Phenotype #0000300873

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00408754
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ..., moderate developmental delay/intellectual disability; no autistic behaviour; hypotonia; no aspiration; normal nerve conduction studies; EEG normal; dysmorphism; no cardiac malformation; no cardiac arrhythmia; exotropia
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-04-27 00:00:11 +02:00 (CEST)
Date last edited	N/A

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