Phenotype #0000346597

Individual ID 00458161
Associated disease NDD
Diagnosis/Initial bilateral optic atrophy
Diagnosis/Definite MMDS9B
Phenotype details see paper; ..., childhood onset; >7y-optic atrophy; no hearing impairment; ataxia/balance problems (childhood); sensory neuropathy (childhood); no motor neuropathy; no dizziness; no tremor; 7y-no retinal dystrophy; no macula edema; no retinal vessels attenuation; 18y-cataract; >7y-nystagmus; no squint
Inheritance Familial, autosomal recessive
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset -
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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