TaoMedAI/RareMedData huggingface dataset:
Gene: LMNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (OMIM:212112)
Gene: LMNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: LMNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1A (OMIM:115200)
Gene: LMNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Gene: LMNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Wormian bones (HP:0002645)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Wormian bones (HP:0002645)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Osteolysis (HP:0002797)
Associated disease: HUTCHINSON-GILFORD PROGERIA SYNDROME (OMIM:176670)
Gene: LMNA
Phenotype: Osteolysis (HP:0002797)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Familial partial lipodystrophy, Köbberling type; FPLD1; Familial partial lipodystrophy type 1 (ORPHA:79084)
Gene: LMNA
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Cardiogenital syndrome; Malouf syndrome; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Najjar syndrome (ORPHA:2229)
Gene: LMNA
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: AR-CMT2B1; Charcot-Marie-Tooth disease type 2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Gene: LMNA
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Increased intraabdominal fat (HP:0008993)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Increased intraabdominal fat (HP:0008993)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Increased intramuscular fat (HP:0008985)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Pelvic girdle muscle atrophy (HP:0008988)
Associated disease: AR-CMT2B1; Charcot-Marie-Tooth disease type 2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Gene: LMNA
Phenotype: Muscle hypertrophy of the lower extremities (HP:0008968)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: AR-CMT2B1; Charcot-Marie-Tooth disease type 2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Gene: LMNA
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Subcutaneous calcification (HP:0007618)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: AR-CMT2B1; Charcot-Marie-Tooth disease type 2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Gene: LMNA
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Aplasia/Hypoplasia of the eccrine sweat glands (HP:0007592)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Small placenta (HP:0006266)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Large placenta (HP:0006267)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Limited wrist movement (HP:0006248)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Abnormal circulating creatinine concentration (HP:0012100)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Neck joint contracture (HP:0005997)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Myalgia (HP:0003326)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Myalgia (HP:0003326)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Myalgia (HP:0003326)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Decreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Decreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Decreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Midface retrusion (HP:0011800)
Associated disease: HUTCHINSON-GILFORD PROGERIA SYNDROME (OMIM:176670)
Gene: LMNA
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Respiratory distress (HP:0002098)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Emphysema (HP:0002097)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: AR-CMT2B1; Charcot-Marie-Tooth disease type 2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Gene: LMNA
Phenotype: Gowers sign (HP:0003391)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Axonal degeneration/regeneration (HP:0003378)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Steppage gait (HP:0003376)
Associated disease: AR-CMT2B1; Charcot-Marie-Tooth disease type 2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Gene: LMNA
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: AR-CMT2B1; Charcot-Marie-Tooth disease type 2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Gene: LMNA
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Peripheral axonal atrophy (HP:0003384)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: AR-CMT2B1; Charcot-Marie-Tooth disease type 2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Gene: LMNA
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Peroneal muscle weakness (HP:0011727)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (OMIM:212112)
Gene: LMNA
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMNA
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial partial lipodystrophy, Köbberling type; FPLD1; Familial partial lipodystrophy type 1 (ORPHA:79084)
Gene: LMNA
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Left anterior fascicular block (HP:0011711)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: CARDIOMYOPATHY, DILATED, 1A (OMIM:115200)
Gene: LMNA
Phenotype: Second degree atrioventricular block (HP:0011706)
Associated disease: CARDIOMYOPATHY, DILATED, 1A (OMIM:115200)
Gene: LMNA
Phenotype: Abnormal electrophysiology of sinoatrial node origin (HP:0011702)
Associated disease: Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome; Heart-hand syndrome, Slovenian type; Atriodigital dysplasia, Slovenian type (ORPHA:168796)
Gene: LMNA
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Proximal upper limb muscle hypertrophy (HP:0040266)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Gene: LMNA
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: EMG: axonal abnormality (HP:0003482)
Associated disease: AR-CMT2B1; Charcot-Marie-Tooth disease type 2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Gene: LMNA
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Axonal loss (HP:0003447)
Associated disease: AR-CMT2B1; Charcot-Marie-Tooth disease type 2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Gene: LMNA
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMNA
Phenotype: EMG abnormality (HP:0003457)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)