Global Variome shared LOVD

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Phenotype #0000300450 Individual ID 00408322 Associated disease ? Diagnosis/Initial Severe delayed developmental milestone/intellectual disability, hypotonia, microcepha,y short stature, hearing impairment Diagnosis/Definite - Phenotype details This patient is part of a series that defines an autosomal recessive phenotype due to biallelic variants in WARS1. Inheritance Familial, autosomal recessive Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Barbara Vona Database submission license Creative Commons Attribution 4.0 International Created by Barbara Vona Date created 2022-04-20 13:17:12 +02:00 (CEST) Date last edited 2022-04-20 17:05:52 +02:00 (CEST)

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