Phenotype #0000302570 - Global Variome shared LOVD

Global Variome shared LOVD

NBN (nibrin)

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

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Phenotype #0000302570

Individual ID	00410464
Associated disease	Rett syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Initial	Rett/Rett-like syndrome
Age/Examination	05y10m (5 years, 10 months)
Diagnosis/Definite	DEE72
Age/Diagnosis	06y10m
Age/Onset	00y08m
Phenotype/Onset	8m
Phenotype details	Microcephaly Hypotonia Gait disturbance Intellectual disability Absent speech Aggressive behavior Partial agenesis of the corpus callosum Absent septum pellucidum
Protein	not available
Owner name	Edoardo Errichiello
Database submission license
Created by	Edoardo Errichiello
Date created	2022-05-26 13:57:02 +02:00 (CEST)
Date last edited	2022-05-30 12:44:40 +02:00 (CEST)

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