Phenotype #0000277659

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00383874
Associated disease	-
Phenotype details	hypotony, psychomotor delay, dysmorphic facial features, pathologic myopia, progressive external ophthalmoplegia and diffuse retinal atrophy
Diagnosis/Initial	Atypical Kearns-Sayre syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Combined oxidative phosphorylation deficiency-20
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-09-29 13:08:31 +02:00 (CEST)
Date last edited	N/A

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