All individuals with variants in gene SMARCC1

11 entries on 1 page. Showing entries 1 - 11.
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00374121 - PubMed: Lefebvre 2021 fetus F - France - - - - - ? 24w-fetus, ultrasound Hydrocephaly; autopsy Hydrocephaly, Sylvius aqueduct stenosis, camptodactyly, unilateral simian crease 1 1 Johan den Dunnen
00434657 PatN6 PubMed: Chen 2022 - F - United States African-American - - - - NDD see paper; ..., 6m-developmental delay; 3y-walk, uses ankle foot orthotics; intellectual disability, no speech; intellectual disability; developmental delay; no learning disability; no attention deficit hyperactivity disorder; no seizures; no spasticity; no hypertonia; no hypotonia; dystonia; no open mouth; no drooling; no meningomyelocele; no polymicrogyria ; no pachygyria; no enlarged cisterna magna; facial asymmetry; epicanthal fold ; dysmorphic ears; asthma; no joint hypermobility; no scoliosis; no vertebral segmentation defect; no narrow chest; no talipes equinovarus; no clinodactyly; no umbilical hernia; no imperforated anus ; no rectovaginal fistula; no single kidney; MRI brain polymicrogyria and pachygyria 1 1 Johan den Dunnen
00434658 PatN7 PubMed: Chen 2022 - F - United States - - - - - NDD see paper; ..., motor delay, mild truncal hypotonia, mild hemihypertrophy left side ace, bilateral clinodactyly, hyperextensibility; attention deficit hyperactivity disorder, significant difficulties in school; MRI brain retrocerebellar fluid collection consistent with enlarged magna cisterna; no seizures; no intellectual disability; developmental delay, motor delay; learning disability; attention deficit hyperactivity disorder; no seizures; no spasticity; no hypertonia; hypotonia; difficulty moving arms and legs simultaneously; no open mouth; no drooling; no meningomyelocele; no polymicrogyria ; no pachygyria; enlarged cisterna magna; facial asymmetry, left face mild hemihypertrophy; no epicanthal fold ; no dysmorphic ears; no asthma; joint hypermobility; no scoliosis; no vertebral segmentation defect; no narrow chest; no talipes equinovarus; clinodactyly; no umbilical hernia; no imperforated anus ; no rectovaginal fistula; no single kidney; MRI brain retrocerebellar fluid collection consistent with an enlarged cisterna magna 1 1 Johan den Dunnen
00434788 PatN8 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434789 PatN9 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434790 twins PubMed: Mutairi 2018 family, monozygotic twin pair F - Saudi Arabia - - - - - NTD see paper; ..., mild developmental delay; meningomyelocele; scoliosis; vertebral segmentation defect; narrow chest; talipes equinovarus; umbilical hernia; imperforated anus ; rectovaginal fistula; single kidney 1 2 Johan den Dunnen
00434791 Hydro105-1 PubMed: Furey 2018 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HYC congenital hydrocephalus with aqueductal stenosis 1 1 Johan den Dunnen
00434792 Hydro106-4 PubMed: Furey 2018 3-generation family, 1 affected/2 fetuses died in utero, unaffected carrier father F - - - - - - - HYC congenital hydrocephalus with aqueductal stenosis; 2 fetuses died in utero from obstructive hydrocephalus 1 1 Johan den Dunnen
00434793 Hydro108-1 PubMed: Furey 2018 2-generation family, 1 affected, unaffected carrier father F - - - - - - - HYC congenital hydrocephalus with aqueductal stenosis 1 1 Johan den Dunnen
00434794 Hydro107-1 PubMed: Furey 2018 3-generation family, 1 affected, unaffected carrier mother (from unaffected carrier grandfather) M - - - - - - - HYC congenital hydrocephalus with aqueductal stenosis 1 1 Johan den Dunnen
00434795 Hydro109-1 PubMed: Furey 2018 2-generation family, 1 affected, unaffected non-carrier mother M - - - - - - - HYC congenital hydrocephalus with aqueductal stenosis 1 1 Johan den Dunnen
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