Question: What are the symptoms of Deafness enamel hypoplasia nail defects ?
Answer: What are the signs and symptoms of Deafness enamel hypoplasia nail defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness enamel hypoplasia nail defects. 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 hair quantity 90% Abnormality of dental enamel 90% Abnormality of nail color 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Diabetes mellitus 90% Pili torti 90% Sensorineural hearing impairment 90% Taurodontia 90% Arrhythmia 50% Large hands 50% Primary amenorrhea 50% Round face 50% Short stature 50% Acanthosis nigricans 7.5% Camptodactyly of finger 7.5% Cerebral calcification 7.5% Delayed skeletal maturation 7.5% High anterior hairline 7.5% Ichthyosis 7.5% Muscle weakness 7.5% Peripheral neuropathy 7.5% Macular dystrophy 5% Amelogenesis imperfecta - Autosomal recessive inheritance - Hypoplasia of dental enamel - Leukonychia - 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