Phenotype #0000245783

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00327502
Associated disease	SRTD
Diagnosis/Initial	Jeune syndrome
Diagnosis/Definite	SRTD8
Phenotype details	see paper; ...; 21w-ultrasound short femora; birth-41w, narrow chest, preaxial polydactyly right hand (extra digit removed by surgery), small clinically insignificant ventricular septal defect; 1y-failure to thrive
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-01-22 12:24:54 +01:00 (CET)
Date last edited	N/A

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