Phenotype #0000324905

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00434656
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS8
Phenotype details	see paper; ..., severe developmental delay, 14y-not walking independently; 14y-no speech; short stature; hypotonia; early-onset seizures; no macrocephaly; no hypertelorism
Inheritance	Unknown
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-04-06 19:08:17 +02:00 (CEST)
Date last edited	N/A

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