Global Variome shared LOVD

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

Phenotype #0000267374 Individual ID 00372045 Associated disease CHTD Phenotype details broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Abnormal heart morphology (HP:0001627), Mitral regurgitation (HP:0001653), Mitral stenosis (HP:0001718), Hip dysplasia (HP:0001385), no Neurodevelopmental delay (-HP:0012758) Diagnosis/Initial congenital heart defect Inheritance Unknown Diagnosis/Definite CHDT2 Age/Examination 36y (36 years) Age/Onset - Phenotype/Onset - Protein - Owner name Aafke Engwerda Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Aafke Engwerda Date created 2021-05-06 15:07:19 +02:00 (CEST) Date last edited N/A

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