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Prevalence (%) of clinical parameters based on data from 1 references describing 39 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 |
| Mental retardation | nervous | 90 % | 23756445 | 2015-06-05 | |
| Developmental delay | nervous | 67 % | 23756445 | 2015-06-05 | |
| Hypotonia | nervous | 59 % | 23756445 | 2015-06-05 | |
| Aggressive outbursts | nervous | 33 % | 23756445 | 2015-06-05 | |
| Self mutilation | nervous | 21 % | 23756445 | 2015-06-05 | |
| Obsessive behavioral routines | nervous | 18 % | 23756445 | 2015-06-05 | |
| Basal ganglia calcifications | nervous | 15 % | 23756445 | 2015-06-05 | |
| Hydrocephalus | nervous | 15 % | 23756445 | 2015-06-05 | |
| Microcephaly | nervous | 13 % | 23756445 | 2015-06-05 | |
| Large mouth | skeletal | 10 % | 23756445 | 2015-06-05 | |
| Dyskinesias | nervous | 10 % | 23756445 | 2015-06-05 | |
| Spasticity | nervous | 8 % | 23756445 | 2015-06-05 | |
| Autism | nervous | 5 % | 23756445 | 2015-06-05 | |
| Macrocephaly | nervous | 5 % | 23756445 | 2015-06-05 |
List of references:
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, Marc Delepine, Diana Zelenika, Mark Lathrop, Nicolas Lévy, David H Ledbetter, William B Dobyns, Laurent Villard,
European journal of human genetics : EJHG - Mar 2014