Phenotype #0000229930

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00302849
Associated disease	NBIA
Phenotype details	see paper; ..., classic Rett syndrome, early motor development normal, sit-7m, walk-24m, no speech development, microcephaly; 24m-bruxism, stereotypic movements; 36m-epileptic seizures
Diagnosis/Initial	Rett-like syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	NBIA5
Age/Examination	06y (6 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-02 13:09:12 +02:00 (CEST)
Date last edited	N/A

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