All individuals with variants in gene ACTB

82 entries on 1 page. Showing entries 1 - 82.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 3 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00111411 S_087 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - - - - BRWS1 Severe ID, congenital heart defect, cleft lip and palate, epilepsy, behavioural anomalies, dysplastic ears, pre-auricular pit, downslanting palpebral fissures 1 1 Bernt Popp
00146560 - - - F - (Germany) - - - - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Renal dysplasia (HP:0000110); Bicuspid aortic valve (HP:0001647) 1 1 IMGAG
00204316 patient PubMed: Johnston 2013 - F - United States - - - - - BRWS1 see paper; ... 1 1 Jennifer Johnston
00204317 LP98-085 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS short stature, no microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, no high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00204318 LP90-050 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS short stature, microcephaly postnatal; severe intellectual disability; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00204319 - - - - - - - - - - - DDS1 - 1 1 SIB - Livia Famiglietti
00204320 61456 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BRWS no short stature; seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00204321 58248 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS see paper; ..., no short stature, no microcephaly postnatal; intellectual disability, no hearing loss, seizures; no trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma 1 1 Johan den Dunnen
00239780 - - - M no Haiti - - - - - DD - 1 1 Andreas Janecke
00239781 - - - M no - - - - - - DD - 1 1 Andreas Janecke
00269871 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Agenesis of corpus callosum (HP:0001274) 1 1 Andreas Laner
00285858 59169 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS short stature, microcephaly postnatal; intellectual disability, no hearing loss, seizures; no trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00285859 LR04-173 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BRWS short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00285860 LR09-079 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BRWS short stature, microcephaly postnatal; intellectual disability, no hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00285861 LR06-298 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00285862 11-11287 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BRWS see paper; ..., no short stature, no microcephaly postnatal; intellectual disability, no hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00285863 11-10211 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS no short stature, microcephaly postnatal; severe intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma 1 1 Johan den Dunnen
00285864 Pat1 PubMed: Di Donato 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - BRWS see paper; ... 1 1 Johan den Dunnen
00285865 Pat2 PubMed: Di Donato 2014 - F no - - - - - - BRWS see paper; ... 1 1 Johan den Dunnen
00285866 Pat3 PubMed: Di Donato 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Canada - - - - - BRWS trigonocephaly; high arched eyebrows; ptosis; hypertelorism; broad nasal bridge; broad nasal tip, columella; anteverted nostrils; macrostomia; very high and narrow palate; low-set, long, dysplastic ears; low posterior hairline, webbed neck, frontal pachygyria, congenital pterygia axillae and elbows, duplicated halluces, genital anomalies, bilateral hydronephrosis, duplication right collecting system; moderate intelleectual disability, severely impaired speech; 20s-died of severe respiratory failure 1 1 Johan den Dunnen
00285867 PatB11 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285868 PatB17/Pat1 PubMed: Verloes 2015, PubMed: Ramer 1995 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285869 PatB33 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285870 PatB15/case PubMed: Verloes 2015, PubMed: Bitton 2012 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285871 PatB29 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285872 PatB20 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285873 PatB16 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285874 PatB28 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285875 PatB32/case/case PubMed: Verloes 2015, PubMed: Guion-Almeida 1992, PubMed: Guion-Almeida 2001 - F - Brazil - - - - - BRWS - 1 1 Johan den Dunnen
00285876 PatB12 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285877 PatB26/twin 1 PubMed: Verloes 2015, PubMed: Gearing 2002, PubMed: Procaccio 2006 2-generation family, affected twins, unaffected heterozygous carrier parents - - United States - - - - - BRWS - 1 1 Johan den Dunnen
00285878 PatB27/twin 2 PubMed: Verloes 2015, PubMed: Gearing 2002, PubMed: Procaccio 2006 twin 2 - - United States - - - - - BRWS - 1 1 Johan den Dunnen
00285879 PatB1 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285880 PatB18 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285881 PatB19 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285882 PatB30 PubMed: Eker 2014 - - - Turkey - - - - - BRWS - 1 1 Johan den Dunnen
