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 InternationalCreative Commons License
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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