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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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 % | 33644825 | 2024-05-09 | |
| Anemia | circulatory | 100 % | 33644825 | 2024-05-09 | |
| Seizures | nervous | 100 % | 33644825 | 2024-05-09 | |
| Hypotonia | nervous | 100 % | 33644825 | 2024-05-09 | |
| Microcephaly | nervous | 100 % | 33644825 | 2024-05-09 | |
| Iron deficiency | circulatory | 100 % | 33644825 | 2024-05-09 | |
| Speech delay | nervous | 100 % | 33644825 | 2024-05-09 | |
| non-walking | multi | 67 % | 33644825 | 2024-05-09 | |
| Hearing impairment | nervous | 67 % | 33644825 | 2024-05-09 | |
| Hypermobile joints | skeletal | 67 % | 33644825 | 2024-05-09 | |
| Recurrent infections | lymphatic | 67 % | 33644825 | 2024-05-09 | |
| Corpus callosum thining | nervous | 67 % | 33644825 | 2024-05-09 | |
| Developmental delay | nervous | 67 % | 33644825 | 2024-05-09 | |
| Psychomotor retardation | nervous | 33 % | 33644825 | 2024-05-09 | |
| Hypsarrhythmia | nervous | 33 % | 33644825 | 2024-05-09 | |
| Inverted nipples | integumentary | 33 % | 33644825 | 2024-05-09 | |
| High arched palate | skeletal | 33 % | 33644825 | 2024-05-09 | |
| Ventricular enlargement brain | nervous | 33 % | 33644825 | 2024-05-09 | |
| Cerebellar atrophy | nervous | 33 % | 33644825 | 2024-05-09 | |
| Low set ears | integumentary | 33 % | 33644825 | 2024-05-09 | |
| Broad nasal bridge | skeletal | 33 % | 33644825 | 2024-05-09 | |
| Diarrhea | digestive | 33 % | 33644825 | 2024-05-09 |
List of references:
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.
Gabriela Magali Papazoglu, Marisa Cubilla, Marcela Pereyra, Raquel Dodelson de Kremer, Belén Pérez, Luisa Sturiale, Carla Gabriela Asteggiano,
Glycoconjugate journal - Apr 2021