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Prevalence (%) of clinical parameters based on data from 1 references describing 1 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 |
| Cerebral palsy | nervous | 100 % | 24784932 | 2024-05-08 | |
| Corpus callosum thining | nervous | 100 % | 24784932 | 2024-05-08 | |
| Cerebral atrophy | nervous | 100 % | 24784932 | 2024-05-08 | |
| Seizures | nervous | 100 % | 24784932 | 2024-05-08 | |
| Hypocupremia | circulatory | 100 % | 24784932 | 2024-05-08 | |
| Hypoceruloplasminemia | circulatory | 100 % | 24784932 | 2024-05-08 | |
| Pituitary gland atrophy | nervous | 100 % | 24784932 | 2024-05-08 | |
| Microcephaly | nervous | 100 % | 24784932 | 2024-05-08 | |
| Developmental delay | nervous | 100 % | 24784932 | 2024-05-08 |
List of references:
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.
H Kodera, N Ando, I Yuasa, Y Wada, Y Tsurusaki, M Nakashima, N Miyake, S Saitoh, N Matsumoto, H Saitsu,
Clinical genetics - May 2015