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Prevalence (%) of clinical parameters based on data from 1 references describing 8 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 |
| Seizures | nervous | 100 % | 23111317 | 2024-05-02 | |
| Facial dysmorphism | multi | 88 % | 23111317 | 2024-05-02 | |
| Hearing impairment | skeletal | 88 % | 23111317 | 2024-05-02 | |
| Hypotonia | nervous | 88 % | 23111317 | 2024-05-02 | |
| Psychomotor retardation | nervous | 88 % | 23111317 | 2024-05-02 | |
| Feeding difficulties | digestive | 75 % | 23111317 | 2024-05-02 | |
| Visual impairment | nervous | 75 % | 23111317 | 2024-05-02 | |
| Inverted nipples | integumentary | 50 % | 23111317 | 2024-05-02 | |
| Coagulopathy | circulatory | 50 % | 23111317 | 2024-05-02 | |
| Microcephaly | nervous | 50 % | 23111317 | 2024-05-02 | |
| Short stature | endocrine | 38 % | 23111317 | 2024-05-02 | |
| Cerebral atrophy | nervous | 38 % | 23111317 | 2024-05-02 | |
| Hepatomegaly | digestive | 38 % | 23111317 | 2024-05-02 | |
| Ataxia | nervous | 25 % | 23111317 | 2024-05-02 |
List of references:
RFT1-CDG in adult siblings with novel mutations.
Nina Ondruskova, Katerina Vesela, Hana Hansikova, Martin Magner, Jiri Zeman, Tomas Honzik,
Molecular genetics and metabolism - Dec 2012