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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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 |
| Liver and biliary tract abnormalities | digestive | 100 % | 26260076 | 2024-05-06 | |
| Microcephaly | nervous | 83 % | 26260076 | 2024-05-06 | |
| Cerebral atrophy | nervous | 83 % | 26260076 | 2024-05-06 | |
| Cerebellar atrophy | nervous | 83 % | 26260076 | 2024-05-06 | |
| Recurrent infections | lymphatic | 83 % | 26260076 | 2024-05-06 | |
| Hypohidrosis | integumentary | 83 % | 26260076 | 2024-05-06 | |
| Hydrocephalus | nervous | 83 % | 26260076 | 2024-05-06 | |
| Thrombocytopenia | circulatory | 67 % | 26260076 | 2024-05-06 | |
| Short stature | endocrine | 67 % | 26260076 | 2024-05-06 | |
| Facial dysmorphism | multi | 67 % | 26260076 | 2024-05-06 | |
| Immune deficiency | lymphatic | 50 % | 26260076 | 2024-05-06 | |
| Coagulopathy | circulatory | 50 % | 26260076 | 2024-05-06 | |
| Hyperkeratinosis | integumentary | 50 % | 26260076 | 2024-05-06 | |
| Diarrhea | digestive | 50 % | 26260076 | 2024-05-06 | |
| Atrial septum defect | circulatory | 50 % | 26260076 | 2024-05-06 | |
| Polydactyly | multi | 33 % | 26260076 | 2024-05-06 | |
| Hearing loss | nervous | 33 % | 26260076 | 2024-05-06 | |
| Leukocytosis | circulatory | 33 % | 26260076 | 2024-05-06 | |
| Pancytopenia | circulatory | 33 % | 26260076 | 2024-05-06 | |
| Persistent ductus arteriosus | circulatory | 33 % | 26260076 | 2024-05-06 | |
| Seizures | nervous | 33 % | 26260076 | 2024-05-06 | |
| Hyperglycemia | endocrine | 17 % | 26260076 | 2024-05-06 | |
| Anemia | circulatory | 17 % | 26260076 | 2024-05-06 | |
| Renal agenesis | urinary | 17 % | 26260076 | 2024-05-06 | |
| Adrenal gland hypoplasia | endocrine | 17 % | 26260076 | 2024-05-06 | |
| Thymus hyperplasia | lymphatic | 17 % | 26260076 | 2024-05-06 | |
| Hyperechogenic kidney | urinary | 17 % | 26260076 | 2024-05-06 | |
| Hypotonia | nervous | 17 % | 26260076 | 2024-05-06 | |
| Optic nerve atrophy | nervous | 17 % | 26260076 | 2024-05-06 | |
| Scoliosis | skeletal | 17 % | 26260076 | 2024-05-06 | |
| Arthrogryposis | multi | 17 % | 26260076 | 2024-05-06 | |
| Hip dysplasia | multi | 17 % | 26260076 | 2024-05-06 | |
| Enamel hypoplasia | integumentary | 17 % | 26260076 | 2024-05-06 | |
| Cortical atrophy | nervous | 17 % | 26260076 | 2024-05-06 | |
| Corpus callosum agenesis | nervous | 17 % | 26260076 | 2024-05-06 |
List of references:
Key features and clinical variability of COG6-CDG.
Daisy Rymen, Julia Winter, Peter M Van Hasselt, Jaak Jaeken, Cigdem Kasapkara, Gulden Gokçay, Hanneke Haijes, Philippe Goyens, Aysegul Tokatli, Christian Thiel, Oliver Bartsch, Jochen Hecht, Peter Krawitz, Hubertus C M T Prinsen, Eva Mildenberger, Gert Matthijs, Uwe Kornak,
Molecular genetics and metabolism - Nov 2015