Phenotype #0000044554

Individual ID 00057267
Associated disease MCPH5
Phenotype details microcephaly; brain magnetic resonance imaging: simplified gyral pattern; additional clinical featuresseizures, behavioural problems, short stature, obesity, severe intellectual disability
Diagnosis/Initial microcephaly
Inheritance Familial, autosomal recessive
Diagnosis/Definite MCPH5
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Birgit Sikkema-Raddatz
Database submission license No license selected
Created by Birgit Sikkema-Raddatz
Date created 2016-01-25 10:57:36 +01:00 (CET)
Date last edited 2023-03-07 18:29:33 +01:00 (CET)

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