All individuals with variants in gene SMARCE1

32 entries on 1 page. Showing entries 1 - 32.
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VIP     
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00048041 Pat24;Pat24 PubMed: Tsurusaki 2012, PubMed: Tsurusaki 2014 - F - Japan - - - - - CSS see paper; ... 1 1 Eline van der Sluijs
00048042 K2442 PubMed: Wieczorek 2013 - F - - - - - - - CSS see paper; ..., birth 38w; intellectual disability; 18 m-sit, 54m-walk; speech no words, only vocalization; no hypotonia; no seizures; frequent infections; feeding problems; no behavioural anomalies; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; no macroglossia; short philtrum; no long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no prominent distal phalanges; sandal gap; delayed bone age; no scoliosis; ASD, dextropositio cordis, slightly pulmonal hypertension, enlarged right ventricle; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; nail a/hypoplasia; ?; small cerebellum; Dandy-Walker anomaly; abnormal corpus callosum; 1 1 Eline van der Sluijs
00048054 - PubMed: Santen 2013 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00091826 NF2 00227 PubMed: Louvrier 2018 - M - France - - - - - meningioma - 1 1 Beatrice Parfait
00091827 NF2 00267 PubMed: Louvrier 2018 - F - France - - - - - meningioma - 1 1 Beatrice Parfait
00091828 NF2 00394 PubMed: Louvrier 2018 - M - France - - - - - meningioma - 1 1 Beatrice Parfait
00174016 Pat1 PubMed: Zarate 2016 - M - - - - - - - CSS - 1 1 Julia Lopez
00174017 Pat2 PubMed: Zarate 2016 - F - - - - - - - CSS - 1 1 Julia Lopez
00174018 Pat3 PubMed: Zarate 2016 - F - - - - - - - CSS - 1 1 Julia Lopez
00174080 II1, Fam4 PubMed: Smith MJ 2013 - F - - - - - - - meningioma clear cell; spinal 1 1 Julia Lopez
00174081 I2, Fam1 PubMed: Smith MJ 2013 - F - - - - - - - meningioma clear cell; spinal 1 1 Julia Lopez
00174082 II1, Fam2 PubMed: Smith MJ 2013 - F - - - - - - - meningioma clear cell; spinal 1 1 Julia Lopez
00174083 - PubMed: Smith MJ 2014 - F - - - - - - - meningioma clear cell; spinal 1 1 Julia Lopez
00174084 - PubMed: Smith MJ 2014 - F - - - - - - - meningioma clear cell; spinal/cranial 1 1 Julia Lopez
00174085 - PubMed: Smith MJ 2014 - F - - - - - - - meningioma clear cell; spinal 1 1 Julia Lopez
00174086 IV2 PubMed: Gerkes EH 2016 - M - - - - - - - meningioma clear cell meningeoma/ right cerebello-pontine angle 1 1 Julia Lopez
00174087 II1, Fam3 PubMed: Smith MJ 2013 - M - - - - - - - meningioma clear cell; spinal 1 1 Julia Lopez
00174088 II1, Fam4 PubMed: Smith MJ 2013 - F - - - - - - - meningioma clear cell; spinal 1 1 Julia Lopez
00174089 - PubMed: Smith MJ 2014 - M - - - - - - - meningioma clear cell; spinal 1 1 Julia Lopez
00174094 I2, Fam2 PubMed: Smith MJ 2013 - F - - - - - - - meningioma clear cell; spinal 1 1 Julia Lopez
00174095 II1, Fam2 PubMed: Smith MJ 2013 - F - - - - - - - meningioma clear cell; spinal 1 1 Julia Lopez
00174096 - PubMed: Smith MJ 2014 - F - - - - - - - meningioma clear cell; spinal/cranial 1 1 Julia Lopez
00174097 - PubMed: Smith MJ 2014 - F - - - - - - - meningioma clear cell; cranial 1 1 Julia Lopez
00174205 - PubMed: Smith MJ 2014 no evidence of disease at 71y M - - - - - - - Healthy/Control - 1 1 Julia Lopez
00174206 I1, Fam4 PubMed: Smith MJ 2013 ? - - - - - - - - Healthy/Control - 1 1 Julia Lopez
00174207 IV1 PubMed: Gerkes EH 2016 - F - - - - - - - Healthy/Control - 1 1 Julia Lopez
00174208 IV3 PubMed: Gerkes EH 2016 - M - - - - - - - Healthy/Control - 1 1 Julia Lopez
00174209 III2 PubMed: Gerkes EH 2016 - M - - - - - - - Healthy/Control - 1 1 Julia Lopez
00174210 III5 PubMed: Gerkes EH 2016 - F - - - - - - - Healthy/Control - 1 1 Julia Lopez
00174211 - PubMed: Smith MJ 2014 - M - - - - - - - Healthy/Control - 1 1 Julia Lopez
00374122 - PubMed: Lefebvre 2021 fetus M - France - - - - - ? 31w-fetus, ultrasound intrauterine growth retardation, corpus callosum agenesis; autopsy intrauterine growth retardation, corpus callosum agenesis, complex cardiopathy, arhinencephaly 1 1 Johan den Dunnen
00434807 Pat4 PubMed: Gofin 2022 2-generation family, 1 affected, unaffected non carrier parents F - United States - - - - - CSS see paper; ..., atrioventricular canal defect; boirth 37w, small; dysmorphic features, hypoplasia fifth digits/nails; Morgagni-type diaphragmatic hernia, pyloric stenosis, sensorineural hearing loss; developmental delay, intellectual disability; 11m-sit 1 1 Johan den Dunnen
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