Phenotype #0000155497

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00207706
Associated disease	STL4
Phenotype details	Congenital sensorineural hearing loss High myopia Hypoplastic vitreous gel Severe arthropathy in shoulders and hip Spinal scoliosis
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Stickler Syndrome
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Thomas Nixon
Database submission license	No license selected
Created by	Thomas Nixon
Date created	2018-11-29 00:19:52 +01:00 (CET)
Date last edited	2018-12-07 19:29:53 +01:00 (CET)

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