Pettigrew syndrome

Contact us
 
Return to database




Prevalence (%) of clinical parameters based on data from 1 references describing 39 individuals







Add new symptom/sign to this disease

Select symptom from list or write it in the box
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