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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 |
| Seizures | nervous | 100 % | 25672921 | 2017-03-03 | |
| Developmental delay | nervous | 90 % | 25672921 | 2017-03-03 | |
| Aggressive outbursts | nervous | 80 % | 25672921 | 2017-03-03 | |
| Mental retardation | nervous | 70 % | 25672921 | 2017-03-03 | |
| Cerebral atrophy | nervous | 43 % | 25672921 | 2017-03-03 | |
| Cerebellar atrophy | nervous | 43 % | 25672921 | 2017-03-03 | |
| Autism | nervous | 40 % | 25672921 | 2017-03-03 | |
| Short stature | multi | 40 % | 25672921 | 2017-03-03 | |
| Ataxia | nervous | 40 % | 25672921 | 2017-03-03 | |
| Psychiatric symptom | nervous | 10 % | 25672921 | 2017-03-03 |
List of references:
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.
Rhys H Thomas, Lin Mei Zhang, Gemma L Carvill, John S Archer, Sinéad B Heavin, Simone A Mandelstam, Dana Craiu, Samuel F Berkovic, Deepak S Gill, Heather C Mefford, Ingrid E Scheffer, ,
Neurology - Mar 2015