Global Variome shared LOVD

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

Phenotype #0000267375 Individual ID 00372046 Associated disease CHTD Phenotype details not small for gestational age (-HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), High palate (HP:0000218), Wide mouth (HP:0000154), Abnormal heart morphology (HP:0001627), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Thoracic aortic aneurysm (HP:0012727), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Hip dysplasia (HP:0001385), Cryptorchidism (HP:0000028), Neurodevelopmental delay (HP:0012758) Diagnosis/Initial congenital heart defect Inheritance Familial, autosomal dominant Diagnosis/Definite CHDT2 Age/Examination 8y (8 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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