TaoMedAI/RareMedData huggingface dataset:
Gene: TWNK
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Hypertonia (HP:0001276)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Areflexia (HP:0001284)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Areflexia (HP:0001284)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Areflexia (HP:0001284)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Areflexia (HP:0001284)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Lethargy (HP:0001254)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Seizure (HP:0001250)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Seizure (HP:0001250)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Seizure (HP:0001250)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Seizure (HP:0001250)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Ataxia (HP:0001251)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Ataxia (HP:0001251)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Ataxia (HP:0001251)
Associated disease: IOSCA; Infantile-onset spinocerebellar ataxia; Ohaha syndrome; Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome (ORPHA:1186)
Gene: TWNK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Gastroparesis (HP:0002578)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Gastroparesis (HP:0002578)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Dysarthria (HP:0001260)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Dysarthria (HP:0001260)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Dysarthria (HP:0001260)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Atrophy/Degeneration involving the spinal cord (HP:0007344)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Atrophy/Degeneration involving the spinal cord (HP:0007344)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Nocturia (HP:0000017)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Tremor (HP:0001337)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Myoclonus (HP:0001336)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Myoclonus (HP:0001336)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Dysmetria (HP:0001310)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: IOSCA; Infantile-onset spinocerebellar ataxia; Ohaha syndrome; Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome (ORPHA:1186)
Gene: TWNK
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Hypogonadism (HP:0000135)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Constipation (HP:0002019)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Myalgia (HP:0003326)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Myalgia (HP:0003326)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Dysphagia (HP:0002015)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Dysphagia (HP:0002015)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Migraine (HP:0002076)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Migraine (HP:0002076)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Migraine (HP:0002076)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Migraine (HP:0002076)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Babinski sign (HP:0003487)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Babinski sign (HP:0003487)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Sensory ataxic neuropathy (HP:0003434)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Sensory ataxic neuropathy (HP:0003434)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Cerebellar cortical atrophy (HP:0008278)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: IOSCA; Infantile-onset spinocerebellar ataxia; Ohaha syndrome; Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome (ORPHA:1186)
Gene: TWNK
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Adult onset (HP:0003581)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Adult onset (HP:0003581)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Focal white matter lesions (HP:0007042)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Facial palsy (HP:0010628)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)