00285883 PatB21 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285884 PatB14 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00285885 PatB25 PubMed: Verloes 2015 - - - - - - - - - BRWS - 1 1 Johan den Dunnen
00302957 Pat2 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset childhood 1 1 Johan den Dunnen
00306244 - - - F - - - - - - - ? Wide mouth (HP:0000154); Microcephaly (HP:0000252); Broad philtrum (HP:0000289); Wide nasal bridge (HP:0000431); Behavioral abnormality (HP:0000708); Delayed speech and language development (HP:0000750); Global developmental delay (HP:0001263) 1 1 IMGAG
00307699 - - - ? - - - - - - - ? Horseshoe kidney (HP:0000085); Abnormality of cardiovascular system physiology (HP:0011025); Abnormality of prenatal development or birth (HP:0001197); Tetralogy of Fallot (HP:0001636); Abnormality of the cardiovascular system (HP:0001626); Oral cleft (HP:0000202); Abnormality of the kidney (HP:0000077) 1 1 Andreas Laner
00315030 GDB1239 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00315033 GDB1052 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00331315 13DG1169 PubMed: Maddirevula 2018 isolated case F no - Arab - - - - skeletal dysplasia Hip dysplasia, Metopic synostosis, Global developmental delay, Patent ductus arteriosus, Umbi NO 1 1 LOVD
00361585 13DG1169 PubMed: Anazi 2017 simplex case F no Saudi Arabia - - - - - ID syndromic; global developmental delay, dysmorphism 1 1 Johan den Dunnen
00401304 062P - - F no Spain - - - - - BRWS1, DDS1, ID - 1 1 Alejandro Brea-Fernández
00419458 8056 PubMed: Marinakis 2021 - F - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00434659 Pat1 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434660 Pat2 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434661 Pat3 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434662 Pat4 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434663 Pat5 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434664 Pat6 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434665 Pat7 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434666 Pat8 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434667 Pat9 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434668 Pat10 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434669 Pat11 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00462299 051-02- LIC PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - ? 20gw-triventriculomegaly, narrow aqueduct 1 1 Johan den Dunnen
00471285 IS-DYS-410 PubMed: Havrankova 2009, PubMed: Zech 2020 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - DYT isolated dystonia, coexisting non-movement disorder-related neurological symptoms; onset adulthood (after 20y); generalized dystonia; no dystonic cerebral palsy 1 1 Johan den Dunnen
00471630 Pat1 PubMed: Lesieur-Sebellin 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., prenatal cleft lip/palate; no prenatal growth filure; no microcephaly; no motor delay; speech delay, nasal speech; intellectual disability; autism spectrum disorder; dysmorphic features; no seizures; recurring ear infections 1 1 Johan den Dunnen
00471631 Pat2 PubMed: Lesieur-Sebellin 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., intrauterine growth retardation; no prenatal growth filure; no microcephaly; motor delay; speech delay; learning diability; no behavioral disorder; no dysmorphic features; no seizures; MRI brain normal; recurring ear infections, feeding difficulties, sleeping difficulties 1 1 Johan den Dunnen
00471632 Fam1Pat3 PubMed: Lesieur-Sebellin 2025 2-generation family, 2 affected sisters F - - - - - - - NDD see paper; ..., intrauterine growth retardation; prenatal growth filure; relative microcephaly; motor delay; speech delay; mild intellectual disability; attention deficit hyperactivity disorder; dysmorphic features; episodes of recurrent anterior epileptiform discharges in sleep; MRI brain nonspecific lesions may reflect gliosis or dysmyelination; neonatal thrombocytopenia, spastic diplegia, small patent foramen ovale, trivial patent ductus arteriosus, trivial mitral valve regurgitation, bilateral uretral duplication systems, enuresis, myopia, chronic constipation 1 2 Johan den Dunnen
00471633 Fam1Pat4 PubMed: Lesieur-Sebellin 2025 sister F - - - - - - - NDD see paper; ..., intrauterine growth retardation; prenatal growth filure; no microcephaly; speech delay; mild intellectual disability; attention deficit hyperactivity disorder; dysmorphic features; no seizures, episodes of leg spasticity; MRI brain normal; neonatal thrombocytopenia, premature ventricular contractions, horseshoe kidney, enuresis, strabismus, toe walking, constipation 1 1 Johan den Dunnen
00471634 Pat5 PubMed: Lesieur-Sebellin 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no prenatal growth filure; no microcephaly; no motor delay; speech delay, nasal speech; learning diability; autism spectrum disorder; no dysmorphic features; no seizures; MRI brain arachnoid cyst; recurring ear infections, micropenis 1 1 Johan den Dunnen
