TaoMedAI/RareMedData huggingface dataset:
Gene: TWNK
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Scapular winging (HP:0003691)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Frequent falls (HP:0002359)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Progressive (HP:0003676)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Memory impairment (HP:0002354)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Resting tremor (HP:0002322)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Clumsiness (HP:0002312)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Athetosis (HP:0002305)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Nystagmus (HP:0000639)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Nystagmus (HP:0000639)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Nystagmus (HP:0000639)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Palpitations (HP:0001962)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Optic atrophy (HP:0000648)
Associated disease: IOSCA; Infantile-onset spinocerebellar ataxia; Ohaha syndrome; Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome (ORPHA:1186)
Gene: TWNK
Phenotype: Ketosis (HP:0001946)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: IOSCA; Infantile-onset spinocerebellar ataxia; Ohaha syndrome; Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome (ORPHA:1186)
Gene: TWNK
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Abnormal thalamic MRI signal intensity (HP:0012696)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Involuntary movements (HP:0004305)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: IOSCA; Infantile-onset spinocerebellar ataxia; Ohaha syndrome; Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome (ORPHA:1186)
Gene: TWNK
Phenotype: Anxiety (HP:0000739)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Depression (HP:0000716)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Depression (HP:0000716)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Depression (HP:0000716)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Emotional lability (HP:0000712)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Dementia (HP:0000726)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Dementia (HP:0000726)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Psychosis (HP:0000709)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Myopathy (HP:0003198)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Myopathy (HP:0003198)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Epilepsia partialis continua (HP:0012847)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Goiter (HP:0000853)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Edema (HP:0000969)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Arrhythmia (HP:0011675)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: High palate (HP:0000218)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Fatigue (HP:0012378)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Fatigue (HP:0012378)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Dysphonia (HP:0001618)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Gene: TWNK
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Hearing impairment (HP:0000365)
Associated disease: IOSCA; Infantile-onset spinocerebellar ataxia; Ohaha syndrome; Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome (ORPHA:1186)
Gene: TWNK
Phenotype: Abnormal cerebellar cortex morphology (HP:0031422)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Bradycardia (HP:0001662)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Progressive hearing impairment (HP:0001730)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Pes cavus (HP:0001761)
Associated disease: PERRAULT SYNDROME 5 (OMIM:616138)
Gene: TWNK
Phenotype: Pes cavus (HP:0001761)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Early young adult onset (HP:0025708)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Cataract (HP:0000518)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Cataract (HP:0000518)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Cataract (HP:0000518)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Weight loss (HP:0001824)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Ptosis (HP:0000508)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Ptosis (HP:0000508)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Ptosis (HP:0000508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Visual impairment (HP:0000505)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Gene: TWNK
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: TWNK
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: TWNK
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: CFAP298
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Respiratory insufficiency due to defective ciliary clearance (HP:0200073)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Infertility (HP:0000789)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)