Global Variome shared LOVD
XYLT1 (xylosyltransferase I)
LOVD v.3.0 Build 30b [
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Curator:
Cynthia Silveira
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Phenotype #0000280738
Individual ID
00386941
Associated disease
XLID9;MRX9
Phenotype details
Neurodevelopmental delay, Muscular hypotonia, Dystonia, Foot dorsiflexor weakness, Abnormal putamen morphology, Abnormality of the cerebral white matter, Hydrocephalus, Abnormality of the midface
Diagnosis/Initial
-
Inheritance
Unknown
Diagnosis/Definite
-
Age/Examination
01y (1 year)
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Andreas Laner
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Andreas Laner
Date created
2021-10-27 16:40:00 +02:00 (CEST)
Date last edited
2021-10-28 07:56:47 +02:00 (CEST)
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