TaoMedAI/RareMedData huggingface dataset:
Gene: SLC25A24
Phenotype: Long philtrum (HP:0000343)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Broad forehead (HP:0000337)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Broad forehead (HP:0000337)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Micrognathia (HP:0000347)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Triangular face (HP:0000325)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Astigmatism (HP:0000483)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Strabismus (HP:0000486)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Small nail (HP:0001792)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Anonychia (HP:0001798)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Proptosis (HP:0000520)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Hypermetropia (HP:0000540)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DMGDH
Phenotype: Increased muscle fatiguability (HP:0003750)
Associated disease: DMGDH deficiency; DMG dehydrogenase deficiency; Dimethylglycine dehydrogenase deficiency (ORPHA:243343)
Gene: DMGDH
Phenotype: Increased muscle fatiguability (HP:0003750)
Associated disease: DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY (OMIM:605850)
Gene: DMGDH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY (OMIM:605850)
Gene: DMGDH
Phenotype: Fish odor (HP:0410020)
Associated disease: DMGDH deficiency; DMG dehydrogenase deficiency; Dimethylglycine dehydrogenase deficiency (ORPHA:243343)
Gene: DMGDH
Phenotype: Fish odor (HP:0410020)
Associated disease: DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY (OMIM:605850)
Gene: DMGDH
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: DMGDH deficiency; DMG dehydrogenase deficiency; Dimethylglycine dehydrogenase deficiency (ORPHA:243343)
Gene: DMGDH
Phenotype: Elevated circulating N,N-dimethylglycine concentration (HP:0031945)
Associated disease: DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY (OMIM:605850)
Gene: DMGDH
Phenotype: Elevated urinary N,N-dimethylglycine level (HP:0031946)
Associated disease: DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY (OMIM:605850)
Gene: DMGDH
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: DMGDH deficiency; DMG dehydrogenase deficiency; Dimethylglycine dehydrogenase deficiency (ORPHA:243343)
Gene: DMGDH
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY (OMIM:605850)
Gene: DMGDH
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: DMGDH deficiency; DMG dehydrogenase deficiency; Dimethylglycine dehydrogenase deficiency (ORPHA:243343)
Gene: MRM2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Chorea (HP:0002072)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Low plasma citrulline (HP:0003572)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Acidosis (HP:0001941)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Epilepsia partialis continua (HP:0012847)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: MRM2
Phenotype: Hemiballismus (HP:0100248)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Gene: LRP12
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Chaddock reflex (HP:0010875)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Autophagic vacuoles (HP:0003736)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Gait disturbance (HP:0001288)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Areflexia (HP:0001284)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Areflexia (HP:0001284)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Ataxia (HP:0001251)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Dysarthria (HP:0001260)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Bowing of the vocal cords (HP:0008756)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Bowing of the vocal cords (HP:0008756)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Muscle weakness (HP:0001324)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Muscle weakness (HP:0001324)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Tremor (HP:0001337)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Tibialis muscle weakness (HP:0008963)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Myalgia (HP:0003326)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Dysphagia (HP:0002015)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Respiratory distress (HP:0002098)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Muscle spasm (HP:0003394)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Myopathic facies (HP:0002058)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Babinski sign (HP:0003487)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Paraplegia (HP:0010550)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Middle age onset (HP:0003596)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Facial palsy (HP:0010628)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Abnormal morphology of musculature of pharynx (HP:0430015)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Fasciculations (HP:0002380)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Difficulty standing (HP:0003698)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Slowly progressive (HP:0003677)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Young adult onset (HP:0011462)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: EMG: myotonic discharges (HP:0100284)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Respiratory failure (HP:0002878)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: High palate (HP:0000218)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: High palate (HP:0000218)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Aspiration (HP:0002835)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Progressive ptosis (HP:0007838)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Dysphonia (HP:0001618)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Abnormality of facial musculature (HP:0000301)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)