Phenotype #0000245842

Individual ID 00327590
Associated disease neuropathy, optic
Phenotype details Very low visual acuity (HP:0032122);
Dyschromatopsia (HP:0007641);
Congenital nystagmus (HP:0006934);
Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138);
Optic nerve hypoplasia (HP:0000609); Severe constriction of peripheral visual field (HP:0030526); Mild global developmental delay (HP:0011342)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset 01y-05y
Phenotype/Onset -
Protein -
Owner name Aude Rocatcher
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Aude Rocatcher
Date created 2021-01-24 13:47:58 +01:00 (CET)
Date last edited 2021-02-26 08:43:24 +01:00 (CET)

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