TaoMedAI/RareMedData huggingface dataset:
Gene: GAS2L2
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 41 (OMIM:618449)
Gene: GAS2L2
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: GAS2L2
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: GAS2L2
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: GAS2L2
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: GAS2L2
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: GAS2L2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SLC17A8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 25 (OMIM:605583)
Gene: SLC17A8
Phenotype: Adult onset (HP:0003581)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 25 (OMIM:605583)
Gene: SLC17A8
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 25 (OMIM:605583)
Gene: SLC17A8
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 25 (OMIM:605583)
Gene: RNASEH1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Demyelinating motor neuropathy (HP:0007220)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Ataxia (HP:0001251)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Dysarthria (HP:0001260)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Deficit in phonologic short-term memory (HP:0002549)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Dysmetria (HP:0001310)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Myalgia (HP:0003326)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Myalgia (HP:0003326)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Dysphagia (HP:0002015)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Migraine (HP:0002076)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Babinski sign (HP:0003487)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Clonus (HP:0002169)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Postural instability (HP:0002172)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Middle age onset (HP:0003596)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Progressive (HP:0003676)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Abnormality of the spinocerebellar tracts (HP:0003133)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: High palate (HP:0000218)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Dysphonia (HP:0001618)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Abnormal atrioventricular conduction (HP:0005150)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Ptosis (HP:0000508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RNASEH1
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Gene: RNASEH1
Phenotype: Esotropia (HP:0000565)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: STAC3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Motor delay (HP:0001270)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Dysarthria (HP:0001260)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Inability to walk (HP:0002540)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Abnormality of skeletal muscle fiber size (HP:0012084)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Cleft palate (HP:0000175)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Submucous cleft soft palate (HP:0011819)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Myopathic facies (HP:0002058)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Abnormal curvature of the vertebral column (HP:0010674)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Progressive congenital scoliosis (HP:0008458)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Short stature (HP:0004322)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)