impairment; no congenital heart defect; burried penis 1 1 Johan den Dunnen
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