Phenotype #0000267381

Individual ID 00372052
Associated disease CHTD
Phenotype details small for gestational age (HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), Upslanted palpebral fissure (HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), no Ears abnormal position (-HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), no Hypotonia (-HP:0001252), no Neurodevelopmental delay (-HP:0012758)
Diagnosis/Initial congenital heart defect
Inheritance Familial, autosomal dominant
Diagnosis/Definite CHDT2
Age/Examination 5y (5 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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