Phenotype #0000138586

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00173732
Associated disease	ACHM
Phenotype details	see paper; ..., total colorblindness, photophobia, nystagmus, 20/200 visual acuity, normal-appearing retina; ECG slightly lower than normal rod function, no detectable cone response
Diagnosis/Initial	achromatopsia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	ACHM-3
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-07-30 22:12:41 +02:00 (CEST)
Date last edited	N/A

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