Phenotype #0000279498

Individual ID 00385550
Associated disease CHTD
Phenotype details facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; bicuspid aortic valve; myocardial non-compaction; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short stature; small extremities; short limbs; lumbar/sacral anomalies
Diagnosis/Initial congenital heart defect
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 28y (28 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-10-12 19:25:07 +02:00 (CEST)
Date last edited N/A

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