Phenotype #0000350183

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00464121
Associated disease	RSTS
Diagnosis/Initial	Rubinstein-Taybi syndrome
Diagnosis/Definite	RSTS1
Phenotype details	downslanted palpebral fissures, highly arched eyebrow, broad thumbs/halluces/distal phalanx other fingers, intellectual disability, postnatal growth retardation; hypertrichosis shoulders; long philtrum, low- set dysplastic ears, short neck, low anterior hairline
Inheritance	Unknown
Age/Examination	1.2y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-02-22 11:39:16 +01:00 (CET)
Date last edited	N/A

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