All individuals with variants in gene FLNA

300 entries on 3 pages. Showing entries 1 - 100.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 5 1 Yu Sun
00016330 - PubMed: Della Mina 2015, Journal: Della Mina 2015 - F - - (not applicable) - - 0 - - Healthy/Control - 1 1 Lab Zuffardi
00027224 - PubMed: Fennell 2015, Journal: Fennell 2015 - F no - - - 0 - - OPD2 , see paper; sagittal sutures affected, broad prominent forehead/brow ridge, no micro/retrognathia, no camptodactyly/arthrogryposis, broad/flattened/spatulateterminal digits; hHypertelorism, cleft palate, ... 1 1 Stephen Robertson
00027225 - PubMed: Fennell 2015, Journal: Fennell 2015 - F no - - - 0 - - FMD1 see paper; pansynostosis, broad prominent forehead/brow ridge, micro/retrognathia, camptodactyly/arthrogryposis, no broad/flattened/spatulateterminal digits; long slender digits, flexion deformity elbows, genu valgum, mixed hearing loss 1 1 Stephen Robertson
00027226 - PubMed: Fennell 2015, Journal: Fennell 2015 - M no United Kingdom (Great Britain) - - 0 - - FMD1 see paper; sutures affected sagittal bilambdoid, no broad prominent forehead/brow ridge, micro/retrognathia, camptodactyly/arthrogryposis, broad/flattened/spatulateterminal digits; deep set eyes, down-slanting palpebral fissures, disorganised eyebrows, broad philtrum, small mouth, thin upper lip, tongue tie, poor shoulder girdle muscle development, glenoid hypoplasia, hand syndactyly (2, 3), toe syndactyly (2, 3), developmental delay, urethral stenosis, feeding aversion, developed hip dysplasia, ... 1 1 Stephen Robertson
00027228 - PubMed: Fennell 2015, Journal: Fennell 2015 - M no United Kingdom (Great Britain) - - 0 - - FMD1 see paper; Sagittalmetopic sutures affected, broad prominent forehead/brow ridge, micro/retrognathia, camptodactyly/arthrogryposis, broad/flattened/spatulateterminal digits; mild exorbitism, grade II congenital subglottic stenosis, recurrent otitis media, umbilical hernia, undermodelling lower limb long bones, C2 pars defect, possible absence seizures, ... Mother prominent supraorbital ridge subject to burring procedure (23); 24y-seizures, otherwise good health, normal intellect; broad, tall forehead, mild hypertelorism, exorbitism a long, triangular chin, normal skull vault contour, anteriorposterior flattening chest with marked pectus excavatum, long fingers with camptodactyly digits (2–5), camptodactyly toes (3–5), with lateral deviation both halluces, no other family history of note 1 1 Stephen Robertson
00028662 19377162-Pat? PubMed: Tarpey 2009 - ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00028663 19377163-Pat? PubMed: Tarpey 2009 - ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00028664 19377164-Pat? PubMed: Tarpey 2009 - ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00028665 19377165-Pat? PubMed: Tarpey 2009 - ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 17 Lucy Raymond
00028666 - - 2nd daugther healthy unrelated parents F - Germany - - 0 - - PVNH1 periventricular heterotopia, type 1/frontometaphyseal dysplasia; delayed closure anterior fontanel, craniofacial anomalies, marked genua valga necessitating surgical corrections; 5y-MRI cranial bilateral PVNHs; no seizures, normal motor/mental development; 8y-radiological FMD 3 1 Yu Sun
