Phenotype #0000346591

Individual ID 00458155
Associated disease NDD
Diagnosis/Initial bilateral optic atrophy
Diagnosis/Definite MMDS9B
Phenotype details see paper; ..., 3y-optic atrophy; no hearing impairment; 11y-ataxia/balance problems; no sensory neuropathy; no motor neuropathy; 11y-dizziness; 12y-dizziness; no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; 3y-nystagmus; 3y-squint; latest best corrected visual acuity hand motions; no constricted visual field; no nyctalopia
Inheritance Familial, autosomal recessive
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset 3y
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

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