Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000104163 Individual ID 00131945 Associated disease ACRDYS2 Phenotype details severe brachydactyly; thick hair; hypertrichosis arms; hip bone replacement–osteoarthrosis; abnormal stature, normal teeth; mil/moderate intellectual disability; dysmorphic face; no clacifications; normal calcium homeastasis; high circulating parathyroid hormone (HP:0003165); vitamin D deficiency (HP:0100512) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 35y (35 years) Age/Diagnosis 35y Age/Onset - Phenotype/Onset - Protein - Owner name Arrate Pereda Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Guiomar Perez de Nanclares Date created 2017-10-04 13:12:37 +02:00 (CEST) Date last edited 2023-03-03 15:16:30 +01:00 (CET)

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