{"Name":"Mitochondrial DNA depletion syndrome 11","DiseaseID__c":"GARD:0017517","id":17517,"encodedName":"mitochondrial-dna-depletion-syndrome-11","IsDeleted":false,"Disease_Name_Full__c":"Mitochondrial DNA depletion syndrome 11","Xref_IDs__c":"C3554462; DOID:0080129; MEDGEN:767376; MONDO:0014039; OMIM:615084; ORPHA:352447","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014039","Disease_Description__c":"Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.","GARD_Name__c":"Mitochondrial DNA depletion syndrome 11","GARD_Synonym__c":"mgme1 mitochondrial dna depletion syndrome; mitochondrial dna depletion syndrome caused by mutation in mgme1; mitochondrial dna depletion syndrome type 11; mitochondrial dna maintenance syndrome due to mgme1 deficiency; mtdna maintenance syndrome due to mgme1 deficiency; mtdps11; peo-myopathy-emaciation syndrome; progressive external ophthalmoplegia-myopathy-emaciation syndrome","Curated_Disease_Description_Source__c":"MONDO:0014039","Curated_Disease_Description__c":"Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:352447","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014039","ORPHANET_ID__c":"ORPHA:352447","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de oftalmoplejía externa progresiva-miopatía-emaciación","Spanish_Description_Source__c":"ORPHA:352447","Spanish_Description__c":"El síndrome de oftalmoplejía externa progresiva - miopatía - emaciación es un trastorno de la fosfoforilación oxidativa mitocondrial poco frecuente, debido a anomalías en el ADN nuclear caracterizadas por oftalmoplejía externa progresiva sin diplopía, atrofia cerebelosa, debilidad del músculo esquelético proximal con atrofia muscular generalizada, emaciación profunda, insuficiencia respiratoria, deformidad espinal y debilidad muscular facial (que se manifiesta con ptosis, disfonía, disfagia y voz nasal). También se han notificado discapacidad intelectual, síntomas gastrointestinales (p. ej., náuseas, plenitud abdominal y pérdida de apetito), cardiomiopatía dilatada y cólico renal.","Spanish_Disease_Name__c":"síndrome de oftalmoplejía externa progresiva-miopatía-emaciación","Spanish_GARD_Synonym__c":"peo-miopatía-emaciación; síndrome de mantenimiento del adn mitocondrial por deficiencia de mgme1; síndrome de mantenimiento del adnmt por deficiencia de mgme1","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0014039","GARD_Synonym__c":"mgme1 mitochondrial dna depletion syndrome; mitochondrial dna depletion syndrome caused by mutation in mgme1; mitochondrial dna depletion syndrome type 11; mitochondrial dna maintenance syndrome due to mgme1 deficiency; mtdna maintenance syndrome due to mgme1 deficiency; mtdps11; peo-myopathy-emaciation syndrome; progressive external ophthalmoplegia-myopathy-emaciation syndrome","Name":"Mitochondrial DNA depletion syndrome 11","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:352447"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK487393","Source__c":"Gene Review","Xref__c":"NBK487393"},{"URL__c":"https://www.omim.org/entry/615084","Source__c":"C3554462; MONDO:0014039; ORPHA:352447","Xref__c":"OMIM:615084"},{"URL__c":"https://www.orpha.net/en/disease/detail/352447","Source__c":"C3554462; MONDO:0014039","Xref__c":"ORPHA:352447"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554462","Source__c":"C3554462","Xref__c":"C3554462"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=767376","Source__c":"C3554462","Xref__c":"MEDGEN:767376"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080129","Source__c":"MONDO:0014039","Xref__c":"DOID:0080129"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014039","Source__c":"GARD:0017517","Xref__c":"MONDO:0014039"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MGME1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040013","HPO_Name__c":"Decreased mitochondrial number","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002747","HPO_Synonym__c":"Decreased lung function due to weak breathing muscles; Decreased respiratory function due to muscle weakness; Respiratory distress due to muscle weakness; Respiratory failure due to muscle weakness; Respiratory muscle weakness","HPO_Name__c":"Respiratory insufficiency due to muscle weakness","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001611","HPO_Synonym__c":"Hypernasal voice; Nasal speech; Nasal voice","HPO_Name__c":"Hypernasal speech","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to fatigue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003388","HPO_Name__c":"Easy fatigability","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000815","HPO_Synonym__c":"Hypergonadotrophic hypogonadism; Primary hypogonadism","HPO_Name__c":"Hypergonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003700","HPO_Synonym__c":"Diffuse amyotrophy; Diffuse muscle atrophy; Diffuse muscle wasting; Diffuse skeletal muscle wasting; Generalized muscle atrophy; Generalized muscle degeneration; Muscle atrophy, diffuse; Muscle atrophy, generalized; Muscular atrophy, generalized","HPO_Name__c":"Generalized amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003200","HPO_Synonym__c":"Mitochondrial proliferation in muscle tissue; Ragged red muscle fibers; Ragged-red fibers","HPO_Name__c":"Ragged-red muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030319","HPO_Synonym__c":"Decreased facial muscle strength; Decreased strength of facial muscles; Face weakness; Facial muscle weakness; Facial weakness; Myasthenia of facial muscles; Reduced facial muscle strength; Weakness of face; Weakness of facial musculature","HPO_Name__c":"Weakness of facial musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008443","HPO_Synonym__c":"Charcot spinal arthropathy; Spinal deformities; Spinal neuroarthropathy","HPO_Name__c":"Neuropathic spinal arthropathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced desire to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004396","HPO_Synonym__c":"Decreased appetite; Loss of appetite; Poor appetite","HPO_Name__c":"Poor appetite","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001618","HPO_Synonym__c":"Inability to produce voice sounds; Voice change","HPO_Name__c":"Dysphonia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000590","HPO_Synonym__c":"External ophthalmoplegia, progressive","HPO_Name__c":"Progressive external ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003306","HPO_Synonym__c":"Reduced spine movement; Rigid spine","HPO_Name__c":"Spinal rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["mgme1 mitochondrial dna depletion syndrome"," mitochondrial dna depletion syndrome caused by mutation in mgme1"," mitochondrial dna depletion syndrome type 11"," mitochondrial dna maintenance syndrome due to mgme1 deficiency"," mtdna maintenance syndrome due to mgme1 deficiency"," mtdps11"," peo-myopathy-emaciation syndrome"," progressive external ophthalmoplegia-myopathy-emaciation syndrome"]}