Phenotype #0000324904

Individual ID 00434655
Associated disease CSS
Diagnosis/Initial Coffin-Siris syndrome
Diagnosis/Definite CSS8
Phenotype details see paper; ..., severe developmental delay, 4y-walk; 8y-no speech; short stature; hypotonia; thin corpus callosum; seizures; macrocephaly; hypertelorism
Inheritance Isolated (sporadic)
Age/Examination 08y (8 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-04-06 19:03:16 +02:00 (CEST)
Date last edited N/A

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