Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000021590 Individual ID 00025479 Associated disease MDC Phenotype details He had delayed psychomotor development after birth, muscle hypotonia, and early joint contractures; serum CK was moderately elevated; brain MRI revealed brain structural malformations, cerebellar cyst, and bilateral dilatation of the lateral ventricle, and cerebellar and brainstem dysplasia . He died at the age of 10 months, Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 00y03m (3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Yanghaipo Database submission license No license selected Created by Yanghaipo Date created 2014-12-10 14:26:25 +01:00 (CET) Date last edited 2014-12-12 13:13:22 +01:00 (CET)

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