Global Variome shared LOVD
TUBA1A (tubulin, alpha 1a)
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Curator:
Julian Schröter
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Phenotype #0000081338
Individual ID
00103258
Associated disease
NS
Phenotype details
Several dysmorphic facial features, short stature, pubertal development delay, moderate language deficit, cryptorchidism, cardiac defect. Dysembryoplastic neuroepithelial tumor (DNT)
Diagnosis/Initial
-
Inheritance
Unknown
Diagnosis/Definite
-
Age/Examination
16y (16 years)
Age/Diagnosis
14y
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Gerard C.P. Schaafsma
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Gerard C.P. Schaafsma
Date created
2017-04-13 10:41:35 +02:00 (CEST)
Date last edited
2017-04-13 10:47:44 +02:00 (CEST)
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