00028667 19377166-Pat? PubMed: Tarpey 2009 - ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00028668 19377167-Pat? PubMed: Tarpey 2009 - ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00028669 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 son of 09883725.Fam1-IV.3 M - (United States) - - 0 - - PVNH1 death 3d, severe systemic bleeding and organ failure, severe arrest myeloid/erythroid differentiation in bone marrow, lymphoid depletion in thymus 1 1 Yu Sun
00028670 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 mother of 09883725.Fam1-IV.2 and IV.3, unaffected parents F - (United States) - - 0 - - PVNH1 - 1 1 Yu Sun
00028671 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-III.10 F - (United States) - - 0 - - PVNH1 - 1 1 Yu Sun
00028672 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-III.10 F - (United States) - - 0 - - PVNH1 - 1 1 Yu Sun
00028673 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-IV.2 F - (United States) - - 0 - - PVNH1 - 1 1 Yu Sun
00028674 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-IV.3 F - (United States) - - 0 - - PVNH1 - 1 1 Yu Sun
00028675 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-V.2 F - (United States) - - 0 - - PVNH1 - 1 1 Yu Sun
00028676 - PubMed: Fox 1998 mother of 09883725.Fam2-III.1, unaffected parents F - (United States) - - 0 - - PVNH1 - 1 1 Yu Sun
00028677 - PubMed: Fox 1998 daugther of 09883725.Fam2-II.2 F - (United States) - - 0 - - PVNH1 - 1 1 Yu Sun
00028678 - PubMed: Fox 1998 unaffected parents F - (United States) - - 0 - - PVNH1 - 1 1 Yu Sun
00028679 - PubMed: Fox 1998 - F - (United States) - - 0 - - PVNH1 - 1 1 Yu Sun
00028680 - PubMed: Fox 1998 - F - (United States) - - 0 - - PVNH1 - 1 1 Yu Sun
00028681 - - - M - (United States) - - 0 - - PVNH1 severe, non-lethal; shortened digits, syndactyly, clinodactyly; immune compromise, recurrent infections; small corpus callosum, hypoplastic cerebellum 1 1 Yu Sun
00028682 - - - - - - - - 0 - - Healthy/Control - 1 1 Yu Sun
00028683 - PubMed: Masruha 2006 carrier mother mother of II-2,II-3,II-4, no phenotype F - - - - 0 - - Healthy/Control - 1 1 Yu Sun
00028684 - PubMed: Masruha 2006 son of I-2 M - - - - 0 - - PVNH1 Developmental Regression, West Syndrome 1 1 Yu Sun
00028685 - PubMed: Masruha 2006 son of I-2, twin of II-4 M - - - - 0 - - PVNH1 Developmental Regression, West Syndrome 1 1 Yu Sun
00028686 - PubMed: Masruha 2006 son of I-2, twin of II-3 M - - - - 0 - - PVNH1 Developmental Regression, West Syndrome 1 1 Yu Sun
00028687 - - - - - - - - 0 - - IPOX - 1 2 Yu Sun
00028688 - - - - - - - - 0 - - Healthy/Control - 1 1 Yu Sun
00028689 - - - - - - - - 0 - - Healthy/Control - 1 1 Yu Sun
00028690 - PubMed: Moro 2002 mother of 1-III:5, unaffected parents; 3 sons died within 1st week, a brother died as a young adult F - Italy - - 0 - - PVNH1 epilepsy 1 1 Yu Sun
00028691 - PubMed: Moro 2002 mother of 1-IV:6 and 1-IV:9, daughter of 1-II:2; 2 sons died at 5mth/day 5, two spontaneous abortions at 5th month, one is male F - Italy - - 0 - - PVNH1 BPNH, scattered nodules along lateral ventricle wall, slightly vertically oriented posterior hippocampal region, mega cisterna magna, complex partial seizure onset 20y,rare, remission; EEG mild R sided slowing, verbal IQ74/performance IQ97/full-scale IQ81 1 1 Yu Sun
