Intellectual developmental disorder with dysmorphic facies and ptosis |
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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 |
| Developmental delay | nervous | 100 % | 27939640 | 2022-01-09 | |
| Speech delay | nervous | 100 % | 27939640 | 2022-01-09 | |
| Broad nasal bridge | skeletal | 90 % | 27939640 | 2022-01-09 | |
| Hypertelorism | skeletal | 90 % | 27939640 | 2022-01-09 | |
| Hypotonia | nervous | 87 % | 27939640 | 2022-01-09 | |
| Ptosis | skeletal | 60 % | 27939640 | 2022-01-09 | |
| Hypermobile joints | skeletal | 60 % | 27939640 | 2022-01-09 | |
| Spinal fusion | skeletal | 57 % | 27939640 | 2022-01-09 | |
| Seizures | nervous | 50 % | 27939640 | 2022-01-09 | |
| Blepharophimosis | integumentary | 50 % | 27939640 | 2022-01-09 | |
| Feeding difficulties | nervous | 44 % | 27939640 | 2022-01-09 | |
| Downward sloping palpebral apertures | skeletal | 40 % | 27939640 | 2022-01-09 | |
| Hypomyelination | nervous | 29 % | 27939640 | 2022-01-09 |
List of references:
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Kezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, Courtney Kiss, Anna Lehman, Jill A Rosenfeld, Constance T R Stumpel, Alexander P A Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert F Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, Maria J Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, , , Megan T Cho, Thomas P Potjer, Gijs W E Santen, Michael J Parker, Natalie Canham, Margaret McKinnon, Lorraine Potocki, Jennifer J MacKenzie, Elizabeth R Roeder, Philippe M Campeau, Xiang-Jiao Yang,
American journal of human genetics - Jan 2017