All individuals with variants in gene LMNB1

18 entries on 1 page. Showing entries 1 - 18.
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00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00228220 - - 2-generation family, 3 affecteds - no United States - - - - - ADLD - 1 30 LOVD
00228221 - - 4-generation family, 16 affecteds - no United States Irish - - - - ADLD - 1 16 LOVD
00228222 - - 5-generation family, 30 affecteds - no United States Irish - - - - ADLD - 1 30 LOVD
00228223 - - 3-generation family, 7 affecteds and 1 asymptomatic carrier (young) - no United States - - - - - ADLD - 1 7 LOVD
00228224 - Giorgio et al., 2013 Human Mutation - - no - - - - - - ADLD adult onset demyelination 1 1 Quasar Padiath
00228225 - - - - no - - - - - - ADLD adult onset demyelination 1 1 Quasar Padiath
00293710 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 169 Mohammed Faruq
00305004 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00311164 Pat1 PubMed: Cristofoli 2020 - M no Belgium white - - - - ? see paper; ..., birth length 46 cm, weight 2610 g, OFC 25 cm; length 122 cm (-2.7 SD), OFC 42 cm (-6.8 SD); no facial dysmorphism; moderate to severe developmental delay/intellectual disability; MRI small brain, normal structures; no neurological abnormalities; no visual impairment; no skeletal abnormalities; feeding difficulties 1 1 Johan den Dunnen
00311165 Pat2 PubMed: Cristofoli 2020 family, affected mother/daughter; daughter F no Belgium white - - - - ? see paper; ..., birth length 51 cm, weight 3460 g, OFC 32 cm; length 119.5 cm (+0.7 SD), OFC 45.1 cm (-3.6 SD); pronounced and long philtrum, short nose, trigonocephaly; mild developmental delay/intellectual disability; MRI small brain, normal structures; no neurological abnormalities; no visual impairment; no skeletal abnormalities; no gastro-intestinal abnormalities; OFC mother 50.5 cm (−2.5 SD), low educational level, long philtrum 1 2 Johan den Dunnen
00311166 Pat3 PubMed: Cristofoli 2020 - F no Italy white - - - - ? see paper; ..., birth length 42 cm, weight 2190 g, OFC 28 cm (35w); length 92 cm (-4.8 SD), OFC 36.5 cm (-12 SD); prominent nasal root, protruding tongue; severe developmental delay/intellectual disability; MRI brain pachygyria, thin corpus callosum; spasticity limbs, inability to walk; no visual impairment; scoliosis; feeding difficulties; patent foramen ovale 1 1 Johan den Dunnen
00311167 Pat4 PubMed: Cristofoli 2020 - F - United States white - - - - ? see paper; ..., birth length 48.9 cm, weight 2890 g, OFC 29 cm; length 81 cm (-2.6 SD), OFC 36.1 cm (-12 SD); fullness glabellar region, bitemporal narrowing, prominent eyes and eyelashes, upslanting palpebral fissures; significant developmental delay; MRI brain simplified gyral pattern, dysgenesis of corpus callosum; seizures (controlled); suspected cortical visual impairment; no skeletal abnormalities; feeding difficulties, G-tube; recurrent pneumonia 1 1 Johan den Dunnen
00311168 Pat5 PubMed: Cristofoli 2020 family, 3 affected (F, 2M), father mosaic F - Spain Arab - - - - ? see paper; ..., length 77 cm (-2.4 SD), OFC 35 cm (-4.4 SD); no facial dysmorphism; significant developmental delay; seizures (controlled), hypotonia; mild scoliosis; no gastro-intestinal abnormalities 1 3 Johan den Dunnen
00311169 Pat6 PubMed: Cristofoli 2020 brother M - Spain Arab - - - - ? see paper; ..., birth weight 2500 g, OFC 28.5 cm; length 122 cm (-4 SD), OFC 40 cm (-10 SD); gingival hypertrophy; severe developmental delay/intellectual disability; MRI brain simplified gyral pattern, dysgenesis of the corpus callosum; seizures (controlled), severe axial hypotonia, spastic tetraparesis, no language or communication; cortical visual impairment; severe scoliosis; feeding difficulties, G-tube; recurrent pneumonia 1 1 Johan den Dunnen
00311170 Pat7 PubMed: Cristofoli 2020 brother M - Spain Arab - - - - ? see paper; ..., birth length 48 cm, weight 2700 g, OFC 27.5 cm; length 125.34 cm (-2.5 SD), OFC 39 cm (-10 SD); gingival hypertrophy; severe developmental delay/intellectual disability; MRI brain simplified gyral pattern; seizures (controlled), severe axial hypotonia, spastic tetraparesis, no language or communication; cortical visual impairment; severe scoliosis; feeding difficulties, G-tube; recurrent pneumonia 1 1 Johan den Dunnen
00414354 WHP21 PubMed: Sun 2018 - M - China - - - - - ? - 1 1 LOVD
00457321 patient - - M - China - - - - - microcephaly - 1 1 Meiling Liu
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