Phenotype #0000172604

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00228666
Associated disease	DPDD
Phenotype details	see paper; ..., congenital blindness delayed early gross motor and social milestones; 8m-visual impairment improved, development normalized; 10's-gastrointestinal dysmotility; 19y-intellectually normal
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	DPDD
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Enzyme/Activity	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-03-23 16:38:19 +01:00 (CET)
Date last edited	N/A

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