COG5-CDG (CDG-IIi)
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Description
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
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Shoulder flexion contracture |
| Spasticity of pharyngeal muscles |
| Motor delay |
| Delayed speech and language development |
| Infantile muscular hypotonia |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| 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.
Click on a symptom to see definitions for associated terms.
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Colorado Springs, CO, 80937, Toll Free: (866) 295-7910 Email: info@cdgcare.com Url: http://cdgcare.com/ Name: Portugese Association for CDG and other Rare Metabolic Diseases APCDG-DMR Url: http://www.apcdg.com/
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