TaoMedAI/RareMedData huggingface dataset:
Gene: ACTC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL SEPTAL DEFECT 5 (OMIM:612794)
Gene: ACTC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ACTC1
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Breathing dysregulation (HP:0005957)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Dyspnea (HP:0002094)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Left anterior fascicular block (HP:0011711)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Atrial flutter (HP:0004749)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Atrial flutter (HP:0004749)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Late onset (HP:0003584)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Chest pain (HP:0100749)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Pedal edema (HP:0010741)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ACTC1
Phenotype: Palpitations (HP:0001962)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Palpitations (HP:0001962)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Subaortic ventricular septal bulge (HP:0031971)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ACTC1
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Cyanosis (HP:0000961)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: ST segment depression (HP:0012250)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Myofiber disarray (HP:0031318)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Cardiomyocyte hypertrophy (HP:0031319)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Interstitial cardiac fibrosis (HP:0031329)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Fatigue (HP:0012378)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Left-to-right shunt (HP:0012382)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ACTC1
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: ATRIAL SEPTAL DEFECT 5 (OMIM:612794)
Gene: ACTC1
Phenotype: Angina pectoris (HP:0001681)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ACTC1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Gene: ACTC1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ACTC1
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTG1
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 20 (OMIM:604717)
Gene: ACTG1
Phenotype: Duplication of thumb phalanx (HP:0009942)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Seizure (HP:0001250)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Seizure (HP:0001250)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Hydroureter (HP:0000072)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 20 (OMIM:604717)
Gene: ACTG1
Phenotype: Pachygyria (HP:0001302)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Pachygyria (HP:0001302)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Wide mouth (HP:0000154)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Wide mouth (HP:0000154)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Short columella (HP:0002000)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Echolalia (HP:0010529)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Aphasia (HP:0002381)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Mutism (HP:0002300)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Retinoschisis (HP:0030502)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Short stature (HP:0004322)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 20 (OMIM:604717)
Gene: ACTG1
Phenotype: Euryblepharon (HP:0012905)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Cerebral cortical hemiatrophy (HP:0100308)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Long nose (HP:0003189)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Osteochondrosis (HP:0040188)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Retrognathia (HP:0000278)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Growth delay (HP:0001510)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Long philtrum (HP:0000343)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Pointed chin (HP:0000307)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Pointed chin (HP:0000307)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 20 (OMIM:604717)
Gene: ACTG1
Phenotype: Microcornea (HP:0000482)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Short neck (HP:0000470)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Short neck (HP:0000470)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Webbed neck (HP:0000465)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Webbed neck (HP:0000465)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Prominent nose (HP:0000448)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Wide nose (HP:0000445)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Telecanthus (HP:0000506)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Ptosis (HP:0000508)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Ptosis (HP:0000508)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)