Phenotype #0000308031

Individual ID 00416264
Associated disease del 1p36
Diagnosis/Initial 1p36 deletion syndrome
Diagnosis/Definite -
Phenotype details developmental delay; partial seizures, infantile spasms; cerebral malformations, agenesis of the corpus callosum, ventriculomegaly; atrial septal defect, ventricular septal defect; bilateral pupillary coloboma; deeply set eyes, low-set, posteriorly-rotated ears, brachydactyly, hirsuitism
Inheritance Isolated (sporadic)
Age/Examination 8y (8 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2022-08-26 10:31:45 +02:00 (CEST)
Date last edited N/A

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