Phenotype #0000337181

Individual ID 00447992
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., pregnancy complicated by gestational diabetes; complete agenesis corpus callosum, bilateral periventricular nodular heterotopia, bilateral chorioretinal, iris colobomas; frontal bossing, left ptosis, dysplastic left ear, hemangiomas right forehead, left knee and shoulder and right vulva, bilateral leukocoria, hearing loss, ventricular septal defects, vesicoureteral reflux, hyperreflexia all four extremities
Inheritance Isolated (sporadic)
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 2024-02-08 11:00:37 +01:00 (CET)
Date last edited N/A

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