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We don’t have a description for this disease, disorder, or syndrome yet.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Proximal tapering of metacarpals|
|Reduced factor IX activity|
|Delayed phalangeal epiphyseal ossification|
|Olfactory lobe agenesis|
|Broad long bone diaphyses|
|Abnormality of the mouth|
|Frontal cutaneous lipoma|
|Decreased circulating total IgM|
|Juvenile epithelial corneal dystrophy|
|Autosomal recessive inheritance|
|Decreased circulating IgA level|
|Decreased circulating IgG level|
|Failure to thrive|
|Megaloblastic bone marrow|
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