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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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 |
| Instability of body temperature | multi | 100 % | 16151902 | 2024-05-13 | |
| Hepatomegaly | digestive | 100 % | 16151902 | 2024-05-13 | |
| Facial dysmorphism | multi | 100 % | 16151902 | 2024-05-13 | |
| Hypotonia | nervous | 50 % | 16151902 | 2024-05-13 | |
| Hypomotility | digestive | 50 % | 16151902 | 2024-05-13 | |
| Low set ears | multi | 50 % | 16151902 | 2024-05-13 | |
| Posteriorly rotated ears | multi | 50 % | 16151902 | 2024-05-13 | |
| Micrognathia | skeletal | 50 % | 16151902 | 2024-05-13 | |
| Short neck | multi | 50 % | 16151902 | 2024-05-13 | |
| Hyperlaxity | integumentary | 50 % | 16151902 | 2024-05-13 | |
| Finger deformity | skeletal | 50 % | 16151902 | 2024-05-13 | |
| Simian creases | multi | 50 % | 16151902 | 2024-05-13 | |
| Large hallux | skeletal | 50 % | 16151902 | 2024-05-13 | |
| Short limbs | multi | 50 % | 16151902 | 2024-05-13 | |
| Jaundice | digestive | 50 % | 16151902 | 2024-05-13 | |
| Aplasia of the humeral epiphysis | skeletal | 50 % | 16151902 | 2024-05-13 | |
| Aplasia of the tibial epiphyses | skeletal | 50 % | 16151902 | 2024-05-13 | |
| Arachnoidal cyst | nervous | 50 % | 16151902 | 2024-05-13 | |
| Recurring intestinal obstruction | digestive | 50 % | 16151902 | 2024-05-13 | |
| Ascites | digestive | 50 % | 16151902 | 2024-05-13 | |
| Cholestasis | digestive | 50 % | 16151902 | 2024-05-13 | |
| Seizures | nervous | 50 % | 16151902 | 2024-05-13 | |
| Ventricular septal defects | circulatory | 50 % | 16151902 | 2024-05-13 | |
| Increased excretion of free sialic acid | circulatory | 50 % | 16151902 | 2024-05-13 | |
| Low concentrations of total sialic acid in plasma | circulatory | 50 % | 16151902 | 2024-05-13 | |
| Aberrant profile of serum apolipoprotein C-III | circulatory | 50 % | 16151902 | 2024-05-13 |
List of references:
Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.
L J M Spaapen, J A Bakker, S B van der Meer, H J Sijstermans, R A Steet, R A Wevers, J Jaeken,
Journal of inherited metabolic disease - 2005