Phenotype #0000051185

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00065048
Associated disease	CCTRCT
Phenotype details	R: nuclear, sutural, posterior plaque cataract; R: PFV, microphthalmia, horizontal jerk nystagmus, right divergent squint, strabismus; mild microcephaly, developmental delay, hypotonia, up-slanted and long palpebral fissures, small tapered fingers
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-05-15 22:17:13 +02:00 (CEST)
Date last edited	N/A

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