Phenotype #0000050423

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00063833
Associated disease	BBS
Phenotype details	CRD/RP, polydactyly, obesity, intellectual disability, hypogonadism. Left kidney: focal caliectasis in upper and interpolar region. Elevated liver enzymes, hypodontia, speech disability, gynaecomastia.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Muhammad Ajmal
Database submission license	No license selected
Created by	Muhammad Ajmal
Date created	2016-04-18 19:35:41 +02:00 (CEST)
Date last edited	2016-04-19 09:13:37 +02:00 (CEST)

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