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Prevalence (%) of clinical parameters based on data from 1 references describing 3 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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 |
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