Phenotype #0000347567

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00459490
Associated disease	CPSFS1B
Diagnosis/Initial	contractures, pterygia, and spondylocarpotarsal fusion syndrome
Diagnosis/Definite	CPSFS1B
Phenotype details	defect lower right thoracic wall with herniation lower pole right lung; right kidney ectopically positioned
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Amatul Raqeeb Jawaid
Database submission license	No license selected
Created by	Amatul Raqeeb Jawaid
Date created	2025-01-06 09:04:17 +01:00 (CET)
Date last edited	2025-01-06 12:20:57 +01:00 (CET)

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