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Congenital Disorder of Glycosylation, Type Iq
CDG1Q

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Prevalence (%) of clinical parameters based on data from 1 references describing 7 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Nystagmus nervous 100 % 20637498 2024-04-30
Hypotonia nervous 100 % 20637498 2024-04-30
Mental retardation nervous 100 % 20637498 2024-04-30
Coloboma nervous 86 % 20637498 2024-04-30
Increased blood transaminase circulatory 86 % 20637498 2024-04-30
Optic atrophy nervous 71 % 20637498 2024-04-30
Microcytic anemia circulatory 71 % 20637498 2024-04-30
Coagulopathy circulatory 71 % 20637498 2024-04-30
Decreased blood protein S circulatory 71 % 20637498 2024-04-30
Decreased blood protein P circulatory 71 % 20637498 2024-04-30
Decreased blood antithrombin III circulatory 71 % 20637498 2024-04-30
Cerebral atrophy nervous 71 % 20637498 2024-04-30
Erythroderma integumentary 57 % 20637498 2024-04-30
Cataract nervous 43 % 20637498 2024-04-30
Feeding difficulties digestive 43 % 20637498 2024-04-30
Dystonia nervous 43 % 20637498 2024-04-30
Cardiac structural defects circulatory 14 % 20637498 2024-04-30



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