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Prevalence (%) of clinical parameters based on data from 1 references describing 10 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 % | 23430515 | 2024-04-30 | |
| Psychomotor retardation | nervous | 100 % | 23430515 | 2024-04-30 | |
| Seizures | nervous | 80 % | 23430515 | 2024-04-30 | |
| Visual impairment | nervous | 80 % | 23430515 | 2024-04-30 | |
| Cerebral atrophy | nervous | 60 % | 23430515 | 2024-04-30 | |
| Strabismus | nervous | 60 % | 23430515 | 2024-04-30 | |
| Feeding difficulties | digestive | 50 % | 23430515 | 2024-04-30 | |
| Tremor | nervous | 40 % | 23430515 | 2024-04-30 | |
| Hypertrophic cardiomyopathy | circulatory | 30 % | 23430515 | 2024-04-30 | |
| Diarrhea | digestive | 30 % | 23430515 | 2024-04-30 | |
| Recurrent infections | lymphatic | 30 % | 23430515 | 2024-04-30 | |
| Protein-losing enteropathy | digestive | 30 % | 23430515 | 2024-04-30 | |
| Apnea | respiratory | 20 % | 23430515 | 2024-04-30 | |
| Ventricular enlargement brain | nervous | 20 % | 23430515 | 2024-04-30 | |
| Retarded myelination | nervous | 20 % | 23430515 | 2024-04-30 | |
| Facial dysmorphism | integumentary | 20 % | 23430515 | 2024-04-30 | |
| Vomiting | digestive | 20 % | 23430515 | 2024-04-30 | |
| Papilledema | nervous | 10 % | 23430515 | 2024-04-30 | |
| Macrocephaly | nervous | 10 % | 23430515 | 2024-04-30 | |
| Microcephaly | nervous | 10 % | 23430515 | 2024-04-30 | |
| Septum pellucidum defect | nervous | 10 % | 23430515 | 2024-04-30 | |
| Corpus callosum agenesis | nervous | 10 % | 23430515 | 2024-04-30 | |
| Brainstem atrophy | nervous | 10 % | 23430515 | 2024-04-30 | |
| Hypertrichosis | integumentary | 10 % | 23430515 | 2024-04-30 | |
| Cryptorchidism | reproductive | 10 % | 23430515 | 2024-04-30 | |
| Hepatomegaly | digestive | 10 % | 23430515 | 2024-04-30 | |
| Edema | circulatory | 10 % | 23430515 | 2024-04-30 | |
| Anorexia | multi | 10 % | 23430515 | 2024-04-30 | |
| Abdominal distention | digestive | 10 % | 23430515 | 2024-04-30 | |
| Cerebellar atrophy | nervous | 10 % | 23430515 | 2024-04-30 |
List of references:
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.
M Dercksen, A C Crutchley, E M Honey, M M Lippert, G Matthijs, L J Mienie, H C Schuman, B C Vorster, J Jaeken,
JIMD reports - 2013