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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 |
| Hypotonia | nervous | 100 % | 30676690 | 2024-06-14 | |
| Developmental delay | multi | 100 % | 30676690 | 2024-06-14 | |
| Visual immaturity | nervous | 50 % | 30676690 | 2024-06-14 | |
| Hearing loss | nervous | 50 % | 30676690 | 2024-06-14 | |
| Large ears | integumentary | 50 % | 30676690 | 2024-06-14 | |
| Myopia | nervous | 50 % | 30676690 | 2024-06-14 | |
| Seizures | nervous | 50 % | 30676690 | 2024-06-14 | |
| Microcephaly | nervous | 50 % | 30676690 | 2024-06-14 | |
| Hypertonia | nervous | 50 % | 30676690 | 2024-06-14 | |
| Instability of body temperature | multi | 50 % | 30676690 | 2024-06-14 | |
| Strabismus | nervous | 50 % | 30676690 | 2024-06-14 | |
| Mental retardation | nervous | 50 % | 30676690 | 2024-06-14 | |
| Hypsarrhythmia | nervous | 50 % | 30676690 | 2024-06-14 | |
| Inverted nipples | integumentary | 50 % | 30676690 | 2024-06-14 | |
| Vomiting | digestive | 50 % | 30676690 | 2024-06-14 | |
| Feeding difficulties | digestive | 50 % | 30676690 | 2024-06-14 | |
| Visual impairment | nervous | 50 % | 30676690 | 2024-06-14 | |
| Muscle weakness | skeletal | 50 % | 30676690 | 2024-06-14 |
List of references:
ALG11-CDG syndrome: Expanding the phenotype.
Maria K Haanpää, Bobby G Ng, Natalie M Gallant, Kathryn E Singh, Candida Brown, Virginia Kimonis, Hudson H Freeze, Eric A Muller,
American journal of medical genetics. Part A - Mar 2019