Question: What are the symptoms of Microphthalmia syndromic 9 ?
Answer: What are the signs and symptoms of Microphthalmia syndromic 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 9. 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) Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Abnormal lung lobation 50% Aplasia/Hypoplasia of the lungs 50% Congenital diaphragmatic hernia 50% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the larynx 7.5% Abnormality of the spleen 7.5% Annular pancreas 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Cryptorchidism 7.5% Duodenal stenosis 7.5% Intrauterine growth retardation 7.5% Low-set, posteriorly rotated ears 7.5% Muscular hypotonia 7.5% Renal hypoplasia/aplasia 7.5% Vesicoureteral reflux 7.5% Low-set ears 5% Truncus arteriosus 5% Agenesis of pulmonary vessels - Anophthalmia - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Bilateral lung agenesis - Bilateral microphthalmos - Blepharophimosis - Coarctation of aorta - Diaphragmatic eventration - Horseshoe kidney - Hydronephrosis - Hypoplasia of the uterus - Hypoplastic left atrium - Hypoplastic spleen - Inguinal hernia - Intellectual disability, profound - Patent ductus arteriosus - Pelvic kidney - Pulmonary artery atresia - Pulmonary hypoplasia - Pulmonic stenosis - Renal hypoplasia - Renal malrotation - Respiratory insufficiency - Right aortic arch with mirror image branching - Short stature - Single ventricle - Tetralogy of Fallot - Ventricular septal defect - Wide nasal bridge - 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