Global Variome shared LOVD

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Phenotype #0000221950 Individual ID 00288213 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details macrocephaly, high palate, low anterior hairline, anteverted nares, tall chin, thick eyebrow, long eyelashes,strabismus, vertigo, hemangioma, coarse hair, abdominal cyst, abnormality of skin pigmentation, atrial septal defect, ventricular septal defect, aortic root dilatation, raynaud syndrome, sinus tachycardia, patent ductus arteriosus, dilatation of the ascending aorta, cerebral hemorrhage, lymphatic vessel neoplasm, lymphatic cyst, palpitations, laryngotracheomalacia, dyspnea, pectus excavatum, recurrent pneumonia, scoliosis, arthralgia, hip asymmetry, thoracolumbar scoliosis, muscular hypotonia, scrotal swelling, dysuria, mullerian duct remnant, adrenal cyst, urinary retention, global developmental delay, memory impairment, arnold-chiari malformation, optic glioma, gait imbalance, obsolete malformation of the heart and great vessels, constipation, mesenteric cyst, diarrhea,inguinal hernia, low grade glial neoplasm Inheritance Familial Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-02-16 14:03:09 +01:00 (CET) Date last edited N/A

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