Question: What are the symptoms of Reardon Wilson Cavanagh syndrome ?
Answer: What are the signs and symptoms of Reardon Wilson Cavanagh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reardon Wilson Cavanagh syndrome. 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) Cognitive impairment 90% Incoordination 90% Nystagmus 90% Sensorineural hearing impairment 90% Strabismus 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the cerebellum 50% Cerebral cortical atrophy 50% Decreased nerve conduction velocity 50% EMG abnormality 50% Muscular hypotonia 50% Neurological speech impairment 50% Scoliosis 50% Skeletal muscle atrophy 50% Ventriculomegaly 50% Joint hypermobility 7.5% Ataxia - Autosomal recessive inheritance - Intellectual disability - Progressive sensorineural hearing impairment - 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