TaoMedAI/RareMedData huggingface dataset:
Gene: MYH11
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Anuria (HP:0100519)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Renal cortical hyperechogenicity (HP:0033132)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Barrett esophagus (HP:0100580)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Necrotizing enterocolitis (HP:0033165)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Hypoperistalsis (HP:0100771)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Mucoid extracellular matrix accumulation (HP:0200146)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Mucoid extracellular matrix accumulation (HP:0200146)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Dural ectasia (HP:0100775)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Chest pain (HP:0100749)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Esophagitis (HP:0100633)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Descending thoracic aorta aneurysm (HP:0004959)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Descending thoracic aorta aneurysm (HP:0004959)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH11
Phenotype: Ineffective esophageal peristalsis (HP:0031857)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Microcolon (HP:0004388)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Microcolon (HP:0004388)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Prune belly (HP:0004392)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Thoracic aortic aneurysm (HP:0012727)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Thoracic aortic aneurysm (HP:0012727)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Mydriasis (HP:0011499)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Fetal onset (HP:0011461)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Paroxysmal dyspnea (HP:0012763)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Paroxysmal dyspnea (HP:0012763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH11
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Abnormal iris pigmentation (HP:0008034)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Retrognathia (HP:0000278)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Abdominal aortic aneurysm (HP:0005112)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Death in infancy (HP:0001522)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Omphalocele (HP:0001539)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Bidirectional shunt (HP:0012383)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: MYH11
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH11
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH11
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: Cystic medial necrosis of aorta; Familial aortic dissection; Annuloaortic ectasia (ORPHA:229)
Gene: MYH11
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Posterior cerebral artery stenosis (HP:0012495)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Middle cerebral artery stenosis (HP:0012493)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Anterior cerebral artery stenosis (HP:0012494)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Gene: MYH11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Chronic constipation (HP:0012450)
Associated disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Gene: MYH11
Phenotype: Ileal atresia (HP:0011102)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Gene: MYH11
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Pes planus (HP:0001763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MYH11
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYL1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Apnea (HP:0002104)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Hip contracture (HP:0003273)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Death in infancy (HP:0001522)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Persistent head lag (HP:0032988)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Gene: MYL2
Phenotype: T-wave inversion (HP:0010872)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Gene: MYL2
Phenotype: Poor head control (HP:0002421)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Type 1 fibers relatively smaller than type 2 fibers (HP:0003755)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Motor delay (HP:0001270)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Areflexia (HP:0001284)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MYL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Gene: MYL2
Phenotype: Tremor (HP:0001337)
Associated disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)