Phenotype #0000317224

Individual ID	00426060
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; no aortic root dilatation; coarctation of the aorta; arterial stenosis; abnormal implantation of aortic branches; no arterial dissection; no joint hyperlaxity; fractures; 21d-7 fractures; no muscle hypotonia; no cutis laxa; no thin, velvety skin; no petechiae at birth; no cephalohematoma; respiratory distress; hydronephrosis; no seizures
Inheritance	Familial, autosomal recessive
Age/Examination	00y03m (3 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	2020-06-09 14:32:06 +02:00 (CEST)
Date last edited	2022-11-27 11:05:56 +01:00 (CET)

Global Variome shared LOVD