All individuals with variants in gene FHL1

93 entries on 1 page. Showing entries 1 - 93.
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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) 5 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) 5 1 Yu Sun
00137093 patient2 - unaffected parents M no United States black, Indian 81y - - - ? adult onset, progressive upper and lower limb proximal weakness, scapular winging, arrhythmia, artificial ventilation, CK elevation >10x; muscle biopsy shows myopathic and dystrophic features 1 1 Eugen-Matthias Strehle
00143185 patient1 - 2-generation family, parents and sister not affected F - United States - - - - - ? muscle weakness and wasting in legs, later in arms, severe scapular winging, hyperlordosis, ankle contractures, waddling gait, CK 650 U/L; EMG myopathic pattern; muscle biopsy shows myopathic features and lobulated fibres: no heart and lung involvement 1 1 Eugen-Matthias Strehle
00205451 - PubMed: Tarpey 2009 - M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00205452 - PubMed: Tarpey 2009 - M - - - - - - - MRX;IDX - 1 1 Johan den Dunnen
00205453 - PubMed: Gueneau 2009 6-generation family, 9 affecteds M - - Europe >41y - - - EDMD muscle weakness/wasting UL (scapulo-humeral) / LL (pelvic, distal); rigid spine, stiff neck, contractures elbow/ankle/knees/hips, scoliosis; elevated serum creatine phosphokinase (HP:0003236) 6x 1 9 Johan den Dunnen
00205454 - PubMed: Gueneau 2009 4-generation family, 1 affected M - - Europe >30y - - - EDMD muscle weakness/wasting UL (scapular) / LL (pelvic); rigid spine, stiff neck, contractures elbow/ankle/knees, muscle hypertrophy, dysphonia due to vocal cord palsy, swallowing difficulties; elevated serum creatine phosphokinase (HP:0003236) 2.3-3.7x 1 1 Johan den Dunnen
00205455 - PubMed: Gueneau 2009 3-generation family, 2 affecteds M - - Europe >35y - - - EDMD muscle weakness/wasting UL (scapular, scapula alata) / LL (pelvic, peroneal); rigid spine, stiff neck, contractures elbow/ankle, scoliosis (arthrodesisat 19y); elevated serum creatine phosphokinase (HP:0003236) 4.5x 1 2 Johan den Dunnen
00205456 - PubMed: Gueneau 2009 4-generation family, 3 affecteds M - Japan - >23y - - - EDMD muscle weakness/wasting UL (scapular, humeral) / LL (pelvic, peroneal), rigid spine, stiff neck; contractures ankle/hips, ptosis; ; elevated serum creatine phosphokinase (HP:0003236) 2x 1 3 Johan den Dunnen
00205457 - PubMed: Gueneau 2009 4-generation consanguineous family, 5 affecteds M - Saudi Arabia - >18y - - - EDMD muscle weakness/wasting UL (scapular) / LL (peroneal); rigid spine, stiff neck, contractures elbow/ankle/wrists/knees, scoliosis, dysphonia due to vocal cord palsy; no elevated serum creatine phosphokinase (-HP:0003236) 1 5 Johan den Dunnen
00205458 - PubMed: Gueneau 2009 - M - - Europe >26y - - - EDMD muscle weakness/wasting UL (humeral) / LL (peroneal); contractures elbow/ankle, dysphonia due to vocal cord palsy; elevated serum creatine phosphokinase (HP:0003236) 2.3x 1 1 Johan den Dunnen
00205459 - PubMed: Gueneau 2009 4-generation family, 1 affected M - - Europe >54y - - - EDMD muscle weakness/wasting LL (pelvic); stiff neck, contractures ankle/shoulders, muscle hypertrophy (paravertebral and shoulders); elevated serum creatine phosphokinase (HP:0003236) 2.5x 1 1 Johan den Dunnen
00205460 - PubMed: Wilhelmesen 1996, FamC 4-generation family, 16 affecteds (8 male, 8 female) M - United States Italy - - - - SPM 7/8 wheelchair bound 35.9y (±4.0y), 1 walking with a cane 63y 1 8 Johan den Dunnen
00205461 - PubMed: Wilhelmesen 1996, FamC 4-generation family, 16 affecteds (8 male, 8 female) F - United States Italy - - - - SPM 4/8 wheelchair bound 54.8y (±19y), 4 walking (33-74y) 1 8 Johan den Dunnen
00205462 - PubMed: Windpassinger 2008 7-generation family, 12 affecteds M - Australia - - - - - XMPMA;EDMD6 - 1 4 Johan den Dunnen
00205463 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - - - - XMPMA;EDMD6 EMG myopathic; early athletic habitus; elevated serum creatine phosphokinase (HP:0003236) 620 1 1 Johan den Dunnen
00205464 - PubMed: Schwarzmeier 1971, PubMed: Windpassinger 2008 male family 18179888 M - Australia - - - - - XMPMA;EDMD6 EMG myopathic; early athletic habitus; musle biopsy myopathic; cardiomyopathy with arrhythmia; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 500-900 1 1 Johan den Dunnen
00205465 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - - - - XMPMA;EDMD6 EMG myopathic; early athletic habitus; musle biopsy myopathic; respiratory failure; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 800-1200 1 1 Johan den Dunnen
00205466 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - - - - XMPMA;EDMD6 EMG myopathic; early athletic habitus; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 780 1 1 Johan den Dunnen
00205467 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - - - - XMPMA;EDMD6 EMG myopathic; MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; hypertrophic cardiomyopathy; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 700 1 1 Johan den Dunnen
