Phenotype #0000334402

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00445148
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ...; EEG abnormal; no autism, no autistic features; delayed development, intellectual disability, epilepsy, strabismus, 27m-right cryptorchidism with orchiopexy, wide-based gait, dysarthric speech, dysmorphisms, abnormal MRI brain findings
Inheritance	Isolated (sporadic)
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-01-05 10:36:32 +01:00 (CET)
Date last edited	N/A

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