TaoMedAI/RareMedData huggingface dataset:
Gene: COL6A1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Slender build (HP:0001533)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Round face (HP:0000311)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Reduced maximal expiratory pressure (HP:0012497)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Torticollis (HP:0000473)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Torticollis (HP:0000473)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Torticollis (HP:0000473)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Short neck (HP:0000470)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Protruding ear (HP:0000411)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Esotropia (HP:0000565)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Long fingers (HP:0100807)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Motor delay (HP:0001270)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Slender finger (HP:0001238)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Waddling gait (HP:0002515)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Abnormality of skeletal muscle fiber size (HP:0012084)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Increased laxity of fingers (HP:0006149)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Hypoventilation (HP:0002791)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Neck joint contracture (HP:0005997)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Gowers sign (HP:0003391)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Long toe (HP:0010511)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Infantile onset (HP:0003593)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Infantile onset (HP:0003593)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Adult onset (HP:0003581)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Shoulder contracture (HP:0034665)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Knee contracture (HP:0034671)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Knee contracture (HP:0034671)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Ankle contracture (HP:0034677)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Ankle contracture (HP:0034677)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Esodeviation (HP:0020045)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Scapular winging (HP:0003691)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Frequent falls (HP:0002359)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Progressive (HP:0003676)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Short stature (HP:0004322)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Antenatal onset (HP:0030674)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Curved toe phalanx (HP:0010176)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)