Phenotype #0000001951

Individual ID 00003131
Associated disease OFD9
Phenotype details severe midline cleft lip/palate, microcephaly, choanal atresia, severe coloboma, congenital heart disease (ASD, VSD), micropenis, abnormal inner ear structures; brain MRI pachygyria, absent corpus callosum; required oxygen supplementation untill 2m, severe respiratory tract infection; cardiorespiratory arrest , died at 3m
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Fowzan Alkuraya
Database submission license No license selected
Created by Johan den Dunnen
Date created 2013-10-31 13:54:39 +01:00 (CET)
Date last edited 2013-11-01 16:37:58 +01:00 (CET)

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