TaoMedAI/RareMedData huggingface dataset:
Gene: ACTA1
Phenotype: Late-onset distal muscle weakness (HP:0003810)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Micropenis (HP:0000054)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Abnormality of skeletal muscle fiber size (HP:0012084)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Wrist drop (HP:0031189)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Rigidity (HP:0002063)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Gowers sign (HP:0003391)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Gowers sign (HP:0003391)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Intercostal muscle weakness (HP:0004878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Scapular winging (HP:0003691)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Scapular winging (HP:0003691)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Frequent falls (HP:0002359)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Headache (HP:0002315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Tube feeding (HP:0033454)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Clumsiness (HP:0002312)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Dental crowding (HP:0000678)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Hamstring contractures (HP:0003089)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Second trimester onset (HP:0034198)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Weakness of muscles of respiration (HP:0004347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Young adult onset (HP:0011462)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Abnormality of the diaphragm (HP:0000775)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Myopathy (HP:0003198)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Myopathy (HP:0003198)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Myopathy (HP:0003198)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Thin ribs (HP:0000883)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Handgrip myotonia (HP:0012899)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Typical nemaline myopathy (ORPHA:171436)