Phenotype #0000323862

Individual ID 00433341
Associated disease microcephaly
Diagnosis/Initial primary microcephaly
Diagnosis/Definite -
Phenotype details primary microcephaly; birth OFC (SD-3.5), weigth (SD+0.5), length median; OFC (SD-5.5), weigth (SD-1.5), length (SD-1); 3y-generalized, tonic‐clonic, no treatment; IQ50 (6y) (Mc Carthy); MRI simplified pattern; birth OFC (SD-3.5), weigth (SD+0.5), length median; OFC (SD-5.5), weigth (SD-1.5), length (SD-1); 3y-generalized, tonic‐clonic, no treatment; IQ50 (6y) (Mc Carthy); MRI simplified pattern
Inheritance Familial, autosomal recessive
Age/Examination 14y (14 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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