Global Variome shared LOVD

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Phenotype #0000278959 Individual ID 00385163 Associated disease - Phenotype details HP:0001263 Global developmental delay; HP:0000365 Hearing impairment/loss; HP:0000821 Hypothyroidism; HP:0001508 Failure to thrive; HP:0001410 Decreased liver function; HP:0000548 Cone/cone-rod dystrophy Diagnosis/Initial Mevalonic aciduria (AR) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 11m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-10-08 17:29:22 +02:00 (CEST) Date last edited N/A

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