Phenotype #0000323884

Individual ID 00433363
Associated disease microcephaly
Diagnosis/Initial primary microcephaly
Diagnosis/Definite -
Phenotype details primary microcephaly; birth OFC (SD-2), weigth (SD-2), length (SD-0.5); OFC (SD-5), weigth (SD-2), length (SD+0.5); 2y-generalized, tonic‐clonic., refractory under VPA and CMZ +gamma‐globulins; severe intellectual disability; MRI lissencephaly, pachygyria; birth OFC (SD-2), weigth (SD-2), length (SD-0.5); OFC (SD-5), weigth (SD-2), length (SD+0.5); 2y-generalized, tonic‐clonic., refractory under VPA and CMZ +gamma‐globulins; severe intellectual disability; MRI lissencephaly, pachygyria
Inheritance Familial, autosomal recessive
Age/Examination 26y (26 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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