Question: What are the symptoms of Ellis Yale Winter syndrome ?
Answer: What are the signs and symptoms of Ellis Yale Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis Yale Winter 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) Abnormal lung lobation 90% Cognitive impairment 90% Intrauterine growth retardation 90% Microcephaly 90% Ventricular septal defect 90% Abnormality of periauricular region 50% Abnormality of the aorta 50% Abnormality of the nipple 50% Blepharophimosis 50% Cleft palate 50% Limitation of joint mobility 50% Muscular hypotonia 50% Renal hypoplasia/aplasia 50% Short distal phalanx of finger 50% Short neck 50% Single transverse palmar crease 50% Talipes 50% Underdeveloped nasal alae 50% Webbed neck 50% Abnormality of the respiratory system - Autosomal recessive inheritance - Hydranencephaly - Preauricular pit - Truncus arteriosus - Unilateral renal agenesis - 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