Phenotype #0000015262

Individual ID	00016881
Associated disease	DBQD2
Phenotype details	birth weight 2000g, lower limb deformity, multiple dislocations (hip, knee), monkey wrench femoral neck, brachymetacarpy, epiphyseal dysplasia; 13y weight 35 kg (-1), height 98 cm (<-6), flessum hips/knees, valgus deformation lower limbs, patella instability, multiple surgeries, toe deformations, mild intellectual disability
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	13y (13 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 10:04:22 +02:00 (CEST)
Date last edited	2015-12-02 07:05:15 +01:00 (CET)

Global Variome shared LOVD