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Prevalence (%) of clinical parameters based on data from 1 references describing 7 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 |
| Hypotonia | nervous | 100 % | 23228021 | 2024-05-10 | |
| Developmental delay | nervous | 100 % | 23228021 | 2024-05-10 | |
| Mental retardation | nervous | 86 % | 23228021 | 2024-05-10 | |
| Microcephaly | nervous | 71 % | 23228021 | 2024-05-10 | |
| Short stature | endocrine | 57 % | 23228021 | 2024-05-10 | |
| Visual impairment | nervous | 28 % | 23228021 | 2024-05-10 | |
| Cerebellar atrophy | nervous | 28 % | 23228021 | 2024-05-10 | |
| Hearing impairment | nervous | 28 % | 23228021 | 2024-05-10 | |
| Cerebral atrophy | nervous | 14 % | 23228021 | 2024-05-10 | |
| Neurogenic bladder | urinary | 14 % | 23228021 | 2024-05-10 | |
| Contracture | nervous | 14 % | 23228021 | 2024-05-10 | |
| Skin wrinkles | integumentary | 14 % | 23228021 | 2024-05-10 | |
| Seizures | nervous | 14 % | 23228021 | 2024-05-10 |
List of references:
COG5-CDG: expanding the clinical spectrum.
Daisy Rymen, Liesbeth Keldermans, Valérie Race, Luc Régal, Nicolas Deconinck, Carlo Dionisi-Vici, Cheuk-Wing Fung, Luisa Sturiale, Claire Rosnoblet, François Foulquier, Gert Matthijs, Jaak Jaeken,
Orphanet journal of rare diseases - Dec 2012