Phenotype #0000170581

Individual ID 00225466
Associated disease -
Phenotype details birth normal; early development normal; normal speech; normal motor development; no intellectual disabilityy, then delaye; 12y-MRI mild cerebellar atrophy, spinal cord atrophy; 4y-axonal polyneuropathy; 4y-unsteady gait ; phenotype exacerbated by illness and/or stress; claw hand and pes cavus deformities, scoliosis, 10y-sensorineural hearing loss, tracheotomy, ventilation
Diagnosis/Initial neurodegenerative disorder
Inheritance Familial, autosomal recessive
Diagnosis/Definite CONDSIAS
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2019-02-17 09:44:27 +01:00 (CET)
Date last edited 2021-12-08 21:22:12 +01:00 (CET)

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