Global Variome shared LOVD

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Phenotype #0000166541 Individual ID 00218092 Associated disease DD Phenotype details Profound global developmental delay (HP:0012736), Poor speech (HP:0002465), Abnormality of facial skeleton (HP:0011821), Growth abnormality (HP:0001507), biochemical Adenylosuccinase deficiency Diagnosis/Initial 9y Inheritance Familial, autosomal recessive Diagnosis/Definite 15y Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2019-01-22 10:33:29 +01:00 (CET) Date last edited 2019-01-22 13:19:42 +01:00 (CET)

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