Phenotype #0000269269

Individual ID 00374060
Associated disease CHD
Inheritance Isolated (sporadic)
Diagnosis/Initial congenital heart disease
Age/Examination 04y10m (4 years, 10 months)
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details birth-41w, weight 3685 grams (SD 0.27); abnormality of prenatal development or birth; 5w-social smile; OFC 56 cm (SD 2.19); trioventricular septal defect; sparse scalp hair, high anterior hairline, brachycephaly, depressed nasal bridge, small, widely spaced teeth, Frontal bossing; thoracic cavity stridor; deep plantar creases, 2-3 toe syndactyly, ifnger syndactyly; fragile nails, thin skin, pigmented nevi; scoliosis; generalized hypotonia; asogastric feeding
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 2021-05-22 21:58:15 +02:00 (CEST)
Date last edited N/A

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