Global Variome shared LOVD

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Phenotype #0000160341 Individual ID 00211860 Associated disease CNM Phenotype details 0d-decreased muscle tone, club feet, long fingers, hypospadias, cryptorchisism, micropenis; MRI-brain open opercula, inferior vermis hypoplasia, cerebellar hemorrhage, choroid plexus Diagnosis/Initial myotubular myopathy Inheritance Isolated (sporadic) Diagnosis/Definite CNMX Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset respiratory failure, severe hypotonia, multiple congential anomalies Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-11-12 14:54:39 +01:00 (CET) Date last edited 2012-06-22 15:49:43 +02:00 (CEST)

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