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Prevalence (%) of clinical parameters based on data from 1 references describing 5 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 % | 28007989 | 2024-05-01 | |
| Anemia | circulatory | 100 % | 28007989 | 2024-05-01 | |
| Anisopoikilocytosis | circulatory | 100 % | 28007989 | 2024-05-01 | |
| Psychomotor regression | nervous | 80 % | 28007989 | 2024-05-01 | |
| Feeding difficulties | digestive | 80 % | 28007989 | 2024-05-01 | |
| Developmental delay | nervous | 60 % | 28007989 | 2024-05-01 | |
| Cerebellar atrophy | nervous | 60 % | 28007989 | 2024-05-01 | |
| Cerebral atrophy | nervous | 60 % | 28007989 | 2024-05-01 | |
| Dysphagia | nervous | 60 % | 28007989 | 2024-05-01 | |
| Gastrostomy | digestive | 60 % | 28007989 | 2024-05-01 |
List of references:
CAD mutations and uridine-responsive epileptic encephalopathy.
Johannes Koch, Johannes A Mayr, Bader Alhaddad, Christian Rauscher, Jörgen Bierau, Reka Kovacs-Nagy, Karlien L M Coene, Ingrid Bader, Monika Holzhacker, Holger Prokisch, Hanka Venselaar, Ron A Wevers, Felix Distelmaier, Tilman Polster, Steffen Leiz, Cornelia Betzler, Tim M Strom, Wolfgang Sperl, Thomas Meitinger, Saskia B Wortmann, Tobias B Haack,
Brain : a journal of neurology - Feb 2017