Global Variome shared LOVD
BSCL2 (Berardinelli-Seip congenital lipodystrophy 2...)
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Curators:
María-Jesús Sobrido
and
Sergio Piñeiro
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Phenotype #0000356251
Individual ID
00471412
Associated disease
ID
Diagnosis/Initial
intellectual disability
Diagnosis/Definite
IDLDP
Inheritance
Unknown
Phenotype details
see paper; ..., mild intellectual disability; 30y-left-handed tremor, behavioral changes (physical inactivity, clumsiness); 40y-dystonia, bradykinesia, rigidity (prominently affecting left side body)
Age/Examination
50y (50 years)
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2025-12-21 13:51:20 +01:00 (CET)
Date last edited
N/A
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