Question: What are the symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA ?
Answer: What are the signs and symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the renal tubule 90% Constipation 90% Irregular hyperpigmentation 90% Short stature 90% Cerebral cortical atrophy 50% Hearing impairment 50% Incoordination 50% Muscular hypotonia 50% Ptosis 50% Reduced bone mineral density 50% Type I diabetes mellitus 50% Abnormal electroretinogram 7.5% Visual impairment 7.5% Ataxia - Blindness - Blotching pigmentation of the skin - Dehydration - Developmental regression - Diarrhea - Failure to thrive - Hepatomegaly - Mitochondrial inheritance - Mottled pigmentation of photoexposed areas - Myoclonus - Ophthalmoparesis - Osteoporosis - Pigmentary retinal deposits - Polyuria - Proximal tubulopathy - Rickets - Undetectable electroretinogram - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD