TaoMedAI/RareMedData huggingface dataset:
Gene: FLNB
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Aplasia/Hypoplasia of the fibula (HP:0006492)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Aplasia/Hypoplasia of the ulna (HP:0006495)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Low-set ears (HP:0000369)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Low-set ears (HP:0000369)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Broad forehead (HP:0000337)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Micrognathia (HP:0000347)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Micrognathia (HP:0000347)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Micrognathia (HP:0000347)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Micrognathia (HP:0000347)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Tibial bowing (HP:0002982)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Tibial bowing (HP:0002982)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Micromelia (HP:0002983)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Abnormal fibula morphology (HP:0002991)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: BOOMERANG DYSPLASIA (OMIM:112310)
Gene: FLNB
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Radial bowing (HP:0002986)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Radial bowing (HP:0002986)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Breech presentation (HP:0001623)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Premature birth (HP:0001622)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Corneal opacity (HP:0007957)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Short neck (HP:0000470)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Short neck (HP:0000470)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Short neck (HP:0000470)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Short nail (HP:0001799)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Pes planus (HP:0001763)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: AOIII; Atelosteogenesis type 3; AO3; Atelosteogenesis type III (ORPHA:56305)
Gene: FLNB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: FLNB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: FLNB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: BOOMERANG DYSPLASIA (OMIM:112310)
Gene: FLNB
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: BOOMERANG DYSPLASIA (OMIM:112310)
Gene: FLNB
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Boomerang dysplasia (ORPHA:1263)
Gene: FLNB
Phenotype: Cataract (HP:0000518)
Associated disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Gene: FLNB
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Sandal gap (HP:0001852)
Associated disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Gene: FLNB
Phenotype: Proptosis (HP:0000520)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNB
Phenotype: Proptosis (HP:0000520)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Telecanthus (HP:0000506)
Associated disease: AOI; Atelosteogenesis type I; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia; Atelosteogenesis type 1; AO1 (ORPHA:1190)
Gene: FLNB
Phenotype: Multinucleated giant chondrocytes in epiphyseal cartilage (HP:0030330)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: FLNB
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Larsen syndrome (ORPHA:503)
Gene: FLNB
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNB
Phenotype: Talipes (HP:0001883)
Associated disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Gene: FLNB
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNC
Phenotype: Left ventricular diastolic dysfunction (HP:0025168)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, DISTAL, 4 (OMIM:614065)
Gene: FLNC
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, MYOFIBRILLAR, 5 (OMIM:609524)
Gene: FLNC
Phenotype: Myofibrillar myopathy (HP:0003715)
Associated disease: MYOPATHY, MYOFIBRILLAR, 5 (OMIM:609524)
Gene: FLNC
Phenotype: Stroke (HP:0001297)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 (OMIM:617047)
Gene: FLNC
Phenotype: Stroke (HP:0001297)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: FLNC
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Syncope (HP:0001279)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: FLNC
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYOPATHY, DISTAL, 4 (OMIM:614065)
Gene: FLNC
Phenotype: Inability to walk (HP:0002540)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: Waddling gait (HP:0002515)
Associated disease: MYOPATHY, MYOFIBRILLAR, 5 (OMIM:609524)
Gene: FLNC
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: FLNC
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Finger flexor weakness (HP:0031177)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: Decreased finger mobility (HP:0006135)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, DISTAL, 4 (OMIM:614065)
Gene: FLNC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 (OMIM:617047)
Gene: FLNC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, DISTAL, 4 (OMIM:614065)
Gene: FLNC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, MYOFIBRILLAR, 5 (OMIM:609524)
Gene: FLNC
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: MYOPATHY, DISTAL, 4 (OMIM:614065)
Gene: FLNC
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 (OMIM:617047)
Gene: FLNC
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: FLNC
Phenotype: Abnormal calf musculature morphology (HP:0001430)
Associated disease: MYOPATHY, DISTAL, 4 (OMIM:614065)
Gene: FLNC
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: Myalgia (HP:0003326)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Dysphagia (HP:0002015)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: FLNC
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, MYOFIBRILLAR, 5 (OMIM:609524)
Gene: FLNC
Phenotype: Pulmonary venous hypertension (HP:0030950)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: FLNC
Phenotype: Left anterior fascicular block (HP:0011711)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 (OMIM:617047)
Gene: FLNC
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 (OMIM:617047)
Gene: FLNC
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: FLNC
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: MYOPATHY, DISTAL, 4 (OMIM:614065)
Gene: FLNC
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Distal ABD-filaminopathy; Distal myopathy with posterior leg and anterior hand involvement (ORPHA:63273)
Gene: FLNC
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Thenar muscle weakness (HP:0003427)
Associated disease: MYOPATHY, DISTAL, 4 (OMIM:614065)
Gene: FLNC
Phenotype: Permanent atrial fibrillation (HP:0004754)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 (OMIM:617047)
Gene: FLNC
Phenotype: Back pain (HP:0003418)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 (OMIM:617047)
Gene: FLNC
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: FLNC
Phenotype: Late onset (HP:0003584)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 (OMIM:617047)
Gene: FLNC
Phenotype: Adult onset (HP:0003581)
Associated disease: MYOPATHY, MYOFIBRILLAR, 5 (OMIM:609524)
Gene: FLNC
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: MYOPATHY, MYOFIBRILLAR, 5 (OMIM:609524)
Gene: FLNC
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Filamin C-related filaminopathy; Muscle filaminopathy; MFM5; FLNC-associated myofibrillar myopathy (ORPHA:171445)
Gene: FLNC
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MYOPATHY, MYOFIBRILLAR, 5 (OMIM:609524)
Gene: FLNC
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)