Phenotype #0000079001

Individual ID 00100788
Associated disease EMPF
Phenotype details see paper; 37w cesarean due to fetal distress; birth profoundly hypotonic with absent respiratory effort required intubation and cardiopulmonary resuscitation for 12 minutes, ...
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset <00y00m00d
Phenotype/Onset -
Protein -
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 2017-03-10 11:37:33 +01:00 (CET)
Date last edited 2017-03-10 11:39:18 +01:00 (CET)

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