Phenotype #0000241827

Individual ID 00317978
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details multiple cafĂ©-au-lait macules and freckling, severe macrocephaly, peculiar facial gestalt, severe intellectual disability, absent speech, epilepsy, autistic traits, self-harming, aggressiveness
Inheritance Unknown
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-11-05 19:44:15 +01:00 (CET)
Date last edited N/A

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