Question: What are the symptoms of Mucolipidosis III alpha/beta ?
Answer: What are the signs and symptoms of Mucolipidosis III alpha/beta? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucolipidosis III alpha/beta. 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 form of the vertebral bodies 90% Abnormality of the hip bone 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Hearing abnormality 90% Limitation of joint mobility 90% Opacification of the corneal stroma 90% Prominent occiput 90% Short stature 90% Visual impairment 90% Acne 50% Coarse facial features 50% Hernia of the abdominal wall 50% Hyperlordosis 50% Abnormality of the aortic valve 7.5% Cleft palate 7.5% Reduced bone mineral density 7.5% Aortic regurgitation - Autosomal recessive inheritance - Broad ribs - Carpal bone hypoplasia - Craniosynostosis - Deficiency of N-acetylglucosamine-1-phosphotransferase - Dysostosis multiplex - Hyperopic astigmatism - Increased serum beta-hexosaminidase - Increased serum iduronate sulfatase activity - Intellectual disability - Irregular carpal bones - J-shaped sella turcica - Mandibular prognathia - Retinal degeneration - Scoliosis - Shallow acetabular fossae - Short long bone - Short ribs - Soft tissue swelling of interphalangeal joints - Specific learning disability - Split hand - Thickened skin - 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