Phenotype #0000015264

Individual ID	00016883
Associated disease	DBQD2
Phenotype details	birth term, heigth 44cm; 3.5m height 48.5cm; head control-2m, hip dislocation (right), knee dislocation, simian creases, hypermobile fingers, flat face, blue sclerae; neonatal period advanced carpal ossification, right hip and bilateral knee dislocation; 8m advanced bone age, elbow dislocation; 11m height 56cm; 5y6m height 84cm (-5.5), coarse and round face, full cheek, long philtrum, mild micrognathia, hypermobile fingers, moderate truncal obesity, pectus excavatum; sit-9m, walk-3y
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	05y06m (5 years, 6 months)
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 10:25:06 +02:00 (CEST)
Date last edited	2015-12-02 07:20:24 +01:00 (CET)

Global Variome shared LOVD