Phenotype #0000230363

Individual ID	00303287
Associated disease	?
Diagnosis/Initial	arterial tortuosity, fractures
Diagnosis/Definite	-
Phenotype details	see paper; ..., short palpebral fissures; downslanted palpebral fissures; epicanthus; blue sclerae; convex nasal ridge; wide nasal ridge; thin upper lip; flat philtrum; highly arched palate; dolichocephaly; aortic tortuosity; tortuosity of other arteries; aortic root dilatation; no coarctation of the aorta; no arterial stenosis; no abnormal implantation of aortic branches; no arterial dissection; joint hyperlaxity; no fractures; no muscle hypotonia; cutis laxa; thin, velvety skin; no petechiae at birth; cephalohematoma; no respiratory distress; hydronephrosis; no seizures
Inheritance	Familial, X-linked recessive
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-09 14:32:06 +02:00 (CEST)
Date last edited	2022-11-27 11:12:24 +01:00 (CET)

Global Variome shared LOVD