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Prevalence (%) of clinical parameters based on data from 1 references describing 36 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 % | 33583022 | 2024-05-01 | |
| Facial dysmorphism | multi | 97 % | 33583022 | 2024-05-01 | |
| Developmental delay | nervous | 97 % | 33583022 | 2024-05-01 | |
| Mental retardation | nervous | 97 % | 33583022 | 2024-05-01 | |
| Recurrent infections | lymphatic | 88 % | 33583022 | 2024-05-01 | |
| Cerebral atrophy | nervous | 88 % | 33583022 | 2024-05-01 | |
| Cerebellar atrophy | nervous | 88 % | 33583022 | 2024-05-01 | |
| Microcephaly | nervous | 79 % | 33583022 | 2024-05-01 | |
| Renal agenesis | urinary | 73 % | 33583022 | 2024-05-01 | |
| Seizures | nervous | 72 % | 33583022 | 2024-05-01 | |
| Osteoporosis | skeletal | 69 % | 33583022 | 2024-05-01 | |
| Visual impairment | nervous | 69 % | 33583022 | 2024-05-01 | |
| Sleep apnea | multi | 63 % | 33583022 | 2024-05-01 | |
| Coagulopathy | circulatory | 59 % | 33583022 | 2024-05-01 | |
| Hepatomegaly | digestive | 52 % | 33583022 | 2024-05-01 | |
| Hypertonia | nervous | 52 % | 33583022 | 2024-05-01 | |
| Hearing impairment | nervous | 50 % | 33583022 | 2024-05-01 | |
| Hypertelorism | multi | 30 % | 33583022 | 2024-05-01 | |
| Downward sloping palpebral apertures | multi | 30 % | 33583022 | 2024-05-01 | |
| Strabismus | nervous | 30 % | 33583022 | 2024-05-01 | |
| Smooth philtrum | integumentary | 20 % | 33583022 | 2024-05-01 | |
| Thin lips | integumentary | 20 % | 33583022 | 2024-05-01 | |
| Myopia | nervous | 20 % | 33583022 | 2024-05-01 | |
| Neural tube defect | nervous | 20 % | 33583022 | 2024-05-01 | |
| Optic nerve atrophy | nervous | 20 % | 33583022 | 2024-05-01 | |
| Broad nasal bridge | skeletal | 20 % | 33583022 | 2024-05-01 | |
| Aortic root dilatation | circulatory | 17 % | 33583022 | 2024-05-01 |
List of references:
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Hind Alsharhan, Bobby G Ng, Earnest James Paul Daniel, Jennifer Friedman, Eniko K Pivnick, Amal Al-Hashem, Eissa Ali Faqeih, Pengfei Liu, Nicole M Engelhardt, Kierstin N Keller, Jie Chen, Pamela A Mazzeo, , Jill A Rosenfeld, Michael J Bamshad, Deborah A Nickerson, Kimiyo M Raymond, Hudson H Freeze, Miao He, Andrew C Edmondson, Christina Lam,
Journal of inherited metabolic disease - Jul 2021