Phenotype #0000122559

Individual ID 00150157
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details intellectual diability, microcephaly, cortical dysplasia, Dandy Walker, agenesis of CC, decreased number of sulci and gyrus, cortical gray matter increased, high CPK, encephalocele, microphthalmia, leukocoria (right eye) and enophthalmia (bilaterally), choroid and retinal coloboma
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2018-01-13 12:41:38 +01:00 (CET)
Date last edited N/A

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