Global Variome shared LOVD
SHOX (short stature homeobox)
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Curators:
Gudrun Rappold
and
Ralph Roeth
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Phenotype #0000236124
Individual ID
00310853
Associated disease
NDD
Diagnosis/Initial
neurodevelopmental delay
Diagnosis/Definite
-
Phenotype details
see paper; ..., severe intellectual disability, autism spectrum disorder, focal seizures, generalised seizures, dystonic movement disorder, developmental regression
Inheritance
Isolated (sporadic)
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2020-09-13 12:38:57 +02:00 (CEST)
Date last edited
2023-02-02 09:15:23 +01:00 (CET)
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