Global Variome shared LOVD
DSP (desmoplakin)
LOVD v.3.0 Build 30b [
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Curator:
Paul van der Zwaag
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Phenotype #0000350492
Individual ID
00464463
Associated disease
SGS
Phenotype details
Intellectual disability, Delayed speech and language development, Obesity, Brachycephaly, Anteverted nares, Synophrys, Abnormal dental enamel morphology, Short stature, Microcephaly, Neurodevelopmental delay
Diagnosis/Initial
-
Inheritance
Unknown
Diagnosis/Definite
-
Age/Examination
13y (13 years)
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
2025-03-17 16:39:05 +01:00 (CET)
Date last edited
2025-03-31 14:19:57 +02:00 (CEST)
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