00028692 - PubMed: Moro 2002 elder sister of 1-IV:9, daughter of 1-III:5 F - Italy - - 0 - - PVNH1 BPNH, scattered nodules along lateral ventricle wall, slightly vertically oriented posterior hippocampal region, mega cisterna magna, complex partial seizure onset at 20yrs,rare,remission; EEG shows mild R sided slowing, verbal IQ/performance IQ/full-scale IQ=74/97/81 1 1 Yu Sun
00028693 - PubMed: Moro 2002 proband of family 1, daughter of 1-III:5, younger sister of 1-IV:6 F - Italy - - 0 - - PVNH1 NH, scattered nodules along lateral ventricle wall, slightly vertically oriented posterior hippocampal region, mega cisterna magna, complex partial/secondarily generalized seizure onset at 14yrs,once in 4-5 mth,no remission; EEG shows L frontotemporal slow wave, use antiepileptic drugs:carbamazepine,topiramate;verbal IQ/performance IQ/full-scale IQ=70/81/74 1 1 Yu Sun
00028694 - PubMed: Robertson 2003 - F - - - - 0 - - MNS short stature, bowed bones, abnormal digits 1 1 Yu Sun
00028695 - PubMed: Robertson 2003 - F - - - - 0 - - MNS short stature, bowed bones, abnormal digits 1 1 Yu Sun
00028696 - PubMed: Robertson 2003 - F - - - - 0 - - MNS short stature, bowed bones, abnormal digits 1 1 Yu Sun
00028697 - PubMed: Robertson 2003 - F - - - - 0 - - MNS short stature, bowed bones, abnormal digits 1 1 Yu Sun
00028698 - PubMed: Robertson 2003 - F - - - - 0 - - MNS short stature, bowed bones, abnormal digits 1 1 Yu Sun
00028699 - PubMed: Robertson 2003 - F - - - - 0 - - MNS short stature, bowed bones, abnormal digits 1 1 Yu Sun
00028700 - PubMed: Robertson 2006 has a normal monozygotic twin sister F - - - - 0 - - MNS - 1 2 Yu Sun
00028701 - PubMed: Santos 2010 2-generation family, affected child of mother (Fam2PatI1) M no Brazil - 00y00m00d 0 - - MNS see paper; died immediately after birth (respiratory difficulties); pregnancy oligohydramnios, bladder dilation, scoliosis, club-feet; birth 34w, caesarean section, birth weight 1,000 g (<3rd centile), length 39.5 cm (<3rd centile), OFC 26.0 cm (<3rd centile); ... 1 1 Yu Sun
00028702 - PubMed: Santos 2010 2-generation family, mother and affected child (Fam2PatII1) F no Brazil - >26y 0 - - MNS see paper; karyotype 46XX, hoarse voice, asymmetric face, prominent eyes, full cheeks, micrognathia, narrow shoulders, excised post-axial polydactyly (left hand), lower limb asymmetry, weight 51 kg, height 162.5 cm, OFC 55.5 cm; X-ray showed mastoid sclerosis, paranasal sinus hypoplasia, irregular clavicles with medial flare, ribbon-like ribs, short scapulae, cortical thickening, anterior concavity thoracic vertebrae, iliac flare, narrow pelvis 1 2 Yu Sun
00028703 - PubMed: Robertson 2003, PubMed: Dudding 1967 - M - - - - 0 - - OPD1 short stature, bowed bones, abnormal digits, cleft palate 1 2 Yu Sun
00028704 - PubMed: Robertson 2003, PubMed: Biancalana 1991, PubMed: Le Marec - M - - - - 0 - - OPD1 bowed bones, abnormal digits, cleft palate 1 3 Yu Sun
00028705 - PubMed: Robertson 2006 unaffected parents, 2 healthy siblings, affected brother; mother germline mosaic M - - - - 0 - - OPD1 - 1 1 Yu Sun
