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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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 % | 28424003 | 2024-05-06 | |
| Mental retardation | nervous | 100 % | 28424003 | 2024-05-06 | |
| Developmental delay | multi | 100 % | 28424003 | 2024-05-06 | |
| Microcephaly | nervous | 100 % | 28424003 | 2024-05-06 | |
| Abnormal visual development | nervous | 83 % | 28424003 | 2024-05-06 | |
| Visual impairment | nervous | 83 % | 28424003 | 2024-05-06 | |
| Seizures | nervous | 83 % | 28424003 | 2024-05-06 | |
| Cerebellar atrophy | nervous | 83 % | 28424003 | 2024-05-06 | |
| Self injurious behavior | multi | 67 % | 28424003 | 2024-05-06 | |
| Feeding difficulties | digestive | 67 % | 28424003 | 2024-05-06 | |
| Optic atrophy | nervous | 50 % | 28424003 | 2024-05-06 | |
| Sleep disturbances | multi | 33 % | 28424003 | 2024-05-06 | |
| Hypothermia | nervous | 17 % | 28424003 | 2024-05-06 |
List of references:
Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.
Arunabha Ghosh, Jill Urquhart, Sarah Daly, Anne Ferguson, Diana Scotcher, Andrew A M Morris, Jill Clayton-Smith,
Journal of child neurology - May 2017