Phenotype #0000245782

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00327500
Associated disease	SRTD
Diagnosis/Initial	SRPS type III
Diagnosis/Definite	SRTD8
Phenotype details	see paper; ..., 2h-deceased, 16w-ultrasound short long bones; 31w-ultrasound polyhydramnios, severe shortening of long bones with bowed femurs, macrocephaly, short ribs, and ambiguous genitalia
Inheritance	Familial, autosomal recessive
Age/Examination	00y00m01d (1 day)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-01-22 12:10:09 +01:00 (CET)
Date last edited	N/A

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