00471635 Pat6 PubMed: Lesieur-Sebellin 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., prenatal unilateral cleft lip; prenatal growth filure; relative microcephaly; no dysmorphic features; no seizures; mottled skin, scrotal swelling 1 1 Johan den Dunnen
00471636 Pat7 PubMed: Lesieur-Sebellin 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., intrauterine growth retardation; prenatal growth filure (catched-up); relative microcephaly; motor delay; speech delay; moderate intellectual disability; autism spectrum disorder; dysmorphic features; suspicion episodes of leg spasticity; MRI brain normal; scoliosis, astigmatism, hypermetropia, asthm, recurring infections 1 1 Johan den Dunnen
00471637 Fam2Pat8 PubMed: Lesieur-Sebellin 2025 2-generation family, affected son/mother M - - - - - - - NDD see paper; ..., intrauterine growth retardation; prenatal growth filure; no microcephaly; motor delay; speech delay; mild intellectual disability; attention deficit hyperactivity disorder; dysmorphic features; no seizures; MRI brain Vermian hypoplasia (<3rd); hypermetropia 1 2 Johan den Dunnen
00471638 Fam2Pat9 PubMed: Lesieur-Sebellin 2025 paucisymptomatic mother F - - - - - - - NDD see paper; ..., no prenatal growth filure; no microcephaly; no motor delay; no speech delay; no intellectual disability; attention deficit hyperactivity disorder; dysmorphic features; no seizures 1 1 Johan den Dunnen
00471639 Pat10 PubMed: Lesieur-Sebellin 2025 2-generation family, 1 affected fetus (terminated pregnancy), unaffected non-carrier parents F - - - - - - - NDD see paper; ..., ; intrauterine growth retardation, partial agenesis corpus callosum, large dysplastic ears 1 1 Johan den Dunnen
00471640 Pat11 PubMed: Lesieur-Sebellin 2025 patient F - - - - - - - NDD see paper; ..., prenatal growth filure; no microcephaly; motor delay; speech delay, nasal speech; mild-moderate intellectual disability; autism spectrum disorder; dysmorphic features; seizures; MRI brain normal; horseshoe kidney, sacral dimple, hypermetropia, astigmatism, ear infections 1 1 Johan den Dunnen
00471641 Pat12 PubMed: Lesieur-Sebellin 2025 2-generation family, 1 affected, unaffected non-carrier mother M - - - - - - - NDD see paper; ..., no prenatal growth filure; no microcephaly; motor delay; speech delay, nasal speech; mild intellectual disability; attention deficit hyperactivity disorder; dysmorphic features; no seizures; strabismus 1 1 Johan den Dunnen
00471642 Pat13 PubMed: Lesieur-Sebellin 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., intrauterine growth retardation; prenatal growth filure; microcephaly (-2.5 SD); motor delay; speech delay; mild intellectual disability; echolalia, restlesness; dysmorphic features; no seizures; MRI brain normal; strabismus, hypermetropia, ventricular septal defect, patent ductus arteriosus, right club foot, sleeping difficulties 1 1 Johan den Dunnen
00471643 Pat14 PubMed: Lesieur-Sebellin 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., intrauterine growth retardation; no prenatal growth filure; no microcephaly; no motor delay; speech delay; mild-moderate intellectual disability; no behavioral disorder; dysmorphic features; no seizures; Left sylvian stroke revealed by neonatal seizures, hypospadias, right testicular ectopia, aortic valve abnormality 1 1 Johan den Dunnen
00471644 Pat15 PubMed: Lesieur-Sebellin 2025 patient F - - - - - - - NDD see paper; ..., no prenatal growth filure; relative microcephaly; no motor delay; speech delay, nasal speech; intellectual disability; no behavioral disorder; dysmorphic features; no seizures; cleft lip/palate, hypoglycemia in infancy, bilateral sensorineural hearing loss, strabismus 1 1 Johan den Dunnen
00471645 Pat16 PubMed: Lesieur-Sebellin 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., prenatal growth filure; no microcephaly; motor delay; speech delay; learning diability; no behavioral disorder; dysmorphic features; no seizures 1 1 Johan den Dunnen
00471646 Pat17 PubMed: Lesieur-Sebellin 2025 patient M - - - - - - - NDD see paper; ..., no prenatal growth filure; no microcephaly; no motor delay; no speech delay, nasal speech; mild intellectual disability; autoagressivity, addiction behaviours; dysmorphic features; no seizures; MRI brain normal; cleft lip/palate, sleeping difficulties 1 1 Johan den Dunnen
00471647 Pat18 PubMed: Lesieur-Sebellin 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., prenatal growth filure; microcephaly (-2.5 SD); motor delay; speech delay; moderate intellectual disability; no behavioral disorder; no dysmorphic features; no seizures; MRI brain simplified gyral pattern; ventricular septal defect, mitral valve insufficiency, horseshoe kidney, anal atresia 1 1 Johan den Dunnen
00471648 Pat19 PubMed: Lesieur-Sebellin 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no prenatal growth filure; no microcephaly; no motor delay; speech delay, nasal speech; intellectual disability; attention deficit hyperactivity disorder; no dysmorphic features; no seizures; MRI brain ectopic pituitary gland; myopia, mild isolated partial thyroid deficiency 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.