Phenotype #0000036630

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00049858
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	see paper; hypotonia, spasticity, developmental delay, vision defect, sensorineural hearing loss, no microcephaly, MRI enlarged cerebrospinal fluid spaces, seizures, EEG abnormal, gastrointestinal issues, …
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-09-13 12:02:52 +02:00 (CEST)
Date last edited	2015-09-13 12:50:27 +02:00 (CEST)

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