Global Variome shared LOVD
B4GALT7 (beta-1,4-galactosyltransferase 7)
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Curator:
Raymond Dalgleish
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Phenotype #0000322430
Individual ID
00431861
Associated disease
SOTOS
Phenotype details
Global developmental delay, Motor delay, Hypotonia, Delayed speech and language development, Short attention span, Tall stature, Delayed social development, Abnormal emotion/affect behavior
Diagnosis/Initial
-
Inheritance
Unknown
Diagnosis/Definite
-
Age/Examination
06y (6 years)
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Andreas Laner
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Andreas Laner
Date created
2023-02-16 18:07:27 +01:00 (CET)
Date last edited
2023-02-17 16:29:17 +01:00 (CET)
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