Phenotype #0000125491

Individual ID 00151831
Associated disease RFMN
Diagnosis/Initial syndrome, Roifman
Diagnosis/Definite -
Phenotype details Hepatomegaly, neonatal jaundice, short stature, Intrauterine growth restriction (IUGR), recurrent infections, Eczema, Hypotonia
Inheritance Familial, autosomal recessive
Age/Examination 00y ()
Age/Diagnosis 05y
Age/Onset -
Phenotype/Onset neonatal jaundice
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-02-02 17:33:05 +01:00 (CET)
Date last edited 2018-02-02 17:34:53 +01:00 (CET)

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