00028706 - PubMed: Robertson 2006 unaffected parents, 2 healthy siblings, affected brother; mother germline mosaic M - - - - 0 - - OPD1 - 1 1 Yu Sun
00028707 - PubMed: Robertson 2003, PubMed: Robertson 1997, PubMed: Robertson 2001 - M - - - - 0 - - OPD2 omphalocele, perinatal death, bowed bones, abnormal digits 1 3 Yu Sun
00028708 - PubMed: Robertson 2003, PubMed: Young 1993 - M - - - - 0 - - OPD2 hydrocephalus, omphalocele, perinatal death, bowed bones, abnormal digits, cleft palate 1 2 Yu Sun
00028709 - PubMed: Robertson 2003, PubMed: Young 1993 - M - - - - 0 - - OPD2 hydrocephalus, omphalocele, perinatal death, bowed bones, abnormal digits, cleft palate 1 2 Yu Sun
00028710 - PubMed: Robertson 2003, PubMed: Savarirayan 2000 - M - - - - 0 - - OPD2 omphalocele, perinatal death, bowed bones, abnormal digits, cleft palate 1 2 Yu Sun
00028711 - PubMed: Robertson 2003, PubMed: Morava 2003 - M - - - - 0 - - FMD1 short stature, abnormal digits 1 2 Yu Sun
00028712 - {PMID16835913:Robertson2006}, PubMed: Robertson 2003 brother of 16835913.case4 proband M - - - - 0 - - FMD1 - 1 2 Yu Sun
00028713 - PubMed: Robertson 2006 mother of 16835913.case4 proband F - - - - 0 - - FMD1 - 1 2 Yu Sun
00028714 - {PMID16835913:Robertson2006}, PubMed: Robertson 2003 - M - - - - 0 - - FMD1 - 1 2 Yu Sun
00028715 - PubMed: Robertson 2006 uncle of 16835913.case4 proband M - - - - 0 - - FMD1 - 1 2 Yu Sun
00028716 - PubMed: Robertson 2003, PubMed: Albano 1999 - F - - - - 0 - - MNS short stature, bowed bones, abnormal digits 1 2 Yu Sun
00028717 - PubMed: Robertson 2003 - F - - - - 0 - - MNS short stature, bowed bones, abnormal digits 1 1 Yu Sun
00028718 - PubMed: Robertson 2003 - F - - - - 0 - - MNS short stature, bowed bones, abnormal digits 1 1 Yu Sun
00028719 - PubMed: Robertson 2003 - F - - - - 0 - - MNS short stature, bowed bones, abnormal digits 1 1 Yu Sun
00028720 - PubMed: Robertson 2003, PubMed: Kristiansen 2002 - F - - - - 0 - - MNS short stature, bowed bones, abnormal digits 1 2 Yu Sun
00028721 - - - - - - - - 0 - - Healthy/Control - 1 1 Yu Sun
00028722 - PubMed: Sheen 2001 Has 5 sons, no spontaneous miscarriages history. 2 sons might be affected. F - - - - 0 - - PVNH1 - 1 1 Yu Sun
00028723 - PubMed: Sheen 2001 - F - - - - 0 - - PVNH1 - 1 1 Yu Sun
00028724 - PubMed: Moro 2002 mother of 2-II:5 F - Italy - - 0 - - PVNH1 BPNH, mega cisterna magna, complex partial/secondarily generalized seizure onset at 9yrs,rare,no remission;use antiepileptic drugs:phenobarbital;verbal IQ/performance IQ/full-scale IQ=66/85/74 1 1 Yu Sun
00028725 - PubMed: Moro 2002 mother of 2-III:1, daughter of 2-I:3 F - Italy - - 0 - - PVNH1 BPNH, mega cisterna magna, complex partial/secondarily generalized seizure onset at 30yrs,rare,remission;use antiepileptic drugs:phenobarbital;verbal IQ/performance IQ/full-scale IQ=71/72/70 1 1 Yu Sun
00028726 - PubMed: Moro 2002 proband of the family, daughter of 2-II:5 F - Italy - - 0 - - PVNH1 BPNH, mega cisterna magna, simple partial/partial secondarily generalized seizure onset at 14yrs,rare,remission;use antiepileptic drugs:phenobarbital;verbal IQ/performance IQ/full-scale IQ=100/69/83 1 1 Yu Sun
00028727 - PubMed: Robertson 2003 - F - - - - 0 - - OPD2 short stature, bowed bones, abnormal digits, cleft palate 1 1 Yu Sun
