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
Elevated creatine kinase (CK) levels circulatory 33 % 23109149 2024-05-14
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



List of references:


DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Rita Barone, Chiara Aiello, Valérie Race, Eva Morava, Francois Foulquier, Moniek Riemersma, Chiara Passarelli, Daniela Concolino, Massimo Carella, Filippo Santorelli, Wendy Vleugels, Eugenio Mercuri, Domenico Garozzo, Luisa Sturiale, Sonia Messina, Jaak Jaeken, Agata Fiumara, Ron A Wevers, Enrico Bertini, Gert Matthijs, Dirk J Lefeber,



Annals of neurology - Oct 2012