Global Variome shared LOVD

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Phenotype #0000050426 Individual ID 00063838 Associated disease CNM Phenotype details 0.20 central nuclei, minicores, type I predominance/no hypertrophy; respiratory problems (HP:0002093) at birth not at last exam, feeding problems (HP:0011968) at birth, hypotonia (HP:0001252) at birth, delayed motor milestones (HP:0001270), no abnormality extraocular muscles (-HP:0008049), scoliosis (HP:0002650), contractures ankles (HP:0006466) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 00y00m00d Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-04-19 10:35:06 +02:00 (CEST) Date last edited N/A

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