Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000106398 Individual ID 00133648 Associated disease EDSHMB Phenotype details hypertelorism, pectus excavatum, clubfeet translucent skin, bilateral inguinal hernia and hypermobile joints muscle hypotonia poor muscle mass hydro-ureteronephrosis, hypospadias, food allergies, chronic diarrhea, recurrent bronchitis elongated cusps of the tricuspid valve with regurgitation thinned and elongated cusps of the mitral valve with mitral valve prolapse dilation of the pulmonary arteries with pulmonary hypertension and atrial septum defect with right atrial and ventricular dilatation broader interhemispheric fissures and subarachnoid spaces with echogenic parenchyma died due to severe pulmonary hypertension and heart failure Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Elyssa Cannaerts Database submission license No license selected Created by Elyssa Cannaerts Date created 2017-11-16 11:05:44 +01:00 (CET) Date last edited 2017-11-16 11:54:29 +01:00 (CET)

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