Phenotype #0000346594

Individual ID 00458158
Associated disease NDD
Diagnosis/Initial bilateral optic atrophy
Diagnosis/Definite MMDS9B
Phenotype details see paper; ..., 7y-optic atrophy; 20y-hearing impairment; no ataxia/balance problems; no sensory neuropathy; no motor neuropathy; dizziness (late teens); 15y-dizziness; 7y-no retinal dystrophy; no macula edema; 8y-retinal vessels attenuation; 18y-cataract; 14y-nystagmus; 16y-squint; latest best corrected visual acuity hand motions and light perception; constricted visual field; nyctalopia
Inheritance Familial, autosomal recessive
Age/Examination 26y (26 years)
Age/Diagnosis -
Age/Onset 7y
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-12-03 16:21:33 +01:00 (CET)
Date last edited N/A

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.