Phenotype #0000346592

Individual ID 00458156
Associated disease NDD
Diagnosis/Initial bilateral optic atrophy
Diagnosis/Definite MMDS9B
Phenotype details see paper; ..., 11y-optic atrophy; 11y-hearing impairment; ataxia/balance problems (late teens); sensory neuropathy (late teens); motor neuropathy (late teens); no dizziness; no tremor; 4y-no retinal dystrophy; 5y-macula edema; 11y-retinal vessels attenuation; 11y-cataract; no nystagmus; no squint; latest best corrected visual acuity light perception; constricted visual field; nyctalopia
Inheritance Familial, autosomal recessive
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset 4y
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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