RS1131691804 FBN1
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Associated Conditions
Metaphyseal chondrodysplasia
Relative macrocephaly
Wide mouth
Wide nasal bridge
Short stature
Geleophysic dysplasia
Geleophysic dysplasia 2
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
Acromicric dysplasia
8 conditions
FBN1-related disorder
Metaphyseal chondrodysplasia
Relative macrocephaly
Other Variants in FBN1