Phenotype #0000110006

Individual ID	00137258
Associated disease	MD
Phenotype details	born at term, 3.4 Kg, 50.8 cm; significant hypotonia, joint laxity, severe tracheomalacia and reflux (tracheotomy, G-tube), pyloric stenosis; 14m-small size (weight/length 20th centile), head circumference 15th centile, flattened nasal bridge, hyperterlorism, persistent micrognathia, decreased head control, decreased muscle mass (upper/lower extremities), hypotonia (central/distal hypotonia); 16m-extreme hypotonia, hyperflexible joints, tracheostomy assisted breathing, not ambulant, could not sit unsupported; elevated serum CPK (HP:0003236) 1,306 U/L
Diagnosis/Initial	dystrophy, muscular, atypical
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	8d
Phenotype/Onset	intractable vomiting, lethargy, micrognathia, dysmorphic features
Protein	WB DMD reduced size
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2010-09-10 19:31:01 +02:00 (CEST)
Date last edited	2012-03-09 19:08:25 +01:00 (CET)

Global Variome shared LOVD