Topic: Microphthalmia syndromic 7
Question: What are the symptoms of Microphthalmia syndromic 7 ?
Answer: What are the signs and symptoms of Microphthalmia syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 7. 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% Aplasia/Hypoplasia of the skin 90% Congenital diaphragmatic hernia 90% Irregular hyperpigmentation 90% Malar flattening 90% Opacification of the corneal stroma 90% Sclerocornea 90% Abnormal facial shape 50% Abnormality of retinal pigmentation 50% Abnormality of the cardiac septa 50% Abnormality of the nose 50% Abnormality of the vitreous humor 50% Arrhythmia 50% Hypertrophic cardiomyopathy 50% Hypopigmented skin patches 50% Short stature 50% Intellectual disability, progressive 24% Abnormality of dental enamel 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the gastrointestinal tract 7.5% Abnormality of the mitral valve 7.5% Abnormality of the nail 7.5% Abnormality of the testis 7.5% Abnormality of the tricuspid valve 7.5% Anterior creases of earlobe 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Chorioretinal abnormality 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Female pseudohermaphroditism 7.5% Glaucoma 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Male pseudohermaphroditism 7.5% Microcephaly 7.5% Neurological speech impairment 7.5% Posterior embryotoxon 7.5% Respiratory insufficiency 7.5% Sacral dimple 7.5% Seizures 7.5% Visual impairment 7.5% Abnormality of metabolism/homeostasis - Absent septum pellucidum - Agenesis of corpus callosum - Anal atresia - Anteriorly placed anus - Asymmetric, linear skin defects - Atria septal defect - Cataract - Chordee - Clitoral hypertrophy - Colpocephaly - Hypoplasia of the uterus - Hypospadias - Iris coloboma - Micropenis - Microphthalmia - Oncocytic cardiomyopathy - Overriding aorta - Ovotestis - Pigmentary retinopathy - Ventricular septal defect - X-linked dominant inheritance - 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)