Phenotype #0000267382

Individual ID 00372053
Associated disease CHTD
Phenotype details small for gestational age (HP:0001518), Short stature (HP:0004322), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Mitral regurgitation (HP:0001653), Tricuspid regurgitation (HP:0005180), Tricuspid valve prolapse (HP:0001704), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Umbilical hernia (HP:0001537), Inguinal hernia (HP:0000023), Neurodevelopmental delay (HP:0012758)
Diagnosis/Initial congenital heart defect
Inheritance Familial, autosomal dominant
Diagnosis/Definite CHDT2
Age/Examination 6y (6 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Aafke Engwerda
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Aafke Engwerda
Date created 2021-05-06 15:07:19 +02:00 (CEST)
Date last edited N/A

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