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Prevalence (%) of clinical parameters based on data from 1 references describing 11 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 |
| Mental retardation | nervous | 100 % | 18716235 | 2024-05-28 | |
| Facial dysmorphism | multi | 100 % | 18716235 | 2024-05-28 | |
| Lissencephaly | nervous | 73 % | 18716235 | 2024-05-28 | |
| Hip dysplasia | skeletal | 73 % | 18716235 | 2024-05-28 | |
| Inguinal hernia | digestive | 54 % | 18716235 | 2024-05-28 | |
| Myopia | nervous | 45 % | 18716235 | 2024-05-28 | |
| Seizures | nervous | 45 % | 18716235 | 2024-05-28 | |
| Microcephaly | nervous | 36 % | 18716235 | 2024-05-28 | |
| Vermis hypoplasia | nervous | 18 % | 18716235 | 2024-05-28 | |
| Bruch membrane rupture | nervous | 9 % | 18716235 | 2024-05-28 | |
| Corneal dystrophy | nervous | 9 % | 18716235 | 2024-05-28 |
List of references:
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
L Van Maldergem, M Yuksel-Apak, H Kayserili, E Seemanova, S Giurgea, L Basel-Vanagaite, E Leao-Teles, J Vigneron, M Foulon, M Greally, J Jaeken, S Mundlos, W B Dobyns,
Neurology - Nov 2008