Phenotype #0000349749

Individual ID 00462249
Associated disease CHANDS
Diagnosis/Initial CHAND syndrome
Diagnosis/Definite CHAND
Phenotype details see paper; ..., birth-38w, weight 2820g (20th centile), length 47cm (13th centile), OFC 34cm (41th centile), ankyloblepharon (required early surgery; ECG normal, ultrasound brain normal, normal retina; abdominal ultrasound unilateral ureteral dilatation; 1m-nail dysplasia, dry skin, bifid tongue, multiple oral frenula; 3y-deciduous teeth normal, hair curly, hair wooly, hair sparse; normal growth parameters; normal motor development, 13m-walk; slight speech delay,attended regular school
Inheritance Familial, autosomal recessive
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2025-02-06 16:21:44 +01:00 (CET)
Date last edited N/A

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