Global Variome shared LOVD

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

Phenotype #0000279487 Individual ID 00385432 Associated disease CHTD Phenotype details tricuspid and pulmonic valve dysplasia, mitral valve prolapse, premature ventricular contractions; mild developmental dealy; no microcephaly; intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; normal oral cavity; astigmatism; frontal bossing, bitemporal narrowing, palpebral fissures short and slant up, hooded eyelids, sparse eyelashes, infraorbital folds, anteverted nares, thin upper lip, fetal pads (hands), low set dysplastic ears Diagnosis/Initial congenital heart defect Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-10-11 14:59:36 +02:00 (CEST) Date last edited N/A

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