All individuals with variants in gene CENPF

14 entries on 1 page. Showing entries 1 - 14.
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00034029 - PubMed: Waters 2015, Journal: Waters 2015 2-generation family, 4 fetuses (mid-gestation lethality), unaffected heterozygous carrier parents - no United Kingdom (Great Britain) European, white <00y00m00d - - - ? see paper; mid-gestation lethality, ciliopathic malformations, microcephaly, ... 2 4 Johan den Dunnen
00034030 - PubMed: Waters 2015, Journal: Waters 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - MCPH1 MCPH, mild to moderate learning difficulties; occipital head circumference (OFC) at birth: 29.5 cm (<0.4th centile); adult OFC 45.5 cm, (<0.4th centile); other body systems unaffected, overall growth normal 2 1 Johan den Dunnen
00034031 - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - - - - BBS - 1 1 Johan den Dunnen
00034032 - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - - - - BBS - 1 1 Johan den Dunnen
00034033 - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - - - - BBS - 1 1 Johan den Dunnen
00034034 - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - - - - BBS - 1 1 Johan den Dunnen
00054758 26820108-FamA PubMed: Filges 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Norway Caucasion - - - - STROMS Strømme syndrome 2 2 Kaja Selmer
00181108 26820108-FamB PubMed: Filges 2016 2-generation family, 2 affected (F, fetus), unaffected heterozygous carrier parents F ? - - - - - - STROMS Microphthalmia, Xiphoid cleft, Hydronephrosis, duodenal atresia and «apple peel» atresia 2 2 Isabel Filges
00181148 26820108-FamB PubMed: Filges 2016 - M ? - - - - - - STROMS Xiphoid cleft (HP:0100891), Renal hypoplasia (HP:0000089), duodenal atresia (HP:0002247), jejunal atresia (HP:0005235) 2 1 Isabel Filges
00289683 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 34 Mohammed Faruq
00301705 17-1561 PubMed: Maddirevula 2019 - M - - - - - - - ? global developmental delay, growth retardation and severe microcephaly (OFC -5.5 SD below the mean), dysmorphism (small head, low anterior and posterior hair line, triangular face, prominent nose, high arched palate), hyperextensible joints, atrial septal defect (closed), absent left kidney, and cryptorchidism. MRI brain showed reduced overall white matter volume with borderline pachygyria appearance. Molecular karyotyping is normal. 1 1 Johan den Dunnen
00415062 Pat3-1 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - NDD see paper; ..., profound developmental delay, no speech, unable to sit; 7m-epileptic spasms, focal, tonic clonic, tonic seizures; MRI periventricular leukomalacia, metopic synostosis; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; poor fixation 1 3 Johan den Dunnen
00415063 Pat3-2 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 brother M yes - - - - - - NDD see paper; ..., profound developmental delay, no speech, unable to sit; 2m-epileptic spasms, Lennox-Gastaut syndrome; 2y-MRI moderate hyperintensity of periventricular white matter, mild ventriculomegaly; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; no ophthalmologic features 1 1 Johan den Dunnen
00415064 Pat3-3 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 brother M yes - - - - - - NDD see paper; ..., profound developmental delay, no speech, unable to sit; 1d-epileptic spasms, focal, multifocal seizures; 3d-MRI ventriculomegaly, abnormal signal intensity of the white matter, bilateral temporal and left occipital pachygyria; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; no ophthalmologic features 1 1 Johan den Dunnen
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