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Prevalence (%) of clinical parameters based on data from 1 references describing 23 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 |
| Psychomotor retardation | nervous | 86 % | 18500572 | 2024-05-08 | |
| Strabismus | nervous | 64 % | 18500572 | 2024-05-08 | |
| Hypotonia | nervous | 60 % | 18500572 | 2024-05-08 | |
| Bleeding | circulatory | 39 % | 18500572 | 2024-05-08 | |
| Decreased blood protein P | nervous | 39 % | 18500572 | 2024-05-08 | |
| Decreased blood antithrombin III | circulatory | 39 % | 18500572 | 2024-05-08 | |
| Decreased blood protein S | circulatory | 39 % | 18500572 | 2024-05-08 | |
| Thrombotic episodes | circulatory | 35 % | 18500572 | 2024-05-08 | |
| Coloboma | nervous | 35 % | 18500572 | 2024-05-08 | |
| Hypoalbuminemia | circulatory | 35 % | 18500572 | 2024-05-08 | |
| Liver failure | digestive | 35 % | 18500572 | 2024-05-08 | |
| Vomiting | digestive | 30 % | 18500572 | 2024-05-08 | |
| Diarrhea | digestive | 30 % | 18500572 | 2024-05-08 | |
| Vermis hypoplasia | nervous | 30 % | 18500572 | 2024-05-08 | |
| Cerebellar atrophy | nervous | 30 % | 18500572 | 2024-05-08 | |
| Seizures | nervous | 30 % | 18500572 | 2024-05-08 | |
| Low set ears | multi | 26 % | 18500572 | 2024-05-08 | |
| Large ears | multi | 26 % | 18500572 | 2024-05-08 | |
| Hypertelorism | multi | 26 % | 18500572 | 2024-05-08 | |
| Clinodactyly | skeletal | 26 % | 18500572 | 2024-05-08 | |
| Microcephaly | nervous | 26 % | 18500572 | 2024-05-08 | |
| Optic atrophy | nervous | 21 % | 18500572 | 2024-05-08 | |
| Blindness | nervous | 17 % | 18500572 | 2024-05-08 | |
| Optic nerve atrophy | nervous | 17 % | 18500572 | 2024-05-08 | |
| Thrombocytopenia | circulatory | 17 % | 18500572 | 2024-05-08 | |
| Dystonia | nervous | 13 % | 18500572 | 2024-05-08 | |
| Inverted nipples | integumentary | 13 % | 18500572 | 2024-05-08 | |
| Ventricular septal defects | circulatory | 13 % | 18500572 | 2024-05-08 | |
| Atrial septum defect | circulatory | 13 % | 18500572 | 2024-05-08 | |
| Respiratory failure | respiratory | 13 % | 18500572 | 2024-05-08 | |
| Recurrent infections | lymphatic | 9 % | 18500572 | 2024-05-08 | |
| Cerebral hemorrhage | circulatory | 9 % | 18500572 | 2024-05-08 | |
| Hearing loss | nervous | 9 % | 18500572 | 2024-05-08 | |
| Cataract | nervous | 9 % | 18500572 | 2024-05-08 | |
| Increased blood CK | circulatory | 9 % | 18500572 | 2024-06-14 | |
| Retarded myelination | nervous | 9 % | 18500572 | 2024-05-08 | |
| Neuropathy | nervous | 4 % | 18500572 | 2024-05-08 | |
| Cardiomyopathy | circulatory | 4 % | 18500572 | 2024-05-08 | |
| Club foot | skeletal | 4 % | 18500572 | 2024-05-08 | |
| Arachnodactyly | skeletal | 4 % | 18500572 | 2024-05-08 | |
| Kidney cysts | urinary | 4 % | 18500572 | 2024-05-08 | |
| Retinitis pigmentosa | nervous | 4 % | 18500572 | 2024-05-08 | |
| Hyperechogenic kidney | urinary | 4 % | 18500572 | 2024-05-08 | |
| Glaucoma | nervous | 4 % | 18500572 | 2024-05-08 | |
| Hydrocephalus | nervous | 4 % | 18500572 | 2024-05-08 | |
| Nail dystrophy | integumentary | 4 % | 18500572 | 2024-05-08 |
List of references:
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.
E Morava, H Wosik, J Kárteszi, M Guillard, M Adamowicz, J Sykut-Cegielska, K Hadzsiev, R A Wevers, D J Lefeber,
Journal of inherited metabolic disease - Jun 2008