Phenotype #0000350172

Individual ID	00464110
Associated disease	RSTS
Diagnosis/Initial	Rubinstein-Taybi syndrome
Diagnosis/Definite	RSTS1
Phenotype details	microcephaly, highly arched eyebrow, columella below alae nasi, broad thumbs, halluces and distal phalanx of other fingers, intellectual disability, postnatal growth retardation; strabismus, hypermetropia, epicanthal folds thin lips, long philtrum, low-set ears, 2-3-4-5 finger cutaneous syndactyly, 1-2-3 toe syndactyly, short thorax, cardiovascular anomalies (bicuspid aortic valve, mild aortic valve stenosis)
Inheritance	Unknown
Age/Examination	0.9y
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

Global Variome shared LOVD