Phenotype #0000127801

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00155300
Associated disease	RPSKA
Diagnosis/Initial	retinitis pigmentosa
Diagnosis/Definite	RPSKA
Phenotype details	no cranio-facial defects (-HP:0000234), mild brachydactyly (HP:0001156), short stature (HP:0004322), Leber congenital amaurosis, no neurological defects (-HP:0000707)
Inheritance	Familial, autosomal recessive
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	01y
Phenotype/Onset	Leber congenital amaurosis
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-03-21 19:16:10 +01:00 (CET)
Date last edited	N/A

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