Phenotype #0000162038

Individual ID 00213584
Associated disease CMYO4A;CFTD
Phenotype details poor weight gain/suck as infant; 14m-dysarthria, no head/neck control, not ambulatory, moderate diffuse weakness
Diagnosis/Initial fiber-type disproportion, congenital
Inheritance Isolated (sporadic)
Diagnosis/Definite CFTD
Age/Examination -
Age/Diagnosis -
Age/Onset 2m
Phenotype/Onset bifacial paresis, hypotonia
Protein -
Owner name Alan Beggs
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-06-17 17:18:33 +02:00 (CEST)
Date last edited 2012-03-18 12:28:09 +01:00 (CET)

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