TaoMedAI/RareMedData huggingface dataset:
Gene: COL12A1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: High palate (HP:0000218)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
Phenotype: Torticollis (HP:0000473)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Short neck (HP:0000470)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
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: COL12A1
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: COL12A1
Phenotype: Pes planus (HP:0001763)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Esotropia (HP:0000565)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Myopia (HP:0000545)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL13A1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Poor head control (HP:0002421)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Poor head control (HP:0002421)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Motor delay (HP:0001270)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Areflexia (HP:0001284)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Seizure (HP:0001250)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Ataxia (HP:0001251)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Triceps weakness (HP:0031108)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Abnormality of the musculature of the upper limbs (HP:0001446)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Staring gaze (HP:0025401)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Poor suck (HP:0002033)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Frontalis muscle weakness (HP:0004661)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Decreased miniature endplate potentials (HP:0003402)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Episodic respiratory distress (HP:0004885)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Drowsiness (HP:0002329)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Distal joint hypermobility (HP:0020152)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Diplopia (HP:0000651)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Diplopia (HP:0000651)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Narrow jaw (HP:0012801)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Choking episodes (HP:0030842)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Stridor (HP:0010307)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: EMG: impaired neuromuscular transmission (HP:0100285)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Cyanosis (HP:0000961)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Cyanosis (HP:0000961)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Retrognathia (HP:0000278)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Long face (HP:0000276)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: High palate (HP:0000218)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: High palate (HP:0000218)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: High palate (HP:0000218)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Increased jitter at single fiber EMG (HP:0030205)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Weak cry (HP:0001612)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Fatigable weakness of neck muscles (HP:0030199)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Gene: COL13A1
Phenotype: Ptosis (HP:0000508)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Ptosis (HP:0000508)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL13A1
Phenotype: Esotropia (HP:0000565)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: COL13A1
Phenotype: Hip flexor weakness (HP:0012515)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: COL17A1
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Epithelial recurrent erosion dystrophy; Recurrent hereditary corneal erosions; Dystrophia Smolandiensis; ERED; Dystrophia Helsinglandica (ORPHA:293381)
Gene: COL17A1
Phenotype: Epiphora (HP:0009926)
Associated disease: Epithelial recurrent erosion dystrophy; Recurrent hereditary corneal erosions; Dystrophia Smolandiensis; ERED; Dystrophia Helsinglandica (ORPHA:293381)
Gene: COL17A1
Phenotype: Epiphora (HP:0009926)
Associated disease: EPITHELIAL RECURRENT EROSION DYSTROPHY (OMIM:122400)