Global Variome shared LOVD

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Phenotype #0000021597 Individual ID 00025485 Associated disease MDC Phenotype details developmental milestones were characterized by obvious gross delay,Physical examination determined that he had facial myopathy and poor eyesight. His head circumference at the age of 7 years was 49 cm, and he had high arched palate, bilateral knee joint contracture, muscle weakness, and absence of tendon reflexes. Brain MRI revealed bilateral dilation of the lateral and fourth ventricles, brain stem hypoplasia, and a cerebellar cyst The white matter on the left side of the brain had demyelination changes. His serum CK level was 6620 U/L. Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Yanghaipo Database submission license No license selected Created by Yanghaipo Date created 2014-12-11 11:44:21 +01:00 (CET) Date last edited 2014-12-12 12:45:54 +01:00 (CET)

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