Phenotype #0000015261

Individual ID 00016859
Associated disease DBQD2
Phenotype details birth heigth 41 cm; hypotonia, narrow, thorax, hip dislocation, flat face, monkey wrench femoral neck, epiphyseal dysplasia, knee dislocation, advanced carpal bone age; 20y height 121 cm
(<-6), intellectual disability
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-06-04 15:00:08 +02:00 (CEST)
Date last edited 2015-12-02 06:44:09 +01:00 (CET)

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