Don’t fight COG5-CDG (CDG-IIi) alone.
Find your community on the free RareGuru App.The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 263487
Definition
COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
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Shoulder flexion contracture |
Spasticity of pharyngeal muscles |
Motor delay |
Delayed speech and language development |
Infantile muscular hypotonia |
30%-79% of people have these symptoms.
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Low-set ears |
Macular degeneration |
Abnormal thrombocyte morphology |
Enanthema |
Diastema |
Unerupted tooth |
Short stature |
Intellectual disability, severe |
Microcephaly |
Posteriorly rotated ears |
Prominent nose |
5%-29% of people have these symptoms.
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An unknown % of people have these symptoms.
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