All individuals with variants in gene SRSF1

17 entries on 1 page. Showing entries 1 - 17.
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00410800 Pat13 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - NDD no complications pregnancy; birth 39w; neonatal complications; no failure to thrive; truncal overweight; intellectual disability/developmental delay; motor delay; speech delay; no behavioral disorders; hypotonia; no seizures; MRI brain abnormal; no hearing loss; vision problems; no cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; facial features 1 1 Johan den Dunnen
00410801 Pat9 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents M - - - - - - - NDD no complications pregnancy; birth at term; neonatal complications; no failure to thrive; no truncal overweight; borderline intellectual disability/developmental delay; no motor delay; speech delay; behavioral disorders; no hypotonia; no seizures; MRI brain normal; hearing loss; normal vision; cardiac anomalies; urogenital/kidney anomalies; no scoliosis; no pectus deformity; L1 vertebral hypoplasia; kyphosis; facial features 1 1 Johan den Dunnen
00410802 Pat16 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - NDD no complications pregnancy; birth 38w; neonatal complications; no failure to thrive; no truncal overweight; intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; seizures; MRI brain abnormal; no hearing loss; normal vision; no cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; facial features 1 1 Johan den Dunnen
00410803 Pat12 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - NDD no complications pregnancy; birth 41w; no neonatal complications; failure to thrive; no truncal overweight; moderate intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; no hypotonia; no seizures; MRI brain normal; no hearing loss; no cardiac anomalies; no scoliosis; no pectus deformity; facial features 1 1 Johan den Dunnen
00410804 Pat15 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents M - - - - - - - NDD complications pregnancy; birth 39w; no neonatal complications; no failure to thrive; no truncal overweight; mild intellectual disability/developmental delay; no motor delay; speech delay; behavioral disorders; hypotonia; no seizures; no hearing loss; vision problems; no cardiac anomalies; urogenital/kidney anomalies; scoliosis; pectus deformity; metatarsus varus; arachnodactyly; facial features 1 1 Johan den Dunnen
00410805 Pat14 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents M - - - - - - - NDD complications pregnancy; birth 41w; neonatal complications; failure to thrive; no truncal overweight; mild intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; seizures; no hearing loss; normal vision; cardiac anomalies; no urogenital anomalies; no kidney anomalies; hernia, diastasis; scoliosis; pectus deformity; dolichostenomelia; equinovarus; postaxial hexadactyly; facial features 1 1 Johan den Dunnen
00410806 Pat10 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected (incl. Hermansky Pudlak syndrome), unaffected carrier parents M - - - - - - - HPS, NDD 2 sisters also affected with Hermansky-Pudlak syndrome, no complications pregnancy; no neonatal complications; failure to thrive; no truncal overweight; severe intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; seizures; MRI brain normal; no hearing loss; vision problems; cardiac anomalies; urogenital/kidney anomalies; no scoliosis; no pectus deformity; asymmetric chest; facial features 1 1 Johan den Dunnen
00410807 Pat7 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents M - - - - - - - NDD complications pregnancy; birth 31w; no neonatal complications; no failure to thrive; no truncal overweight; severe intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; no hypotonia; no seizures; MRI brain abnormal; no hearing loss; normal vision; no cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; facial features 1 1 Johan den Dunnen
00410808 Pat1 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected non-carrier mother M - - - - - - - NDD see paper; ..., developmental delay, complications pregnancy; birth 36w; neonatal complications; failure to thrive; truncal overweight; mild/moderate intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; no seizures; MRI brain abnormal; no hearing loss; vision problems; cardiac anomalies; no urogenital anomalies; no kidney anomalies; polycystic spleen; scoliosis; no pectus deformity; genu varum, equinovarus; facial features 1 1 Johan den Dunnen
00410809 Pat5 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - NDD no complications pregnancy; birth 39w; no neonatal complications; no failure to thrive; no truncal overweight; mild intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; buccal hypotonia; no seizures; MRI brain normal; no hearing loss; normal vision; no cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; brachymetatarsia; fallen arches; facial features 1 1 Johan den Dunnen
00410810 Pat11 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - NDD no complications pregnancy; birth at term; neonatal complications; no failure to thrive; no truncal overweight; moderate intellectual disability/developmental delay; no motor delay; no speech delay; behavioral disorders; no hypotonia; no seizures; MRI brain normal; no hearing loss; normal vision; no cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; facial features 1 1 Johan den Dunnen
00410811 Pat4 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents M - - - - - - - NDD no complications pregnancy; birth at term; neonatal complications; no failure to thrive; no truncal overweight; no motor delay; speech delay; behavioral disorders; hypotonia; no seizures; MRI brain normal; no hearing loss; no cardiac anomalies; urogenital/kidney anomalies; scoliosis; pectus deformity; arachnodactyly; facial features 1 1 Johan den Dunnen
00410812 Pat8 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 PubMed: Bogaert 2023, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016} F - - - - - - - NDD no complications pregnancy; birth 38w; no neonatal complications; failure to thrive; no truncal overweight; severe intellectual disability/developmental delay; motor delay; speech delay; no behavioral disorders; hypotonia; no seizures; MRI brain abnormal; no hearing loss; vision problems; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; no facial features 1 1 Johan den Dunnen
00435063 FamPat2 PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, affected sister/brother, unaffected carrier parents F - - - - - - - NDD complications pregnancy; birth 40w; no neonatal complications; no failure to thrive; no truncal overweight; mild/moderate intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; no seizures; MRI brain abnormal; no hearing loss; vision problems; cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; facial features 1 2 Johan den Dunnen
00435064 FamPat3 PubMed: Bogaert 2023, Journal: Bogaert 2023 brother M - - - - - - - NDD no complications pregnancy; birth 38w; neonatal complications; no failure to thrive; trunk adiposity; mild/moderate intellectual disability/developmental delay; motor delay; speech delay; no behavioral disorders; hypotonia; no seizures; MRI brain normal; no hearing loss; normal vision; no cardiac anomalies; urogenital/kidney anomalies; scoliosis; no pectus deformity; facial features 1 1 Johan den Dunnen
00435065 Pat6 PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - NDD no complications pregnancy; birth 37w; neonatal complications; no truncal overweight; intellectual disability/developmental delay; motor delay; speech delay; no behavioral disorders; no hypotonia; no seizures; vision problems; cardiac anomalies; no scoliosis; pectus deformity; facial features 1 1 Johan den Dunnen
00435066 Pat17 PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - NDD complications pregnancy; neonatal complications; failure to thrive; no truncal overweight; intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; no seizures; no hearing loss; vision problems; no scoliosis; no pectus deformity; genu valgum; facial features 1 1 Johan den Dunnen
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