Phenotype #0000170748

Individual ID 00225645
Associated disease -
Phenotype details Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma(HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551); Cystic spaces in the inner nuclear layer in OCT
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Variants in the ACO2 gene
Age/Examination -
Age/Diagnosis 05y
Age/Onset 02y
Phenotype/Onset -
Protein -
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau