Global Variome shared LOVD

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Phenotype #0000309728 Individual ID 00418359 Associated disease CHD Inheritance Isolated (sporadic) Diagnosis/Initial congenital heart defect, left ventricular non-compaction Age/Examination 10y (10 years) Diagnosis/Definite MRXS34 Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details atrial septal defect, left ventricular non-compaction, patent ductus arteriosu, right ventricular hypertrophy, ventricular septal defect; no hypotonia; language delay; gross motor delay; feeding problems; MRI brain 1m-normal, 1y4m-mild truncation splenium of corpus callosum; relative macrocephaly, plagiocephaly, bilateral epicanthal folds, downslanting palpebral fissures, bilateral accessory nipples, widely spaced teeth, fifth finger clinodactyly Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-09-28 19:38:38 +02:00 (CEST) Date last edited N/A

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