Phenotype #0000337121

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00447929
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris Syndrome
Diagnosis/Definite	CSS6
Phenotype details	see paper; ..., weight 3.15 kg, length 50.1 cm; congenital heart disease, PDA/PFO; 18m-walk; 19m-first words; strabismus; astigmatism; tonsillectomy/adenoidectomy; no 5th digit anomalies;
Inheritance	Unknown
Age/Examination	4y6m (4 years, 6 months)
Age/Diagnosis	20m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-02-01 16:08:19 +01:00 (CET)
Date last edited	N/A

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