Phenotype #0000015266

Individual ID 00016888
Associated disease DBQD2
Phenotype details born 36w, heigth 33 cm, weight, 1200 g; cleft palate, subluxation right knee, monkey wrench, advanced carpal ossification, tarsal extra ossification, double proximal femoral epiphyses, short phalanges with short 1st metacarpal; 12m height 50 cm (<-6), hypermobile joints; first 2m respiratory problems; 2y normal motor development
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 02y (2 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 2014-06-05 11:18:15 +02:00 (CEST)
Date last edited 2015-12-02 07:56:49 +01:00 (CET)

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