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Congenital Disorder of Glycosylation, Type Id
CDG1D

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Prevalence (%) of clinical parameters based on data from 1 references describing 36 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
Hypotonia nervous 100 % 33583022 2024-05-01
Facial dysmorphism multi 97 % 33583022 2024-05-01
Developmental delay nervous 97 % 33583022 2024-05-01
Mental retardation nervous 97 % 33583022 2024-05-01
Recurrent infections lymphatic 88 % 33583022 2024-05-01
Cerebral atrophy nervous 88 % 33583022 2024-05-01
Cerebellar atrophy nervous 88 % 33583022 2024-05-01
Microcephaly nervous 79 % 33583022 2024-05-01
Renal agenesis urinary 73 % 33583022 2024-05-01
Seizures nervous 72 % 33583022 2024-05-01
Osteoporosis skeletal 69 % 33583022 2024-05-01
Visual impairment nervous 69 % 33583022 2024-05-01
Sleep apnea multi 63 % 33583022 2024-05-01
Coagulopathy circulatory 59 % 33583022 2024-05-01
Hepatomegaly digestive 52 % 33583022 2024-05-01
Hypertonia nervous 52 % 33583022 2024-05-01
Hearing impairment nervous 50 % 33583022 2024-05-01
Hypertelorism multi 30 % 33583022 2024-05-01
Downward sloping palpebral apertures multi 30 % 33583022 2024-05-01
Strabismus nervous 30 % 33583022 2024-05-01
Smooth philtrum integumentary 20 % 33583022 2024-05-01
Thin lips integumentary 20 % 33583022 2024-05-01
Myopia nervous 20 % 33583022 2024-05-01
Neural tube defect nervous 20 % 33583022 2024-05-01
Optic nerve atrophy nervous 20 % 33583022 2024-05-01
Broad nasal bridge skeletal 20 % 33583022 2024-05-01
Aortic root dilatation circulatory 17 % 33583022 2024-05-01



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