Global Variome shared LOVD

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Phenotype #0000104261 Individual ID 00132077 Associated disease ACG1A Phenotype details see paper; ..., neonatal death, spondylodysplastic dysplasias Diagnosis/Initial achondrogenesis Inheritance Familial, autosomal recessive Diagnosis/Definite ACG1A Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Karina Silveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-10-22 00:07:26 +02:00 (CEST) Date last edited 2026-06-04 19:49:49 +02:00 (CEST)

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