Global Variome shared LOVD

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Phenotype #0000162035 Individual ID 00213581 Associated disease CMYO4A;CFTD Phenotype details history of cryptorchidism, PDD/ADHD and verbal learning disorder; 5.5y-facial weakness, but relatively normal tone and strength; able to run, current ability unknown; walk-18m; run Diagnosis/Initial fiber-type disproportion, congenital Inheritance Familial Diagnosis/Definite CFTD Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset poor suck, slow feeding, hypotonia Protein - Owner name Alan Beggs Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-06-17 17:13:34 +02:00 (CEST) Date last edited 2012-03-18 11:20:14 +01:00 (CET)

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