Global Variome shared LOVD

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

Phenotype #0000073736 Individual ID 00095336 Associated disease ACC Inheritance Familial, autosomal dominant Diagnosis/Initial - Phenotype details severity score Woods & Teuber 2; no functional effect motor skills; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R) Diagnosis/Definite - Age/Diagnosis - Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Ashley Marsh Database submission license No license selected Created by Ashley Marsh Date created 2017-01-13 22:04:50 +01:00 (CET) Date last edited 2019-07-28 11:10:18 +02:00 (CEST)

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