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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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