TaoMedAI/RareMedData huggingface dataset:
Gene: LMAN1
Phenotype: Hematuria (HP:0000790)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Reduced factor VIII activity (HP:0003125)
Associated disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 (OMIM:227300)
Gene: LMAN1
Phenotype: Reduced factor VIII activity (HP:0003125)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Reduced coagulation factor V activity (HP:0003225)
Associated disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 (OMIM:227300)
Gene: LMAN1
Phenotype: Reduced coagulation factor V activity (HP:0003225)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Joint hemorrhage (HP:0005261)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Prolonged bleeding following circumcision (HP:0030137)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Epistaxis (HP:0000421)
Associated disease: F5F8D; FV and FVIII combined deficiency; Combined deficiency of factor V and factor VIII (ORPHA:35909)
Gene: LMAN1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 (OMIM:227300)
Gene: LMNA
Phenotype: Myotonia (HP:0002486)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Myotonia (HP:0002486)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Myotonia (HP:0002486)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome; Heart-hand syndrome, Slovenian type; Atriodigital dysplasia, Slovenian type (ORPHA:168796)
Gene: LMNA
Phenotype: Brachydactyly (HP:0001156)
Associated disease: HEART-HAND SYNDROME, SLOVENIAN TYPE (OMIM:610140)
Gene: LMNA
Phenotype: Fetal distress (HP:0025116)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Syndactyly (HP:0001159)
Associated disease: HEART-HAND SYNDROME, SLOVENIAN TYPE (OMIM:610140)
Gene: LMNA
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Distal muscle weakness (HP:0002460)
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: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Pili torti (HP:0003777)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Pubertal developmental failure in females (HP:0008647)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMNA
Phenotype: Left ventricular diastolic dysfunction (HP:0025168)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Short umbilical cord (HP:0001196)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Aplasia/Hypoplasia involving the nose (HP:0009924)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Prominent ear helix (HP:0009904)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Low-frequency sensorineural hearing impairment (HP:0008573)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Decreased number of small peripheral myelinated nerve fibers (HP:0007249)
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: Clusters of axonal regeneration (HP:0007233)
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: Short distal phalanx of finger (HP:0009882)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Microtia (HP:0008551)
Associated disease: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (OMIM:212112)
Gene: LMNA
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Poor head control (HP:0002421)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Poor head control (HP:0002421)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Calcinosis (HP:0003761)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
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: Exercise-induced myalgia (HP:0003738)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Proximal muscle weakness (HP:0003701)
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 (HP:0003701)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Gene: LMNA
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Stroke (HP:0001297)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Stiff neck (HP:0025258)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Gene: LMNA
Phenotype: Areflexia (HP:0001284)
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: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Neoplasm of the small intestine (HP:0100833)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Syncope (HP:0001279)
Associated disease: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORPHA:300751)
Gene: LMNA
Phenotype: Syncope (HP:0001279)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Hypotonia (HP:0001252)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Hypotonia (HP:0001252)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (OMIM:212112)
Gene: LMNA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Abnormality of the vasculature (HP:0002597)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Labial pseudohypertrophy (HP:0008739)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Prominent superficial blood vessels (HP:0007394)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Prominent superficial blood vessels (HP:0007394)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Inability to walk (HP:0002540)
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: Waddling gait (HP:0002515)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Waddling gait (HP:0002515)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Waddling gait (HP:0002515)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Gene: LMNA
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Limited hip movement (HP:0008800)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Familial partial lipodystrophy, Köbberling type; FPLD1; Familial partial lipodystrophy type 1 (ORPHA:79084)
Gene: LMNA
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Abnormal cellular phenotype (HP:0025354)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Flexion contracture (HP:0001371)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Joint stiffness (HP:0001387)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Hypospadias (HP:0000047)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Hypoplastic facial bones (HP:0002692)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Adipose tissue loss (HP:0008887)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Patchy hypo- and hyperpigmentation (HP:0007509)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Abnormality of skeletal muscle fiber size (HP:0012084)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Increased circulating NT-proBNP concentration (HP:0031185)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: HUTCHINSON-GILFORD PROGERIA SYNDROME (OMIM:176670)
Gene: LMNA
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Gene: LMNA
Phenotype: Coxa valga (HP:0002673)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Coxa valga (HP:0002673)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Gene: LMNA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HUTCHINSON-GILFORD PROGERIA SYNDROME (OMIM:176670)
Gene: LMNA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HUTCHINSON-GILFORD PROGERIA SYNDROME (OMIM:176670)
Gene: LMNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEART-HAND SYNDROME, SLOVENIAN TYPE (OMIM:610140)
Gene: LMNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)