Phenotype #0000323855

Individual ID 00433334
Associated disease microcephaly
Diagnosis/Initial primary microcephaly
Diagnosis/Definite -
Phenotype details primary microcephaly, pyramidal syndrome; birth OFC (SD-6), weigth (SD1), length (SD-2); OFC (SD-7), weigth median, length median; no epilepsy; DQ42 (3y11m) (Brunet‐Lezine revised scale); MRI simplified pattern posterior, agenesis corpus callosum, enlarged left ventricle, focal parietal cortical dysplasia; birth OFC (SD-6), weigth (SD1), length (SD-2); OFC (SD-7), weigth median, length median; no epilepsy; DQ42 (3y11m) (Brunet‐Lezine revised scale); MRI simplified pattern posterior, agenesis corpus callosum, enlarged left ventricle, focal parietal cortical dysplasia
Inheritance Familial, autosomal recessive
Age/Examination 3y (3 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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