Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000245845 Individual ID 00327593 Associated disease neuropathy, optic Phenotype details Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Strabismus (HP:0000486); Photophobia (HP:0000613); Temporal optic disc pallor (HP:0012511); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Intellectual disability (HP:0001249) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset 03y Phenotype/Onset - Protein - Owner name Aude Rocatcher Database submission license Creative Commons Attribution 4.0 International Created by Aude Rocatcher Date created 2021-01-24 14:42:34 +01:00 (CET) Date last edited 2021-02-26 08:43:24 +01:00 (CET)

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