Phenotype #0000245481

Individual ID 00327002
Associated disease OPA10
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); Seizure (HP:0001250); Neurodevelopmental delay (HP:0012758); Lactic acidosis (HP:0003128)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 15y (15 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 2021-01-18 11:50:51 +01:00 (CET)
Date last edited 2021-02-01 15:01:37 +01:00 (CET)

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