|
Prevalence (%) of clinical parameters based on data from 1 references describing 39 individuals
Add new symptom/sign to this disease
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
|