Phenotype #0000051387

Individual ID	00065281
Associated disease	?
Diagnosis/Initial	Inherited optic neuropathies (IONs)
Diagnosis/Definite	-
Phenotype details	Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Photophobia (HP:0000613); Red-green dyschromatopsia (HP:0000642); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Undetectable visual evoked potentials (HP:0007965); Rod-cone dystrophy (HP:0000510); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Hypoplasia of the optic tract (HP:0007096); Ataxia (HP:0001251); Intellectual disability (HP:0001249); Generalized myoclonic seizure (HP:0002123)
Inheritance	Familial, autosomal recessive
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	00y06m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-05-25 15:50:15 +02:00 (CEST)
Date last edited	2022-06-08 10:04:57 +02:00 (CEST)

Global Variome shared LOVD