Global Variome shared LOVD

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Phenotype #0000256882 Individual ID 00361478 Associated disease ? Diagnosis/Initial neuromuscular disease Diagnosis/Definite IDDSAPN Phenotype details see paper; ..., intellectual disability/global developmental delay; speech delay; no ataxia; no distal muscle atrophy; no hypotonia; no respiratory distress; no tremor; MRI brain normal; no kyphosis/scoliosis Inheritance Familial, autosomal recessive Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset 2y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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