Phenotype #0000267376

Individual ID 00372047
Associated disease CHTD
Phenotype details not small for gestational age (-HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), 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), Short neck (HP:0000470), Broad neck (HP:0000475), High palate (HP:0000218), Abnormal heart morphology (HP:0001627), Bicuspid aortic valve (HP:0001647), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Thoracic aortic aneurysm (HP:0012727), no Joint hypermobility (-HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), 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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