Phenotype #0000323877

Individual ID 00433356
Associated disease microcephaly
Diagnosis/Initial primary microcephaly
Diagnosis/Definite -
Phenotype details primary microcephaly; birth OFC (SD-5), weigth (SD-2), length (SD-3); OFC (SD-6), weigth (SD-1), length (SD-0.5); no epilepsy; IQ63 (WPPSI‐R); MRI simplified pattern, multiple grey matter ectopias, cyst of the Rathke pouch; birth OFC (SD-5), weigth (SD-2), length (SD-3); OFC (SD-6), weigth (SD-1), length (SD-0.5); no epilepsy; IQ63 (WPPSI‐R); MRI simplified pattern, multiple grey matter ectopias, cyst of the Rathke pouch
Inheritance Familial, autosomal recessive
Age/Examination 6y (6 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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