Phenotype #0000323874

Individual ID 00433353
Associated disease microcephaly
Diagnosis/Initial primary microcephaly
Diagnosis/Definite -
Phenotype details Cockayne syndrome; birth OFC (SD-1), weigth (SD-0.5), length (SD-0.5); OFC (SD-6), weigth (SD-3), length (SD-6); 22m-generalized, tonic‐clonic, treatment VPA; severe intellectual disability; birth OFC (SD-1), weigth (SD-0.5), length (SD-0.5); OFC (SD-6), weigth (SD-3), length (SD-6); 22m-generalized, tonic‐clonic, treatment VPA; severe intellectual disability
Inheritance Familial, autosomal recessive
Age/Examination 11y (11 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 2023-03-06 14:23:39 +01:00 (CET)
Date last edited N/A

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