TaoMedAI/RareMedData huggingface dataset:
Gene: SGCB
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)
Gene: SGCB
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)
Gene: SGCB
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Gene: SGCB
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)
Gene: SGCB
Phenotype: Scapular winging (HP:0003691)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Gene: SGCB
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Gene: SGCB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Gene: SGCB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)
Gene: SGCB
Phenotype: Myopathy (HP:0003198)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)
Gene: SGCB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)
Gene: SGCB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Gene: SGCB
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)
Gene: SGCB
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Gene: SGCB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)
Gene: SGCD
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Gene: SGCD
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Gene: SGCD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Gene: SGCD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)
Gene: SGCD
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)
Gene: SGCD
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Gene: SGCD
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: LGMD due to delta-sarcoglycan deficiency; Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2F; LGMD2F; LGMD type 2F; Delta-sarcoglycan-related LGMD R6; Delta-sarcoglycanopathy; Delta-sarcoglycan-related limb-girdle muscular dystrophy R6; Limb-girdle muscular dystrophy type 2F (ORPHA:219)
Gene: SGCD
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: LGMD due to delta-sarcoglycan deficiency; Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2F; LGMD2F; LGMD type 2F; Delta-sarcoglycan-related LGMD R6; Delta-sarcoglycanopathy; Delta-sarcoglycan-related limb-girdle muscular dystrophy R6; Limb-girdle muscular dystrophy type 2F (ORPHA:219)
Gene: SGCD
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Gene: SGCD
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: Infantile onset (HP:0003593)
Associated disease: CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)
Gene: SGCD
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Gene: SGCD
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Gene: SGCD
Phenotype: Facial palsy (HP:0010628)
Associated disease: LGMD due to delta-sarcoglycan deficiency; Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2F; LGMD2F; LGMD type 2F; Delta-sarcoglycan-related LGMD R6; Delta-sarcoglycanopathy; Delta-sarcoglycan-related limb-girdle muscular dystrophy R6; Limb-girdle muscular dystrophy type 2F (ORPHA:219)
Gene: SGCD
Phenotype: Shuffling gait (HP:0002362)
Associated disease: LGMD due to delta-sarcoglycan deficiency; Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2F; LGMD2F; LGMD type 2F; Delta-sarcoglycan-related LGMD R6; Delta-sarcoglycanopathy; Delta-sarcoglycan-related limb-girdle muscular dystrophy R6; Limb-girdle muscular dystrophy type 2F (ORPHA:219)
Gene: SGCD
Phenotype: Scapular winging (HP:0003691)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Gene: SGCD
Phenotype: Scapular winging (HP:0003691)
Associated disease: LGMD due to delta-sarcoglycan deficiency; Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2F; LGMD2F; LGMD type 2F; Delta-sarcoglycan-related LGMD R6; Delta-sarcoglycanopathy; Delta-sarcoglycan-related limb-girdle muscular dystrophy R6; Limb-girdle muscular dystrophy type 2F (ORPHA:219)
Gene: SGCD
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Gene: SGCD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)
Gene: SGCD
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: LGMD due to delta-sarcoglycan deficiency; Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2F; LGMD2F; LGMD type 2F; Delta-sarcoglycan-related LGMD R6; Delta-sarcoglycanopathy; Delta-sarcoglycan-related limb-girdle muscular dystrophy R6; Limb-girdle muscular dystrophy type 2F (ORPHA:219)
Gene: SGCD
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)
Gene: SGCD
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Gene: SGCD
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)
Gene: SGCD
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Gene: SGCD
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)
Gene: SGCD
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)
Gene: SGCD
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)
Gene: SGCD
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)
Gene: SGCD
Phenotype: Reduced systolic function (HP:0006673)
Associated disease: CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)
Gene: SGCD
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SGCD
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Gene: SGCG
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: EMG: myotonic runs (HP:0003730)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Waddling gait (HP:0002515)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Scoliosis (HP:0002650)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Macroglossia (HP:0000158)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Pneumonia (HP:0002090)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Gowers sign (HP:0003391)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Scapular winging (HP:0003691)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Frequent falls (HP:0002359)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Difficulty running (HP:0009046)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Abnormal macrophage morphology (HP:0004311)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: EMG: myotonic discharges (HP:0100284)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)