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Congenital Disorder of Glycosylation, Type Iu
CDG1U

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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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
Respiratory failure respiratory 100 % 23109149 2024-05-14
Hypotonia nervous 100 % 23109149 2024-05-14
Vermis hypoplasia nervous 67 % 23109149 2024-05-14
Cerebellar atrophy nervous 67 % 23109149 2024-05-14
White matter atrophy nervous 67 % 23109149 2024-05-14
Decreased blood antithrombin III circulatory 33 % 23109149 2024-05-14
Increased blood CK circulatory 33 % 23109149 2024-06-14
Increased blood transaminase circulatory 33 % 23109149 2024-05-14
Optic atrophy nervous 33 % 23109149 2024-05-14
Neck weakness skeletal 33 % 23109149 2024-05-14
Contracture nervous 33 % 23109149 2024-05-14
Microcephaly nervous 33 % 23109149 2024-05-14
Developmental delay multi 33 % 23109149 2024-05-14
Recurrent infections lymphatic 33 % 23109149 2024-05-14
Hepatomegaly digestive 33 % 23109149 2024-05-14
Seizures nervous 33 % 23109149 2024-05-14
Gonadal dysgenesis reproductive 33 % 23109149 2024-05-14
Micrognathia skeletal 33 % 23109149 2024-05-14
High arched palate skeletal 33 % 23109149 2024-05-14
Thin lips integumentary 33 % 23109149 2024-05-14
Long philtrum integumentary 33 % 23109149 2024-05-14
Small nose integumentary 33 % 23109149 2024-05-14
Hypotelorism multi 33 % 23109149 2024-05-14
Arched eyebrows integumentary 33 % 23109149 2024-05-14
Low anterior hairline integumentary 33 % 23109149 2024-05-14
Trigonocephaly nervous 33 % 23109149 2024-05-14
Facial dysmorphism multi 33 % 23109149 2024-05-14
Polyhydramnios multi 33 % 23109149 2024-05-14



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