Question: What are the symptoms of Osteopetrosis autosomal recessive 4 ?
Answer: What are the signs and symptoms of Osteopetrosis autosomal recessive 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 4. 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 epiphysis morphology 90% Abnormality of hair texture 90% Abnormality of temperature regulation 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Abnormality of visual evoked potentials 90% Anemia 90% Bone pain 90% Bowing of the long bones 90% Bruising susceptibility 90% Cognitive impairment 90% Craniosynostosis 90% Delayed eruption of teeth 90% Hearing impairment 90% Hepatomegaly 90% Hydrocephalus 90% Increased bone mineral density 90% Lymphadenopathy 90% Macrocephaly 90% Narrow chest 90% Nystagmus 90% Optic atrophy 90% Pallor 90% Premature loss of primary teeth 90% Recurrent fractures 90% Recurrent respiratory infections 90% Reduced bone mineral density 90% Sinusitis 90% Splenomegaly 90% Tremor 90% Visual impairment 90% Skeletal muscle atrophy 50% Abnormality of coagulation 7.5% Abnormality of the pulmonary valve 7.5% Apnea 7.5% Cranial nerve paralysis 7.5% Hypocalcemia 7.5% Hypophosphatemia 7.5% Pulmonary hypertension 7.5% Autosomal recessive inheritance - Facial palsy - Hepatosplenomegaly - Osteopetrosis - Reticulocytosis - 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