00205468 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - - - - XMPMA;EDMD6 EMG myopathic; musle biopsy myopathic; ; hypertrophic cardiomyopathy; ; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 550 1 1 Johan den Dunnen
00205469 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - - - - XMPMA;EDMD6 EMG myopathic; MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; normal heart; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 400-1774 1 1 Johan den Dunnen
00205470 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - - - - XMPMA;EDMD6 MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; hypertrophic cardiomyopathy; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 620 1 1 Johan den Dunnen
00205471 - PubMed: Windpassinger 2008 5-generation family, 4 affecteds M - United Kingdom (Great Britain) - - - - - MD EMG normal; early athletic habitus; musle biopsy myopathic; respiratory failure; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 1300 1 4 Johan den Dunnen
00205472 - PubMed: Schessl 2008, OMIM:var0004 - F - United States - - - - - RBM classic early onset severe RBM; 8y tracheostomy, G-tube, no antigravity strength; normal ECHO; 3y-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00205473 - PubMed: Schessl 2008, OMIM:var0005 - F - United States - - - - - RBM classic early onset severe RBM; 6y loss all antigravity strength, death respiratory failure; normal ECHO; 4y6m-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00205474 - PubMed: Schessl 2008, OMIM:var0006 mother of 18274675.3; 3-generation family F - United States - - - - - RBM normal ECHO; 40y-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00205475 - PubMed: Schessl 2008, OMIM:var0006 son of 18274675.m3; 3-generation family M - United States - >21y - - - RBM 11y ventilatory support; 18y dilated cardiomyopathy; reduced fractional shortening; 8y-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00205476 - PubMed: Schessl 2008, OMIM:var0007 mother of 18274675.4; 2-generation family F - United States - - - - - RBM normal ECHO 1 1 Johan den Dunnen
00205477 - PubMed: Schessl 2008, OMIM:var0007 son of 18274675.m4; 2-generation family M - United States - >18y - - - RBM progressive weakness and contractures; normal ECHO; 16y-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00205478 - PubMed: Kiyomoto 1995 - F - Japan - - - - - RBM - 1 1 Johan den Dunnen
00205479 - PubMed: Ohsawa 2007 daugther of 19171836.5 F - Japan - - - - - RBM - 1 1 Johan den Dunnen
00205480 - PubMed: Ohsawa 2007 mother of 19171836.4 F - Japan - - - - - RBM - 1 1 Johan den Dunnen
00205481 - PubMed: Kobayashi 1992 - F - Japan - - - - - RBM - 1 1 Johan den Dunnen
00205482 - PubMed: Kiyomoto 1995 - M - Japan - - - - - RBM - 1 1 Johan den Dunnen
00205483 - PubMed: Tiffin 2013 3-generation family, 3 affected males, 2 unaffected heterozygous carrier females M no New Zealand - - - - - EDMD proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities, genital abnormalities 1 3 Johan den Dunnen
00205484 - - family, 6 affected F no Iran - - - - - MYOP - 1 6 Zohreh Fattahi
00205485 - PubMed: Pen 2013 4-generation family, 4 affected males (3 generations), 3 unaffected heterozygous carrier females M no Denmark - - - - - EDMD facila dysmorphy, pulmonary artery hypoplasia 1 4 Johan den Dunnen
00220081 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220338 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220437 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220496 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220558 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00220699 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220714 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220723 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220814 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221087 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221271 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221319 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221761 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221832 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221891 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221905 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221915 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222040 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222068 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222143 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00289134 P3 PubMed: Evilä 2016 - - - United Kingdom (Great Britain) - - - - - MYOP scapuloperoneal myopathy 1 1 Johan den Dunnen
00295331 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00302992 Pat37 PubMed: Helbig 2016 - - - United States - - - - - seizures Focal epilepsy, temporal lobe epilepsy; age onset adolescent 1 1 Johan den Dunnen
