ALG9-CDG (CDG-IL)
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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: 79328
Definition
A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).
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.
| Cerebral hemorrhage |
| Psychotic mentation |
| Plantar crease between first and second toes |
| Hepatic failure |
| Cognitive impairment |
| Muscular hypotonia |
| Seizures |
1%-4% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Abnormal facial shape |
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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