Phenotype #0000279348

Individual ID	00385553
Associated disease	UL
Phenotype details	skin hyperextensibility, multiple atrophic and "cigarette paper" scars, easy bruising, absence of lingual frenum, generalized joint hypermobility (Beighton score [2]: 9/9), mild right-convex thoracic scoliosis, bilateral genu valgum-recurvatum, cubitus valgus with elbows hyperextensibility, and bilateral pes planus.
Diagnosis/Initial	Classical Ehlers-Danlos syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	Classical Ehlers-Danlos syndrome
Age/Examination	08y (8 years)
Age/Diagnosis	09y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Lucia Micale
Database submission license
Created by	Lucia Micale
Date created	2021-10-13 09:18:56 +02:00 (CEST)
Date last edited	2021-10-14 12:25:29 +02:00 (CEST)

Global Variome shared LOVD