Phenotype #0000317227

Individual ID	00426063
Associated disease	?
Diagnosis/Initial	arterial tortuosity, fractures
Diagnosis/Definite	-
Phenotype details	see paper; ..., no short palpebral fissures; no downslanted palpebral fissures; no epicanthus; no blue sclerae; no convex nasal ridge; no wide nasal ridge; no thin upper lip; no flat philtrum; no highly arched palate; no 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; no joint hyperlaxity; fractures; 8m-1 fracture; no muscle hypotonia; no cutis laxa; no thin, velvety skin; no petechiae at birth; no cephalohematoma; no respiratory distress; hydronephrosis (resolved); no seizures
Inheritance	Familial, autosomal recessive
Age/Examination	01y06m (1 year, 6 months)
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	2022-11-27 11:27:40 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD