| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 112 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 |
| Developmental delay | nervous | 100 % | 22045651 | 2015-06-04 | |
| Tented upper lip | skeletal | 94 % | 22045651 | 2015-06-04 | |
| Everted lower lip | skeletal | 94 % | 22045651 | 2015-06-04 | |
| Large mouth | skeletal | 94 % | 22045651 | 2015-06-04 | |
| Beaked nose | skeletal | 94 % | 22045651 | 2015-06-04 | |
| Broad nasal bridge | skeletal | 94 % | 22045651 | 2015-06-04 | |
| Deep-set eyes | skeletal | 94 % | 22045651 | 2015-06-04 | |
| Smiling appearance | nervous | 91 % | 22045651 | 2015-06-04 | |
| Hypotonia | nervous | 81 % | 22045651 | 2015-06-04 | |
| Constipation | digestive | 75 % | 22045651 | 2015-06-04 | |
| Agitation | nervous | 68 % | 22045651 | 2015-06-04 | |
| Single palmar creases | integumentary | 65 % | 22045651 | 2015-06-04 | |
| Arm flapping | nervous | 62 % | 22045651 | 2015-06-04 | |
| Arachnodactyly | skeletal | 61 % | 22045651 | 2015-06-04 | |
| Ataxia | nervous | 60 % | 22045651 | 2015-06-04 | |
| Strabismus | nervous | 60 % | 22045651 | 2015-06-04 | |
| Anxiety | nervous | 57 % | 22045651 | 2015-06-04 | |
| Hand washing | nervous | 57 % | 22045651 | 2015-06-04 | |
| Pes planus | skeletal | 57 % | 22045651 | 2015-06-04 | |
| Hyperventilation | respiratory | 56 % | 22045651 | 2015-06-04 | |
| Myopia | nervous | 56 % | 22045651 | 2015-06-04 | |
| Laughing | nervous | 55 % | 22045651 | 2015-06-04 | |
| Apnea | respiratory | 54 % | 22045651 | 2015-06-04 | |
| Self mutilation | nervous | 52 % | 22045651 | 2015-06-04 | |
| Overriding toes | skeletal | 43 % | 22045651 | 2015-06-04 | |
| Corpus callosum thining | nervous | 40 % | 22045651 | 2015-06-04 | |
| Seizures | nervous | 39 % | 22045651 | 2015-06-04 | |
| Reflux | digestive | 33 % | 22045651 | 2015-06-04 | |
| Cyanosis | respiratory | 32 % | 22045651 | 2015-06-04 | |
| Ventricular enlargement brain | nervous | 31 % | 22045651 | 2015-06-04 | |
| Sleep disturbances | nervous | 27 % | 22045651 | 2015-06-04 | |
| Short stature | skeletal | 23 % | 22045651 | 2015-06-04 | |
| Scoliosis | skeletal | 23 % | 22045651 | 2015-06-04 | |
| Talipes equinovarus | skeletal | 20 % | 22045651 | 2015-06-04 | |
| Cryptorchidism | reproductive | 20 % | 22045651 | 2015-06-04 | |
| Cerebral atrophy | nervous | 19 % | 22045651 | 2015-06-04 | |
| Pes cavus | skeletal | 19 % | 22045651 | 2015-06-04 | |
| Leukodystrophy | nervous | 13 % | 22045651 | 2015-06-04 | |
| Thumb ankylosis | skeletal | 12 % | 22045651 | 2015-06-05 |
List of references:
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Sandra Whalen, Delphine Héron, Thierry Gaillon, Oana Moldovan, Massimiliano Rossi, Françoise Devillard, Fabienne Giuliano, Gabriela Soares, Michelle Mathieu-Dramard, Alexandra Afenjar, Perrine Charles, Cyril Mignot, Lydie Burglen, Lionel Van Maldergem, Juliette Piard, Salim Aftimos, Grazia Mancini, Patricia Dias, Nicole Philip, Alice Goldenberg, Martine Le Merrer, Marlène Rio, Dragana Josifova, Johanna Maria Van Hagen, Didier Lacombe, Patrick Edery, Sophie Dupuis-Girod, Audrey Putoux, Damien Sanlaville, Richard Fischer, Loïc Drévillon, Audrey Briand-Suleau, Corinne Metay, Michel Goossens, Jeanne Amiel, Aurelia Jacquette, Irina Giurgea,
Human mutation - Jan 2012