Global Variome shared LOVD

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Phenotype #0000267380 Individual ID 00372051 Associated disease CHTD Phenotype details small for gestational age (HP:0001518), Disproportionate short-limb short stature (HP:0008873), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), Upslanted palpebral fissure (HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Pulmonic stenosis (HP:0001642), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Umbilical hernia (HP:0001537), no Neurodevelopmental delay (-HP:0012758) Diagnosis/Initial congenital heart defect Inheritance Familial, autosomal dominant Diagnosis/Definite CHDT2 Age/Examination 2y (2 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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