Phenotype #0000304569

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00412575
Associated disease	SRTD10
Phenotype details	skeletal features: brachydactyly; renal disease (end-stage): nephronophthisis (34y); other clinical features:retinal degeneration, cholestasis
Diagnosis/Initial	Mainzer-Saldino syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-06-30 20:55:43 +02:00 (CEST)
Date last edited	N/A

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