00314291 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00314292 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00314536 patient PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00316225 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 4 Johan den Dunnen
00316226 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316227 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316228 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316229 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316230 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316231 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316232 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316233 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316234 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316235 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00361990 Pat12 PubMed: Saat 2021 - M no Turkey - - - - - RBM Muscle weakness HP:0001324 1 1 Ibrahim Sahin
00417659 - - - - - - - - - - - CMD - 1 1 Beatrice Alessandrini
00430893 Pat1 PubMed: Waddell 2011 - M - Australia - - - - - MD see paper; ..., 7y-died respiratory failure; normal early gross motor milestones; rapidly progressive muscle weakness; muscle biopsy dystrophic; 4y-repeated falls, waddling gait, difficulty sitting upright, positive Gowers’ sign wasting shoulder girdle and quadriceps muscles, shoulder weakness, lumbar lordosis, respiratory muscle weakness; 5y-normal nerve conduction, ECG normal, elevated serum CK level (700 µ/l), biceps muscle EMG myopathic changes 1 1 Johan den Dunnen
00447879 282220 - - M no Germany - - - - - XMPMA;EDMD6 Positional foot deformity, Vocal cord paresis, Scoliosis, Hyperreflexia, Scapular winging, Abnormality of the face, Hip contracture, Knee contracture, Retrognathia, Dystonia 1 1 Andreas Laner
00468898 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00473023 Fam5903Pat131 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - LGMD onset 7y with limbs muscle weakness, upper/lower; Limb-girdle muscle weakness; Decreased DTR; wheelchair bound; Scoliosis; Elevated level of CPK. 1 1 Johan den Dunnen
00473079 Fam15447Pat200 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - MYOP onset from 6.5y with gait abnormality & bilateral foot drop; Neck muscle weakness; Generalized muscle weakness, progressive, upper/lower, proximal & axial, right>left; Lordosis; Muscle cramps; Muscle biopsy suggestive of inflammatory myopathy and some chronic dystrophic process such as FSHD; EMG: generalize myogenic pattern, R/O Polymyositis. 1 1 Johan den Dunnen
00473424 Fam209689Pat728 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - MYOP onset 35y, Difficulty climbing steps; Proximal muscle weakness, upper>lower limbs, Lt>Rt; Calf hypertrophy, Rt>Lt; Gowers sign; Difficulty heel walking; EMG: compatible with asymmetrical myopathic process; Increased level of CPK; Rimmed vacuoles in muscle biopsy 1 1 Johan den Dunnen
00473520 Fam8907879Pat892 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F no Iran - - - - - MD - 1 1 Johan den Dunnen
00473558 Fam9314692Pat943 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M no Iran - - - - - MD Difficulty walking, climbing steps, running & rising from seated position since 17-18 y/o; Neck muscle weakness; Muscle weakness, proximal and distal, legs and arms; Quadriplegic; Wheelchair-bound from 10y; Respiratory difficulty; EMG-NCV: compatible with severe chronic myopathic process; Metabolic test: no indication of Pompe disease 1 1 Johan den Dunnen
00473603 Fam9413171Pat997 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - MD onset in late childhood; Increased serum creatine kinase; Joint contractures; Rigid spine; Limited range of neck, thoracic and lumbar motion 1 1 Johan den Dunnen
00473774 Fam9614914Pat1232 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - CMS Prolonged jaundice; Facial muscle weakness; Long face; Retrognathia; Mild strabismus; Simple, loop ears; Muscle weakness; Mild scoliosis; Malocclusion; Difficulty running & climbing stairs; Muscle biopsy: muscular dystrophy; EMG-NCV: myopathic changes 1 1 Johan den Dunnen
00473964 Fam9911072Pat1496 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - MYOP onset 14y with tip-toe walking; Proximal & distal muscle weakness, legs>arms, mild; Difficulty walking, running & climbing steps; Positive Gowers sign; Mild foot dorsiflexion weakness; Elevated CPK; Thigh & shin MRI suggestive of mild degree myositis; Muscle biopsy suggestive of a dystrophic process; EMG-NCV: chronic myopathic disorder. 1 1 Johan den Dunnen
00476680 Pat78 PubMed: Stehlikova 2017 analysis 167 unrelated neuromuscular disease cases M - Czech Republic - - - - - NMD - 1 1 Johan den Dunnen
00476724 Pat22 PubMed: Kren 2022 patient - - Austria - - - - - LGMD not specified 1 1 Johan den Dunnen
00479731 XLMD120 PubMed: Nallamilli 2023 - M - United States - - - - - NMD not specified 1 1 Johan den Dunnen
00479732 XLMD121 PubMed: Nallamilli 2023 - M - United States - - - - - NMD not specified 1 1 Johan den Dunnen
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