Phenotype #0000256877

Individual ID 00361473
Associated disease ?
Diagnosis/Initial neuromuscular disease
Diagnosis/Definite IDDSAPN
Phenotype details see paper; ..., intellectual disability/global developmental delay; speech delay; neuropathy (axonal); ataxia; distal muscle atrophy; no hypotonia; no respiratory distress; tremor; kyphosis/scoliosis
Inheritance Familial, autosomal recessive
Age/Examination 7y7m (7 years, 7 months)
Age/Diagnosis -
Age/Onset 1y6m
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2021-04-07 10:15:22 +02:00 (CEST)
Date last edited N/A

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