Global Variome shared LOVD
CDKN2A (cyclin-dependent kinase inhibitor 2A)
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Curator:
Nienke van der Stoep
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Phenotype #0000322863
Individual ID
00432295
Associated disease
Rett syndrome
Inheritance
Isolated (sporadic)
Diagnosis/Initial
-
Age/Examination
-
Diagnosis/Definite
1y
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Phenotype details
Delayed speech and language development, Delayed gross motor development, Impaired social interactions, Axial hypotonia, Abnormal intestine morphology, Chronic diarrhea, Delayed fine motor development
Protein
-
Owner name
Andreas Laner
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Andreas Laner
Date created
2023-02-21 11:54:29 +01:00 (CET)
Date last edited
2023-02-21 16:06:38 +01:00 (CET)
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