Phenotype #0000082237

Individual ID 00104296
Associated disease RSMD
Phenotype details neonatal hypotonia, respiratory failure at birth, facial weakness; WB SEPN1 faint; w13m
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 29y
Age/Onset -
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 2008-09-19 21:01:10 +02:00 (CEST)
Date last edited 2012-03-09 18:58:40 +01:00 (CET)

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