Global Variome shared LOVD

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Phenotype #0000159678 Individual ID 00211196 Associated disease GALAC1 Phenotype details Jaundice (HP:0000952), diarrhea (HP:0002014), seizures (HP:0001250), irritability (HP:0000737), poor suck (HP:0002033), sepsis (HP:0100806), hepatomegaly (HP:0002240) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Classic Galactosemia Age/Examination - Age/Diagnosis - Age/Onset 00y00m04d Phenotype/Onset - Protein - Owner name Daffodil Canson Database submission license No license selected Created by Daffodil Canson Date created 2019-01-04 13:28:01 +01:00 (CET) Date last edited 2019-01-09 15:26:39 +01:00 (CET)

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