Phenotype #0000308034

Individual ID 00416267
Associated disease del 1p36
Diagnosis/Initial 1p36 deletion syndrome
Diagnosis/Definite -
Phenotype details ; ventriculomegaly, marked pachygyria, absent septum pellucidum, thinned corpus callosum; tetralogy of Fallot; deeply set eyes, small palpebral fissures, low-set ears with thickened helices, camptodactyly, joint contractures, pointed chin; intestinal obstruction with suspected deudenal atresia
Inheritance Isolated (sporadic)
Age/Examination 2d
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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