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Prevalence (%) of clinical parameters based on data from 1 references describing 17 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 |
| Developmental delay | multi | 100 % | 35839600 | 2024-04-29 | |
| Facial dysmorphism | multi | 93 % | 35839600 | 2024-04-29 | |
| Hypotonia | nervous | 92 % | 35839600 | 2024-04-29 | |
| Seizures | nervous | 92 % | 35839600 | 2024-04-29 | |
| Microcephaly | nervous | 75 % | 35839600 | 2024-04-29 | |
| Hepatomegaly | digestive | 69 % | 35839600 | 2024-04-29 | |
| Inverted nipples | integumentary | 69 % | 35839600 | 2024-04-29 | |
| Skeletal deformities | skeletal | 64 % | 35839600 | 2024-04-29 | |
| Visual impairment | nervous | 60 % | 35839600 | 2024-04-29 | |
| Cardiac structural defects | circulatory | 56 % | 35839600 | 2024-04-29 | |
| Kidney cysts | urinary | 46 % | 35839600 | 2024-04-29 | |
| Hypomyelination | nervous | 23 % | 35839600 | 2024-04-29 | |
| Cerebral atrophy | nervous | 15 % | 35839600 | 2024-04-29 | |
| Lung dysplasia | respiratory | 15 % | 35839600 | 2024-04-29 | |
| Cerebellar atrophy | nervous | 15 % | 35839600 | 2024-04-29 | |
| Nystagmus | nervous | 8 % | 35839600 | 2024-04-29 | |
| Exotropia | nervous | 8 % | 35839600 | 2024-04-29 | |
| Asthma | respiratory | 8 % | 35839600 | 2024-04-29 | |
| Atrial septum defect | circulatory | 5 % | 35839600 | 2024-04-29 |
List of references:
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.
Nastassja Himmelreich, Bianca Dimitrov, Matthias Zielonka, Andreas Hüllen, Georg Friedrich Hoffmann, Hendrik Juenger, Herbert Müller, Imke Lorenz, Birgit Busse, Christoph Marschall, Gregor Schlüter, Christian Thiel,
Molecular genetics and metabolism - Aug 2022