Phenotype #0000170749

Individual ID 00225646
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)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Optic neuropthy associated with novel variant in the ACO2 gene
Age/Examination -
Age/Diagnosis 09y
Age/Onset 08y
Phenotype/Onset -
Protein -
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Date created 2019-02-22 10:13:22 +01:00 (CET)
Date last edited 2020-05-18 15:33:28 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.