00028728 - PubMed: Robertson 2003 - F - - - - 0 - - MNS short stature, bowed bones, (abnormal digits, cleft palate) 1 1 Yu Sun
00028729 - PubMed: Robertson 2003 - F - - - - 0 - - OPD2 cleft palate 1 1 Yu Sun
00028730 - PubMed: Robertson 2003 - F - - - - 0 - - OPD2 perinatal death, short stature, bowed bones, abnormal digits, cleft palate 1 1 Yu Sun
00028731 - PubMed: Giuliano 2005 mother of proband of 15523633; affected father F - - - - 0 - - FMD1 supraorbital ridging,hypertelorism, broad nasal bridge, small chin, irregular teeth,and long slender fingers with 3ñ5 camptodactyly 1 1 Yu Sun
00028732 - PubMed: Giuliano 2005 - M - - - - 0 - - FMD1 classical FMD 1 1 Yu Sun
00028733 - PubMed: Robertson 2003 - M - - - - 0 - - FMD1 bowed bones, abnormal digits 1 1 Yu Sun
00028734 - {PMID16835913:Robertson2006}, PubMed: Robertson 2003 16835913.case5 proband's mother F - - - - 0 - - FMD1 - 1 2 Yu Sun
00028735 - {PMID16835913:Robertson2006}, PubMed: Robertson 2003 16835913.case5 proband M - - - - 0 - - FMD1 - 1 2 Yu Sun
00028736 - PubMed: Robertson 2006 16835913.case6 proband's brother M - - - - 0 - - FMD1 - 1 1 Yu Sun
00028737 - PubMed: Robertson 2006 16835913.case6 proband M - - - - 0 - - FMD1 - 1 1 Yu Sun
00028738 - PubMed: Robertson 2006 16835913.case7 M - - - - 0 - - FMD1 - 1 1 Yu Sun
00028739 - PubMed: Zenker 2006 unaffected daugther, mother of 16596676.fam2.son F - - - - 0 - - FMD1 - 1 1 Yu Sun
00028740 - PubMed: Zenker 2006 son of 16596676.fam2.mother, unaffected sibling sister M - - - - 0 - - FMD1 - 1 1 Yu Sun
00028741 - PubMed: Stefenova 2005 mother of III-2,III-3 F - - - - 0 - - OPD1 - 1 1 Yu Sun
00028742 - PubMed: Stefenova 2005 mother of IV-2 F - - - - 0 - - OPD1 - 1 1 Yu Sun
00028743 - PubMed: Stefenova 2005 mother of IV-3 F - - - - 0 - - OPD1 - 1 1 Yu Sun
00028744 - PubMed: Stefenova 2005 daughter of III-2 F - - - - 0 - - OPD1 - 1 1 Yu Sun
00028745 - PubMed: Stefenova 2005 daughter of III-3 F - - - - 0 - - OPD1 - 1 1 Yu Sun
00028746 - PubMed: Stefenova 2005 mother of II-3 F - - - - 0 - - OPD1 - 1 1 Yu Sun
00028747 - PubMed: Sheen 2005 - F - - - - 0 - - PVNH4 - 1 1 Yu Sun
00028748 - PubMed: Sheen 2005 - F - - - - 0 - - PVNH4 - 1 1 Yu Sun
00028749 - PubMed: Sheen 2005 son of III-6 F - - - - 0 - - PVNH4 ### 1 1 Yu Sun
00028750 - PubMed: Hidalgo-Bravo 2005 healthy parents and nine healthy siblings F - Mexico - - 0 - - OPD1 - 1 1 Yu Sun
00028751 - PubMed: Gomez-Garre 2006 mother of III-2 F - - - - 0 - - PVNH4 skin hyperelasticity, joint hypermobility, elbow and scapulohumeral dislocation, subarachnoid haemorrhage, hiatus hernia, mitral prolapse 1 1 Yu Sun
00028752 - PubMed: Gomez-Garre 2006 mother of IV-1,daughter of II-2 F - - - - 0 - - PVNH4 skin hyperelasticity, joint hypermobility, shoulder and knee dislocations, high arched palate, lumbar scoliosis, pectus excavatum 1 1 Yu Sun
00028753 - PubMed: Gomez-Garre 2006 daughter of III-2 F - - - - 0 - - PVNH4 skin hyperelasticity, joint hypermobility, knee dislocations, bilateral inguinal hernias, pyloric stenosis, high arched palate, lumbar hyperlordosis 1 1 Yu Sun
00028754 - PubMed: Gerard-Blanluet 2006 mother of 16596669.III6,III7,III8 F - - - - 0 - - PVNH1 - 1 1 Yu Sun
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